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ERBB3 Gene

protein-coding   GIFtS: 76
GCID: GC12P056473

V-Erb-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog...

(Previous name: lethal congenital contracture syndrome 2)
(Previous symbol: LCCS2)
  See ERBB3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
V-Erb-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 31 2     c-erbB-32
LCCS21 2 5     c-erbB32
Proto-Oncogene-Like Protein C-ErbB-32 3     erbB3-S2
Tyrosine Kinase-Type Cell Surface Receptor HER32 3     p180-ErbB32
HER32 3     p45-sErbB32
EC 2.7.10.13 8     p85-sErbB32
Lethal Congenital Contracture Syndrome 21     Receptor Tyrosine-Protein Kinase ErbB-32
ErbB-32     EC 2.7.108
MDA-BF-12     

External Ids:    HGNC: 34311   Entrez Gene: 20652   Ensembl: ENSG000000653617   OMIM: 1901515   UniProtKB: P218603   

Export aliases for ERBB3 gene to outside databases

Previous GC identifers: GC12M056386 GC12M056841 GC12P056190 GC12P054760 GC12P053512


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ERBB3 Gene:
This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases.
This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can
bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form
heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to
the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or
overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast
tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One
isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity
of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly
characterized. (provided by RefSeq, Jul 2008)

GeneCards Summary for ERBB3 Gene:
ERBB3 (v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) is a protein-coding gene. Diseases associated with ERBB3 include gestational trophoblastic tumor, and lethal congenital contracture syndrome 2. GO annotations related to this gene include protein heterodimerization activity and protein homodimerization activity. An important paralog of this gene is SYK.

UniProtKB/Swiss-Prot: ERBB3_HUMAN, P21860
Function: Binds and is activated by neuregulins and NTAK

summary for ERBB3 Gene:
The epidermal growth factor receptor (EGFR) is a receptor tyrosine kinase of the ErbB family. Four members
of the ErbB family have been identified; EGFR (ErbB1, HER1), ErbB2 (HER2), ErbB3 (HER3) and ErbB4 (HER4).
EGFR signaling is initiated by ligand binding to the extracellular ligand binding domain. This initiates
receptor homo-/hetero-dimerization and autophosphorylation by the intracellular kinase domain, resulting in
receptor activation. Following activation, phosphorylation of cytoplasmic substrates occurs and a signaling
cascade is initiated that drives many cellular responses, including changes in gene expression, cytoskeletal
rearrangement, anti-apoptosis and increased cell proliferation.

Gene Wiki entry for ERBB3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the ERBB3 gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 4   AP-2alpha isoform 2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ERBB3 promoter sequence
   Search Chromatin IP Primers for ERBB3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ERBB3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13   Ensembl cytogenetic band:  12q13.2   HGNC cytogenetic band: 12q13

ERBB3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ERBB3 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P056473:  view genomic region     (about GC identifiers)

Start:
56,473,641 bp from pter      End:
56,497,291 bp from pter
Size:
23,651 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ERBB3_HUMAN, P21860 (See protein sequence)
Recommended Name: Receptor tyrosine-protein kinase erbB-3 precursor  
Size: 1342 amino acids; 148098 Da
Subunit: Monomer and homodimer. Heterodimer with each of the other ERBB receptors (Potential). Interacts with
CSPG5, PA2G4, GRB7 and MUC1
Developmental stage: Overexpressed in a subset of human mammary tumors
6 PDB 3D structures from and Proteopedia for ERBB3:
1M6B (3D)        2L9U (3D)        3KEX (3D)        3LMG (3D)        3P11 (3D)        4LEO (3D)    
Secondary accessions: A8K6L6 B4DIK7 B4DV32 E9PDT8 Q9BUD7
Alternative splicing: 5 isoforms:  P21860-1   P21860-2   P21860-3   P21860-4   P21860-5   

Explore the universe of human proteins at neXtProt for ERBB3: NX_P21860

Explore proteomics data for ERBB3 at MOPED

Post-translational modifications: 

  • Ligand-binding increases phosphorylation on tyrosine residues and promotes its association with the p85 subunit of
    phosphatidylinositol 3-kinase (By similarity). Subject to autophosphorylation1
  • Glycosylation2 at Asn126, Asn250, Asn353, Asn408, Asn414, Asn437, Asn469, Asn522, Asn566, Asn616
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ERBB3 (P21860) (see all 22)
     YGVTVWE  DTDCFAC  KETELRK  TCNGSGS 


    See ERBB3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001005915.1  NP_001973.2  

    ENSEMBL proteins: 
     ENSP00000448636   ENSP00000449138   ENSP00000267101   ENSP00000415753   ENSP00000448671  
     ENSP00000448483   ENSP00000447510   ENSP00000449713   ENSP00000408340   ENSP00000448946  
     ENSP00000449129   ENSP00000448729   ENSP00000399178  
    Reactome Protein details: P21860

    ERBB3 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for ERBB3 (ErbB3/Her3)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for ERBB3
    OriGene Protein Over-expression Lysate for ERBB3
    OriGene MassSpec for ERBB3
    OriGene Custom Protein Services for ERBB3
    GenScript Purified and Recombinant Proteins for ERBB3
    Novus Biologicals ERBB3 Proteins
    Novus Biologicals ERBB3 Lysates
    Sino Biological Recombinant Protein for ERBB3
    Sino Biological Cell Lysate for ERBB3
    ProSpec Recombinant Protein for ERBB3
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for ERBB3 

    ERBB3 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ERBB3
    R&D Systems Antibodies for ERBB3 (ErbB3/Her3)
    Cell Signaling Technology (CST) Antibodies for ERBB3  (HER3)
    OriGene Antibodies for ERBB3
    OriGene Custom Antibody Services for ERBB3
    Novus Biologicals ERBB3 Antibodies
    Abcam antibodies for ERBB3
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for ERBB3
    LSBio Antibodies in human, mouse, rat for ERBB3

    ERBB3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ERBB3
    R&D Systems ELISAs for ERBB3 (ErbB3/Her3)         (see all)
    GenScript Custom Assay Services for ERBB3
    Cell Signaling Technology (CST) Sandwich ELISA Kits for ERBB3 (HER3)
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for ERBB3 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)
    ErbB (epidermal growth factor) receptor family

    Selected InterPro protein domains (see all 9):
     IPR006212 Furin_repeat
     IPR011009 Kinase-like_dom
     IPR000719 Prot_kinase_dom
     IPR000494 EGF_rcpt_L
     IPR001245 Ser-Thr/Tyr_kinase_cat_dom

    Graphical View of Domain Structure for InterPro Entry P21860

    ProtoNet protein and cluster: P21860

    4 Blocks protein domains:
    IPB000494 Epidermal growth-factor receptor (EGFR)
    IPB006211 Furin-like cysteine rich region
    IPB006212 Furin-like repeat
    IPB008266 Tyrosine protein kinase


    UniProtKB/Swiss-Prot: ERBB3_HUMAN, P21860
    Domain: The cytoplasmic part of the receptor may interact with the SH2 or SH3 domains of many signal-transducing
    proteins
    Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily
    Similarity: Contains 1 protein kinase domain


    Find genes that share domains with ERBB3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ERBB3_HUMAN, P21860
    Function: Binds and is activated by neuregulins and NTAK
    Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate

         Genatlas biochemistry entry for ERBB3:
    avian erythroblastic leukemia,viral (v-erb-b) oncogene homolog 3,heregulin beta 1 receptor,signal transducer
    receptor,heterodimerizing with the ligand less recetpor ERBB2

         Enzyme Numbers (IUBMB): EC 2.7.10.11 2 EC 2.7.102

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004713NOT protein tyrosine kinase activity IDA7556068
    GO:0004714transmembrane receptor protein tyrosine kinase activity ----
    GO:0004716receptor signaling protein tyrosine kinase activity ----
    GO:0004888transmembrane signaling receptor activity ISS7514177
         
    Find genes that share ontologies with ERBB3           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for ERBB3:
     Decreased substrate adherent c  Decreased viability  Increased cell death HMECs cel  Synthetic lethal with c-Myc af 

         Selected MGI mutant phenotypes (inferred from 11 alleles(MGI details for Erbb3) (see all 17):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  immune system  integument 
     mortality/aging  muscle  nervous system  normal  pigmentation 

    Find genes that share phenotypes with ERBB3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ERBB3: Erbb3tm1.1Dwt Erbb3tm1Gne Erbb3tm1Cbm Erbb3tm2Cbm

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ERBB3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ERBB3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ERBB3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ERBB3

    miRNA
    Products:
        
    miRTarBase miRNAs that target ERBB3:
    hsa-mir-24-3p (MIRT030589), hsa-mir-125a-5p (MIRT005117), hsa-mir-125b-5p (MIRT002938), hsa-mir-22-3p (MIRT006210), hsa-mir-205-5p (MIRT003659)

    Block miRNA regulation of human, mouse, rat ERBB3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ERBB3 (see all 57):
    hsa-miR-106a hsa-miR-301a hsa-miR-500a hsa-miR-766 hsa-miR-519a hsa-miR-877* hsa-miR-93 hsa-miR-3613-3p
    SwitchGear 3'UTR luciferase reporter plasmidERBB3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ERBB3
    Predesigned siRNA for gene silencing in human, mouse, rat ERBB3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ERBB3

    Clone
    Products:
         
    OriGene clones in human, mouse for ERBB3 (see all 15)
    OriGene ORF clones in mouse, rat for ERBB3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ERBB3 (NM_001005915)
    Sino Biological Human cDNA Clone for ERBB3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ERBB3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERBB3
    Addgene plasmids for ERBB3 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ERBB3
    Browse ESI BIO Cell Lines and PureStem Progenitors for ERBB3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERBB3

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-11716) for ERBB3 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ERBB3_HUMAN, P21860: Isoform 1: Cell membrane; Single-pass type I membrane protein
    ERBB3_HUMAN, P21860: Isoform 2: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    cytoskeleton3
    nucleus2
    cytosol1
    endoplasmic reticulum1
    endosome1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA11389077
    GO:0005886plasma membrane TAS17701904
    GO:0005887integral component of plasma membrane TAS2687875
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----

    Find genes that share ontologies with ERBB3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ERBB3 About   (see all 39)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1ErbB signaling pathway
    ErbB signaling pathway0.52
    EGFR Inhibitor Pathway, Pharmacodynamics0.49
    ErbB signaling pathway0.52
    ErbB receptor signaling network0.00
    2Development EGFR signaling pathway
    Development ERBB family signaling0.57
    GRB7 events in ERBB2 signaling0.00
    3Signaling by FGFR
    Signaling by FGFR0.91
    Signaling by PDGF0.87
    Signaling by FGFR in disease0.91
    Signaling by EGFR0.83
    Downstream signaling of activated FGFR0.91
    Signaling by EGFR in Cancer0.82
    Downstream signal transduction0.90
    NGF signalling via TRKA from the plasma membrane0.71
    4PI-3K cascade
    PI3K/AKT activation0.93
    PI3K/AKT Signaling in Cancer0.88
    GAB1 signalosome0.93
    PI3K events in ERBB4 signaling0.88
    Constitutive PI3K/AKT Signaling in Cancer0.88
    Role of LAT2/NTAL/LAB on calcium mobilization0.80
    PIP3 activates AKT signaling0.88
    Signaling by SCF-KIT0.72
    5GPCR Pathway
    Ras Pathway0.73
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.73
    NFAT in Immune Response0.58
    GPCR Pathway0.62
    Estrogen Pathway0.55
    Pancreatic Adenocarcinoma0.59
    P2Y Receptor Signaling0.38


    Find genes that share SuperPaths with ERBB3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for ERBB3
        Akt Signaling Pathway

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ERBB3 (see all 35)
        Paxillin Interactions
    Molecular Mechanisms of Cancer
    Intracellular Calcium Signaling
    JNK Pathway
    Tec Kinases Signaling

    1 Cell Signaling Technology (CST) Pathway for ERBB3
        Tyrosine Kinases / Adaptors

    4 Tocris Bioscience Pathways for ERBB3
        Akt Pathway
    Apoptosis Pathway
    NF-kappaB Pathway
    MAPK Pathway

    3 GeneGo (Thomson Reuters) Pathways for ERBB3
        Development ERBB-family signaling
    Development Ligand-independent activation of ESR1 and ESR2
    Apoptosis and survival Role of CDK5 in neuronal death and survival

    Selected BioSystems Pathways for ERBB3 (see all 7)
        Heart Development
    ErbB signaling pathway
    Signaling Pathways in Glioblastoma
    IL-6 Signaling Pathway
    a6b1 and a6b4 Integrin signaling

    1 Sino Biological Pathway for ERBB3
        EGFR Signaling Pathway

    Selected Reactome Pathways for ERBB3 (see all 8)
        Downregulation of ERBB2:ERBB3 signaling
    GRB7 events in ERBB2 signaling
    PI3K events in ERBB2 signaling
    SHC1 events in ERBB2 signaling
    Signaling by ERBB2

    1 PharmGKB Pathway for ERBB3
        EGFR Inhibitor Pathway, Pharmacodynamics

    5 Kegg Pathways  (Kegg details for ERBB3):
        ErbB signaling pathway
    Calcium signaling pathway
    Endocytosis
    Proteoglycans in cancer
    MicroRNAs in cancer

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ERBB3 (see all 6): 
              Lung Cancer in human mouse rat
              Estrogen Receptor Signaling in human mouse rat
              Cancer Drug Targets in human mouse rat
              Multiple Sclerosis in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ERBB3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ERBB3 (P218601, 2, 3 ENSP000002671014) via UniProtKB, MINT, STRING, and/or I2D (see all 205)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIK3R2O004591, 2, 3, ENSP000002222544EBI-720706,EBI-346930 MINT-74627 MINT-74618 MINT-61512 MINT-74629 MINT-74637 MINT-61520 MINT-74625 MINT-74638 MINT-61513 MINT-74624 MINT-74636 MINT-74633 MINT-74628 MINT-61519 MINT-74626 MINT-74639 MINT-61516 MINT-74635 MINT-74634 MINT-61517 I2D: score=5 STRING: ENSP00000222254
    ABL2P426841, 2, 3, ENSP000003565954EBI-720706,EBI-1102694 MINT-74450 MINT-74445 MINT-74452 MINT-74446 MINT-74447 MINT-74451 MINT-74448 MINT-74453 MINT-74449 MINT-74454 I2D: score=2 STRING: ENSP00000356595
    PIK3R3Q925691, 2, 3, ENSP000002627414EBI-720706,EBI-79893 MINT-74643 MINT-74669 MINT-74652 MINT-74647 MINT-74651 MINT-74656 MINT-74653 MINT-74672 MINT-74644 MINT-74668 MINT-74646 MINT-74645 MINT-74667 MINT-74654 MINT-74666 MINT-74665 MINT-74657 MINT-74655 MINT-74670 MINT-74671 I2D: score=2 STRING: ENSP00000262741
    PIK3R1P279861, 2, 3, ENSP000002743354EBI-720706,EBI-79464 MINT-74605 MINT-74614 MINT-74600 MINT-74611 MINT-74604 MINT-74616 MINT-74613 MINT-74601 MINT-74612 MINT-74617 MINT-74615 MINT-74597 MINT-74602 MINT-74596 MINT-74603 I2D: score=7 STRING: ENSP00000274335
    GRB7Q144511, 2, 3, ENSP000003107714EBI-720706,EBI-970191 MINT-74546 MINT-74548 MINT-74545 MINT-74547 MINT-8027964 MINT-8034751 I2D: score=5 STRING: ENSP00000310771
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003197endocardial cushion development IEA--
    GO:0006468protein phosphorylation ----
    GO:0007162negative regulation of cell adhesion IDA7556068
    GO:0007165signal transduction IDA10572067
    GO:0007169transmembrane receptor protein tyrosine kinase signaling pathway ISS7514177

    Find genes that share ontologies with ERBB3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for ERBB3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Iressa Orally active, selective EGFR inhibitor [184475-35-2]
    AG 490 EGFR-kinase inhibitor. Also JAK2, JAK3 inhibitor [133550-30-8]
    JNJ 28871063 hydrochloridePotent ErbB receptor family inhibitor[944341-54-2]
    AG 1478 hydrochlorideHighly potent EGFR-kinase inhibitor[153436-53-4]
    GenisteinEGFR kinase inhibitor. Also estrogen and PPARgamma ligand[446-72-0]

    2 HMDB Compounds for ERBB3    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    2 IUPHAR Ligands for ERBB3 (v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian))    About this table
    LigandTypeActionAffinityPubmed IDs
    neuregulin-1
    NoneNone--
    neuregulin-2
    NoneNone--

    Selected Novoseek inferred chemical compound relationships for ERBB3 gene (see all 47)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 83.3 232 7514177 (4), 7929151 (4), 8058768 (4), 11189010 (3) (see all 99)
    pertuzumab 81.7 15 19737968 (6), 17627612 (3), 18632642 (2), 17547474 (1) (see all 5)
    hrgbeta1 81.6 3 12209601 (2)
    gefitinib 81.5 55 15731348 (7), 18803287 (5), 17638894 (4), 16818711 (3) (see all 20)
    trastuzumab 79.3 18 20103628 (5), 18625725 (2), 19276389 (1), 19934333 (1) (see all 12)
    lapatinib 77.3 6 16020981 (1), 18334972 (1), 14737100 (1), 15755991 (1)
    erlotinib 69.3 17 16928826 (7), 17457047 (5)
    cetuximab 69.1 8 19276677 (2), 18297114 (2), 15585383 (1), 16424038 (1) (see all 6)
    phosphatidylinositol 64.8 45 7929151 (5), 7535767 (4), 9886492 (2), 8732665 (2) (see all 22)
    ag 1478 57.2 3 18682844 (1), 10533979 (1)



    Find genes that share compounds with ERBB3           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for ERBB3 gene (2 alternative transcripts): 
    NM_001005915.1  NM_001982.3  

    Unigene Cluster for ERBB3:

    V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)
    Hs.118681  [show with all ESTs]
    Unigene Representative Sequence: NM_001982
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000549282 ENST00000549061 ENST00000267101(uc001sjh.3 uc009zoj.3 uc010sqb.2 uc010sqc.2 uc009zok.3 uc001sjk.3)
    ENST00000411731(uc001sjg.3) ENST00000550869 ENST00000551085 ENST00000546884
    ENST00000551242 ENST00000549672 ENST00000415288(uc001sjj.1) ENST00000549472
    ENST00000546748 ENST00000551176(uc001sji.3) ENST00000549205 ENST00000550828
    ENST00000550070 ENST00000549644 ENST00000553131
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ERBB3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ERBB3 (see all 57):
    hsa-miR-106a hsa-miR-301a hsa-miR-500a hsa-miR-766 hsa-miR-519a hsa-miR-877* hsa-miR-93 hsa-miR-3613-3p
    SwitchGear 3'UTR luciferase reporter plasmidERBB3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ERBB3
    Predesigned siRNA for gene silencing in human, mouse, rat ERBB3
    Clone
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    OriGene clones in human, mouse for ERBB3 (see all 15)
    OriGene ORF clones in mouse, rat for ERBB3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ERBB3 (NM_001005915)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ERBB3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERBB3
    Addgene plasmids for ERBB3 
    Primer
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    OriGene qPCR primer pairs and template standards for ERBB3
    OriGene qSTAR qPCR primer pairs in human, mouse for ERBB3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ERBB3
      QuantiTect SYBR Green Assays in human, mouse, rat ERBB3
      QuantiFast Probe-based Assays in human, mouse, rat ERBB3
    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-11716) for ERBB3 

    Additional mRNA sequence: 

    AF086028.1 AK124710.1 AK125028.1 AK291681.1 AK294719.1 AK295650.1 AK300909.1 BC002706.2 
    BC041579.1 BC082992.1 BT007226.1 M29366.1 M34309.1 S61953.1 U88357.1 U88358.1 
    U88359.1 U88360.1 

    20 DOTS entries:

    DT.98131702  DT.95179527  DT.95102464  DT.100791868  DT.101982408  DT.100700960  DT.213585  DT.100038754 
    DT.91963462  DT.75114482  DT.95184370  DT.86837952  DT.92440238  DT.101982406  DT.121128974  DT.121129014 
    DT.95082546  DT.121634328  DT.444493  DT.91823725 

    Selected AceView cDNA sequences (see all 234):

    AF086028 BU753343 BQ721795 BU193917 AI611284 AI201918 NM_001982 CR621450 
    AI342554 BQ023875 AI873699 BQ218231 BX479156 BQ877641 BC002706 BQ028543 
    W92344 AW375856 BF035030 BP357593 BQ439773 AW796518 BE304403 CB160706 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ERBB3 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b · 16c ^ 17 ^
    SP1:                          -                 -                                                                                         -           -         
    SP2:                                                                                                                                      -           -         
    SP3:                                                                                                                                                            
    SP4:                          -                 -                                         -     -     -     -     -     -     -     -     -     -     -     -   
    SP5:                                                                                                                                                            

    ExUns: 18 ^ 19a · 19b · 19c ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29
    SP1:        -                             -           -                                                         
    SP2:        -           -     -     -     -     -     -                                                         
    SP3:                                      -           -                                                         
    SP4:  -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                     
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for ERBB3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    ERBB3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCGTAAAT
    ERBB3 Expression
    About this image


    ERBB3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 6 entries
             Atrioventricular Valve Cells Atrioventricular Valves
             Cardiac progenitor cells (Sca1+)
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 4 entries
             Immature Schwann Cells Peripheral Nerve Domain
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Ureteric Bud Cells Ureteric Bud
             Ureteric Bud
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
    ERBB3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ERBB3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.118681

    UniProtKB/Swiss-Prot: ERBB3_HUMAN, P21860
    Tissue specificity: Epithelial tissues and brain

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ERBB3 (see all 6): 
              Lung Cancer in human mouse rat
              Estrogen Receptor Signaling in human mouse rat
              Cancer Drug Targets in human mouse rat
              Multiple Sclerosis in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for ERBB3
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ERBB3
    QuantiTect SYBR Green Assays in human, mouse, rat ERBB3
    QuantiFast Probe-based Assays in human, mouse, rat ERBB3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERBB3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for ERBB3 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Erbb31 , 5 v-erb-b2 erythroblastic leukemia viral oncogene homolog more1, 5 86.97(n)1
    90.96(a)1
      10 (77.10 cM)5
    138671  NM_010153.11  NP_034283.11 
     1285675235 
    chicken
    (Gallus gallus)
    Aves ERBB31 v-erb-b2 erythroblastic leukemia viral oncogene homolog more 68.6(n)
    70.86(a)
      693245  NM_001044669.1  NP_001038134.1 
    lizard
    (Anolis carolinensis)
    Reptilia ERBB36
    v-erb-b2 avian erythroblastic leukemia viral oncog...
    67(a)
    1 ↔ 1
    GL343198.1(3603873-3705750)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia erbb31 v-erb-b2 erythroblastic leukemia viral oncogene homolog more 62.24(n)
    62.24(a)
      100493384  XM_002934516.2  XP_002934562.2 
    zebrafish
    (Danio rerio)
    Actinopterygii erbb3a6
    erbb3b6
    v-erb-b2 erythroblastic leukemia viral oncogene ho...
    v-erb-b2 erythroblastic leukemia viral oncogene ho...
    50(a)
    49(a)
    1 ↔ many
    1 ↔ many
    6(7383038-7448242) ENSDARG00000006202
    23(25519750-25575005) ENSDARG00000036993


    ENSEMBL Gene Tree for ERBB3 (if available)
    TreeFam Gene Tree for ERBB3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for ERBB3 gene
    SYK2  TNK12  JAK32  JAK22  TNK22  TYK22  ERBB42  JAK12  
    PTK22  ERBB22  ZAP702  EGFR2  PTK2B2  
    16 SIMAP similar genes for ERBB3 using alignment to 9 protein entries:     ERBB3_HUMAN (see all proteins):
    c-erbB-3    EPHA4    ERBB4    FGFR1    EGFR    ERBB2
    HER-2    ABL1    EPHA2    tec    FGR    INSR
    RYK    DKFZp686M05208    MAP3K11    TXK

    Find genes that share paralogs with ERBB3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for ERBB3 (see all 735)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0421034
    An ovarian mucinous carcinoma sample4--see VAR_0421032 V M mis40--------
    rs1513113581,2
    Cuntested156493973(+) TTTTAA/C/GGTCCA 2 S G mis10--------
    rs1478025941,2
    --56472042(+) GCCCAG/TCTAAT 2 -- us2k10--------
    rs1834990241,2
    --56472052(+) TTTTTA/GTATTT 2 -- us2k10--------
    rs1894518901,2
    --56472100(+) GTCTCA/GAACTC 2 -- us2k10--------
    rs1924880001,2
    --56472126(+) CTGCCC/TGCCTC 2 -- us2k10--------
    rs349388371,2
    C--56472279(+) GTCTC-/AAAAAA 2 -- us2k10--------
    rs1450070731,2
    --56472286(+) AAAAAA/CAAAAA 2 -- us2k10--------
    rs580348091,2
    C--56472293(+) AAAAA-/A/GGAAAA 2 -- us2k11NA 2
    rs764541111,2
    --56472294(+) AAAAAA/GAAAAG 2 -- us2k10--------
    rs753413121,2
    C--56472299(+) GAAAAA/GAAAAA 2 -- us2k10--------
    rs1449111051,2
    --56473315(+) CCGCCC/TCCCAT 2 -- us2k10--------
    rs1854578351,2
    --56473492(+) ACACCA/CTCCCC 2 -- us2k10--------
    rs1492160501,2
    --56473516(+) AGAGAA/GAAATA 2 -- us2k10--------
    rs37590931,2
    C,F,H--56473548(+) CACCAA/GGTGAA 2 -- us2k15Minor allele frequency- G:0.01MN EA NS 714
    rs1156996101,2
    C,F--56473780(+) CTCGGG/AGCAGG 2 -- us2k11Minor allele frequency- A:0.34WA 118
    rs72971751,2
    C,F,A,H--56473808(+) ATCCCC/TACTCC 2 -- us2k18Minor allele frequency- T:0.40NA WA EA 370
    rs3740776121,2
    C--56473874(+) CCTCC-/CTC   
      T
    /TTCT
    CTCTC
    4 -- us2k1 ut510--------
    rs1414702871,2
    C--56473875(+) CCTCC-/CT    
       
    /TCTC
    CTCTC
    3 -- us2k1 ut510--------
    rs740945181,2
    C,F--56473890(+) CTCTCT/ACACAC 2 -- us2k1 ut514Minor allele frequency- A:0.11WA CSA 124
    rs1139498391,2
    C--56473892(+) CTCTCT/ACACAC 2 -- ut511Minor allele frequency- A:0.50CSA 2
    rs343797661,2,,4
    C--56474143(+) GGGCTC/ACGAGG 4 /Y /S mis12Minor allele frequency- A:0.00NA 4
    rs1900345311,2
    C--56474162(+) TCTCAA/GGCAGG 4 Q syn10--------
    rs1816209281,2
    C--56474321(+) AGGCTC/TGGGTT 2 -- int10--------
    rs37414991,2
    C,F,A,H--56474379(+) CCTTCC/TCCAGA 2 -- int127Minor allele frequency- T:0.28EA MN NS NA WA CSA 4203
    rs47592291,2
    C,F,A,H--56474480(-) TGAAGC/TTCCCT 2 -- int128Minor allele frequency- T:0.28MN EA NS NA WA CSA 2708
    rs1864609911,2
    --56474636(+) GAGGGA/GGTTGT 2 -- int10--------
    rs1885438161,2
    --56474857(+) CATCTA/GCTATA 2 -- int10--------
    rs1434175611,2
    --56475098(+) CTCCCA/GTGCTA 2 -- int10--------
    rs740945201,2
    C,F--56475167(+) TGTGGA/CTCTCC 2 -- int13Minor allele frequency- C:0.10WA 122
    rs771939721,2
    --56475327(+) TGGAGG/TGGGGT 2 -- int10--------
    rs762192161,2
    F--56475348(+) CTGGCG/CTGGGA 2 -- int11Minor allele frequency- C:0.05NA 120
    rs740945211,2
    C--56475443(+) ACCCTC/TCCTGG 2 -- int12Minor allele frequency- T:0.10WA 120
    rs740945221,2
    C,F--56475478(+) GGTCTC/TTTTAC 2 -- int13Minor allele frequency- T:0.11WA 122
    rs1852331021,2
    --56475844(+) AGGGAA/GCTGGG 2 -- int10--------
    rs762475371,2
    C--56475873(+) CCTTCA/CAAGCA 2 -- int10--------
    rs1912099181,2
    --56476115(+) GGGGTA/GTCCTG 2 -- int10--------
    rs15082111,2
    C,F,H--56476302(-) ACATAC/TACCCC 2 -- int113Minor allele frequency- T:0.05EA NA NS WA CSA 610
    rs1175707941,2
    C,F--56476326(+) GGGGCC/TTCACC 2 -- int11Minor allele frequency- T:0.03NA 120
    rs733383961,2
    C,F--56476532(+) AGAAGA/GGTGAA 2 -- int14Minor allele frequency- G:0.11WA CSA 124
    rs572375591,2
    C,F--56476567(+) CCTCTA/GGTCTA 2 -- int11Minor allele frequency- G:0.30WA 118
    rs800101411,2
    --56476754(+) AGTGTG/TTTGGG 2 -- int10--------
    rs2022222931,2
    C--56476854(+) ATTGA-/CCCCCC 2 -- int10--------
    rs1872184161,2
    --56477191(+) GTTGCA/GGCCTT 2 -- int10--------
    rs1915905151,2
    --56477393(+) CGCTTA/GTGGGA 2 -- int10--------
    rs2010818501,2
    F--56477471(+) TTTGGG/AGATGG 2 -- int11Minor allele frequency- A:0.01EU 593
    rs1383397331,2
    --56477477(+) GATGGC/TAGATG 2 -- int10--------
    rs22711951,2
    C,F,H--56477489(-) AAATTC/ATCAGC 2 -- int119Minor allele frequency- A:0.03EA NS NA WA CSA 3008
    rs560171571,2,,4
    C,F--56477541(+) GTGTCC/TTGGGA 4 P L mis12Minor allele frequency- T:0.00NA EU 5875
    rs1437707961,2
    C--56477669(+) ATGCCA/G/TACCTC 6 N D Y mis11NA 4552
    rs1998060011,2
    --56477683(+) TTCCTA/GCAGGT 4 L syn10--------
    rs22711941,2
    C,F,A,H--56477694(-) TGGGCA/TCACTA 2 -- int120Minor allele frequency- T:0.33EA NS NA WA CSA EU 4014
    rs1880326491,2
    --56477850(+) ATCTGA/GGACCT 2 -- int10--------
    rs1900368481,2
    --56477851(+) TCTGGA/GACCTA 2 -- int10--------
    rs1428789441,2
    --56477859(+) CTATGA/GTCTCA 2 -- int10--------
    rs1822846221,2
    --56477998(+) AGGGGA/CCCTAC 2 -- int10--------
    rs108768701,2
    C,F,A,H--56478002(+) GCCCTC/ACTGGT 2 -- int120Minor allele frequency- A:0.47NS EA NA WA CSA 2347
    rs1449690611,2
    C--56478133(+) CTCATA/GCCTGT 2 -- int10--------
    rs1866277111,2
    --56478188(+) TCAGGA/CGTTCA 2 -- int10--------
    rs1911313991,2
    C--56478220(+) TGAAAC/TGCTGT 2 -- int10--------
    rs345766011,2
    C,F--56478383(+) TCACC-/A/AAA 
            
    AAAAA
    4 -- int1 cds12NA 4
    rs128174711,2
    C,F--56478607(+) AGCCTG/AGGCAA 2 -- int13Minor allele frequency- A:0.50CSA 6
    rs749288131,2
    C,F--56478614(+) GCAACG/AAGAGC 2 -- int13Minor allele frequency- A:0.50WA CSA 6
    rs79717511,2
    C,F,A,H--56478658(+) AAAGAC/AAGGAA 2 -- int1 trp324Minor allele frequency- A:0.47NS EA NA WA CSA 2350
    rs733384021,2
    C,F--56478682(+) AATTAA/GAACAG 2 -- int14Minor allele frequency- G:0.11WA CSA 124
    rs778301691,2
    F--56478684(+) TTAAAC/ACAGTT 2 -- int11Minor allele frequency- A:0.50NA 4
    rs2013785761,2
    --56478802(+) GGCTAC/TGTCCT 4 Y syn10--------
    rs2008568641,2
    --56478830(+) TCTCTA/GCTCTA 4 T A mis10--------
    rs1423588771,2
    C,F--56478850(+) AACCTC/ACGCGT 4 /L syn11Minor allele frequency- A:0.00NA 4552
    rs1855771861,2
    C--56478859(+) GTGGTA/GCGAGG 4 V syn10--------
    rs1995863041,2
    C--56479008(+) GCCAGC/TCCAAG 3 A V mis1 int10--------
    rs1889559931,2
    C--56479088(+) TGGCCA/GCTGTC 3 T A mis1 int10--------
    rs795811771,2
    C,F--56479214(+) TTAACC/TGTTTT 2 -- ut31 int11Minor allele frequency- T:0.50CSA 2
    rs1486559051,2
    C--56479243(+) TGTACC/TGGAGG 2 -- ut31 int10--------
    rs1929348211,2
    --56479509(+) CACCAC/TTGCAC 2 -- ds5001 int10--------
    rs572743701,2
    C--56479568(+) AAAAA-/AA/AAAA/
    AAAAAAAAAAA
    GCCTG
    2 -- ds5001 int11NA 2
    rs1852311011,2
    --56479825(+) TCCAGC/TCTGGG 2 -- ds5001 int10--------
    rs593985181,2
    C--56479831(+) CTGGGC/TGACAG 2 -- ds5001 int10--------
    rs569268531,2
    C--56479868(+) AAAAA-/A/AAA 
            
    CCAAA
    2 -- ds5001 int11NA 2
    rs1144022941,2
    F--56479960(+) AATATA/CGGGGT 1 -- int11Minor allele frequency- C:0.03WA 118
    rs797686611,2
    C,F--56480086(+) TCCCCC/TACTAG 1 -- int11Minor allele frequency- T:0.14EA 120
    rs1178595971,2
    F--56480100(+) AACCGG/CATCTG 1 -- int11Minor allele frequency- C:0.01NA 120
    rs1132672291,2
    C--56480285(+) GGCCCC/TTAACC 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs1153116631,2
    C,F--56480308(+) TCCCTA/TCCTCA 1 -- int11Minor allele frequency- T:0.02WA 118
    rs1474126571,2
    C--56480349(+) AAGAAC/TGATAA 2 N syn10--------
    rs1417006231,2
    F--56480362(+) TTTGTC/TACATG 2 H Y mis11Minor allele frequency- T:0.00NA 4552
    rs1887954931,2
    C--56480374(+) ACACAA/GTTGAC 2 I V mis10--------
    rs2009782691,2
    C--56480402(+) GGACCA/GAGATG 2 Q R mis10--------
    rs792221571,2
    C,F--56480474(+) CAGTCC/ACACCA 1 -- int12Minor allele frequency- A:0.05NA EU 1443
    rs8776361,2
    C,F,A,H--56480583(-) GTCTGT/CCCTGG 1 -- int127Minor allele frequency- C:0.36NS EA NA WA CSA 2703
    rs7056961,2
    C,F--56480648(-) ATGCTC/TGGCCT 1 -- int16Minor allele frequency- T:0.21NA WA EA 364
    rs1812767331,2
    --56480686(+) TTTGGA/GAAGCC 1 -- int10--------
    rs1125784401,2
    F--56480766(+) AAATTA/TAAAAA 1 -- int12Minor allele frequency- T:0.04CSA WA 120
    rs339270601,2
    C--56480920(+) GTCTC-/AAAAAA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs710749001,2
    C--56480921(+) AAAAT-/A/AA  
            
    CCCTG
    1 -- int11NA 2
    rs1473187741,2
    C--56480943(+) ATCCC-/TGAGTA 1 -- int10--------
    rs1839331511,2
    --56480955(+) TAAGCA/GGGGAA 1 -- int10--------
    rs1451747371,2
    --56481013(+) CTCCCA/GTTTCC 1 -- int10--------
    rs1509303071,2
    --56481040(+) CCTGAC/TCATTC 1 -- int10--------
    rs122270401,2
    C,F,H--56481118(+) ACTAAG/AGTTGG 1 -- int113Minor allele frequency- A:0.04NS EA NA 1748
    rs1169606111,2
    C--56481334(+) TGGCCC/GCTTGT 1 -- int12Minor allele frequency- G:0.00EA EU 1221
    rs1999571751,2
    C--56481345(+) GTTGCC/TTTCCT 1 -- int10--------
    rs1883129531,2
    C--56481389(+) AAGGGA/GCGATG 2 G syn10--------
    rs561074551,2,,4
    C,F--56481424(+) CCAGAC/TATGTG 2 T I mis11Minor allele frequency- T:0.00NA 4552
    rs756110931,2
    C--56481448(+) CTCCAA/GAAACT 1 -- int10--------
    rs2021620331,2
    --56481575(+) CTTCCA/GTAGTG 1 -- int10--------
    rs2010792001,2
    --56481650(+) GCCATA/GATGAG 2 N D mis10--------
    rs2003432221,2
    --56481728(+) TTCTGA/GAATTG 1 -- int10--------
    rs773651071,2
    C--56481735(+) ATTGGG/CATGTG 1 -- int12Minor allele frequency- C:0.00WA EU 1441
    rs786633221,2
    C,F--56481775(+) GTAACA/GTAAAT 1 -- int12Minor allele frequency- G:0.01NA EU 1443
    rs1496358481,2
    C,F--56481925(+) GAGGAG/ATTTGT 2 /I /V mis11Minor allele frequency- A:0.00NA 4548
    rs1995261311,2
    --56481966(+) GGAAGA/GAACAA 1 -- int10--------
    rs1806725701,2
    --56482107(+) CAGTCC/TTCCCA 1 -- int10--------
    rs22922391,2
    C,F,A,H--56482180(-) GCCCTC/ATAGAT 1 -- int135Minor allele frequency- A:0.28EA NS NA WA CSA 4641
    rs1139758571,2
    C,F--56482237(+) GAGCTG/TGAGGG 1 -- int12Minor allele frequency- T:0.50CSA 4
    rs1872777891,2
    C--56482454(+) GAGATG/TGTAAG 1 -- int10--------
    rs1458737001,2
    C--56482515(+) TGAACC/TTCTCT 1 -- int10--------
    rs1406480081,2
    C,F--56482614(+) AAGATC/TCTGGG 2 I syn12Minor allele frequency- T:0.00NA EU 5875
    rs2002113661,2
    C--56482649(+) CCTCAA/GTGGGT 2 N S mis11Minor allele frequency- G:0.00EU 1323
    rs1921461021,2
    C--56482691(+) GCCCAC/TGCACC 1 -- int10--------
    rs1443771561,2
    C,F--56482854(+) ATTCAA/GTATCG 1 -- int11Minor allele frequency- G:0.01EU 587
    rs753759611,2
    C,F--56482859(+) ATATCG/ACCCTG 1 -- int11Minor allele frequency- A:0.29WA 118
    rs1818581831,2
    --56482914(+) TTTCTC/TTTTTA 1 -- int10--------
    rs1474916261,2
    C--56482919(+) TTTTA-/TTCTTCTT 1 -- cds10--------
    rs1868750791,2
    --56482969(+) CTGGAA/GTGCAG 1 -- int10--------
    rs1466158751,2
    --56483093(+) AGAGAC/GAGGGT 1 -- int10--------
    rs1902728191,2
    --56483155(+) CCATCC/TTGGCC 1 -- int10--------
    rs1825635451,2
    --56483259(+) GGGCCC/TGGTGG 1 -- int10--------
    rs1412921331,2
    C--56483298(+) AGGCCA/GAGGTG 1 -- int10--------
    rs1868387841,2
    --56483344(+) TAACAA/TGGTGA 1 -- int10--------
    rs1432927571,2
    C--56483383(+) TTAGCC/TGGGTG 1 -- int10--------
    rs1482892331,2
    C--56483467(+) GAAATG/TGCAGT 1 -- int10--------
    rs1898007951,2
    --56483485(+) GATTAC/TACCAC 1 -- int10--------
    rs1404547181,2
    --56483491(+) ACCACC/TGCACT 1 -- int10--------
    rs360355781,2
    C,F--56483535(+) AAAAAA/GAAAAG 1 -- int14Minor allele frequency- G:0.09NA WA CSA 125
    rs1511961391,2
    C--56483651(+) TAAAA-/TGTGTGT 1 -- int10--------
    rs733403051,2
    C,F--56483675(+) AAAAAC/ACCACT 1 -- int13Minor allele frequency- A:0.10WA 122
    rs107194491,2
    C--56483692(+) ACCTG-/TTTTTT 1 -- int1 trp32Minor allele frequency- T:0.00NA CSA 4
    rs1826874921,2
    --56483724(+) TTGACA/TTAATT 1 -- int10--------
    rs1889237231,2
    --56483819(+) CCCCAA/GGCTAG 1 -- int10--------
    rs1501601861,2
    C--56483837(+) TGGTGC/TAATCT 1 -- int10--------
    rs1932342161,2
    --56483945(+) TGCCCA/GGCTAA 1 -- int10--------
    rs1853626951,2
    C--56483989(+) ATGTAA/GGCCAG 1 -- int10--------
    rs1874826321,2
    --56484008(+) CGAACC/TCCTGA 1 -- int10--------
    rs111717401,2
    C--56484074(+) CCACCA/GCGTCT 1 -- int10--------
    rs128094201,2
    A--56484140(+) gccggA/Gcacag 1 -- int10--------
    rs1389069591,2
    C--56484186(+) TGAGGA/CAGGTG 1 -- int10--------
    rs1841796451,2
    --56484289(+) TGGGCA/GTGGTG 1 -- int10--------
    rs1117539491,2
    C,F--56484301(+) TGTGCA/GCCTGT 1 -- int11Minor allele frequency- G:0.00CSA 1
    rs1474908731,2
    C--56484461(+) TCACT-/TCTCTCT 1 -- int10--------
    rs1123403231,2
    C--56484483(+) TCTCT-/AC    
       
    /ACAC
    ACACA
    1 -- int11CSA 2
    rs2017516651,2
    C--56484484(+) ACACA-/AC/CA 
            
    AAACA
    1 -- int10--------
    rs1140323001,2
    F--56484548(+) AATTTT/GCACAC 1 -- int11Minor allele frequency- G:0.03WA 118
    rs1885559381,2
    --56484757(+) CTTCAA/GTCTCC 1 -- int10--------
    rs108768711,2
    C,F,A,H--56485059(+) ATATAT/AATATA 1 -- int11Minor allele frequency- A:0.33NA 6
    rs108768721,2
    C,A,H--56485065(+) ATATAA/TATATA 1 -- int10--------
    rs108768731,2
    C,H--56485092(+) ATATAA/TAAATA 1 -- int10--------
    rs116147511,2
    C,H--56485094(+) atataA/Tatata 1 -- int10--------
    rs111717411,2
    C,H--56485100(+) atataA/Tatata 1 -- int10--------
    rs1809218821,2
    --56485194(+) TATATA/TTTTTT 1 -- int10--------
    rs108768741,2
    C,A,H--56485196(+) TATATA/TTTTTT 1 -- int1 trp30--------
    rs593341251,2
    --56485198(+) TATTTA/TTTTTT 1 -- int10--------
    rs1381580471,2
    --56485253(+) AGTGGC/TGTGAT 1 -- int10--------
    rs1823798291,2
    --56485268(+) GCTCAC/TGCAAC 1 -- int10--------
    rs7988291,2
    C,F,H--56485269(+) CTCACG/ACAACC 1 -- int16Minor allele frequency- A:0.32NA WA EA 364
    rs1861031381,2
    --56485384(+) CCCAAA/TGTGCT 1 -- int10--------
    rs756686521,2
    C,F--56485505(+) ACTCAC/TAATGA 1 -- int11Minor allele frequency- T:0.02EA 120
    rs1178462381,2
    C,F--56485573(+) TATTTT/CTCCAT 1 -- int11Minor allele frequency- C:0.03NA 120
    rs1434730131,2
    --56485599(+) GTCTTA/GGGATA 1 -- int10--------
    rs118350181,2
    C,F,H--56485869(+) ctgtcT/Acttaa 1 -- int12Minor allele frequency- A:0.33NA 6
    rs1905163431,2
    C--56485931(+) CACTTG/TGGGAG 1 -- int10--------
    rs1486026951,2
    --56485997(+) TGAAAC/TCCTGT 1 -- int10--------
    rs7731161,2
    C,F--56486159(+) atagaG/Acaaga 1 -- int13Minor allele frequency- A:0.50NA 6
    rs1814421331,2
    --56486335(+) CCCTTA/CATTCT 1 -- int10--------
    rs123201761,2,,4
    C,F,H--56486575(+) GCTCAA/GTGTCT 2 N S mis19Minor allele frequency- G:0.00NS EA NA 5538
    rs1397497511,2
    C--56486751(+) ATATGA/CCTCTC 1 -- int10--------
    rs1412300431,2
    C--56486839(+) AACCAT/ATGGAG 2 /N /I mis11Minor allele frequency- A:0.00NA 4550
    rs2016633511,2
    --56486846(+) GGAGGC/GAGAAG 2 G syn10--------
    rs1855340541,2
    --56487055(+) TTCTTA/GACTAA 1 -- int10--------
    rs786677231,2
    C--56487084(+) TTAATA/GTTCCC 1 -- int10--------
    rs2007374501,2
    --56487135(+) CGGGGC/TTTCTC 2 G syn10--------
    rs1996137771,2
    --56487159(+) AAGAAC/TTTGAA 2 N syn10--------
    rs22290451,2
    C,F--56487162(+) AACTTG/AAATGT 2 /L syn13Minor allele frequency- A:0.00MN NA EU 5887
    rs22290461,2
    C,F--56487201(+) GAAATT/CAGTGC 2 /I syn1 ese315Minor allele frequency- C:0.08MN NA EA WA CSA EU 6491
    rs1445492661,2
    C--56487212(+) TGGGCA/GTATCT 2 H R mis10--------
    rs1499517701,2
    C--56487323(+) GCCGCG/ACAGAG 2 /H /R mis11Minor allele frequency- A:0.00NA 4550
    rs1826927821,2
    C--56487334(+) ACTGCG/TGTGAG 2 V L mis10--------
    rs1465937601,2
    C--56487560(+) GGGCAA/TAGTGT 2 K I mis10--------
    rs1451081431,2
    C--56487605(+) CCCAGG/ACCCTG 2 /D /G mis11Minor allele frequency- A:0.00NA 4552
    rs1860805711,2
    C--56487606(+) CCAGGC/TCCTGG 2 G syn10--------
    rs1406707671,2
    C,F--56487618(+) CAGTGC/TTTGTC 2 C syn12Minor allele frequency- T:0.00NA EU 5875
    rs558803271,2
    C,F--56487657(+) TGTGTG/CACCCA 2 /V syn12Minor allele frequency- C:0.00NA EU 5859
    rs2006704891,2
    --56487658(+) GTGTGA/TCCCAC 2 T S mis10--------
    rs1413557691,2
    --56487707(+) AAGGAC/TGGGTG 1 -- int10--------
    rs1840821411,2
    C--56487728(+) CCTGCA/GATGGA 1 -- int10--------
    rs1497901081,2
    --56487761(+) AAAGTC/TTTTAG 1 -- int10--------
    rs1457741331,2
    C--56487858(+) ACCCCC/GCCCTC 1 -- int10--------
    rs2001840711,2
    --56487877(+) CCCCAA/CTACAG 1 -- int10--------
    rs2019427351,2
    --56487921(+) CTTCTC/TCTGCC 2 S F mis10--------
    rs1489625561,2
    C--56487998(+) ATCTCC/TAAGGG 1 -- int10--------
    rs782322071,2
    C--56488008(+) GAGACA/GGAGAA 1 -- int10--------
    rs740945351,2
    C--56488168(+) CTGACC/TTTCTC 1 -- int11Minor allele frequency- T:0.50WA 2
    rs2011125361,2
    --56488206(+) GCTCAA/GTGTGC 2 Q syn10--------
    rs2003505581,2
    --56488220(+) TTTTCA/GAGATG 2 Q R mis10--------
    rs560731511,2
    C--56488261(+) GAGTCC/TTAGGT 2 L syn10--------
    rs2012509121,2
    --56488293(+) TACCCA/CGATGT 2 P syn10--------
    rs2005748171,2
    --56488321(+) CCTGCC/GATGAG 2 H D mis10--------
    rs1922377881,2
    --56488694(+) TGCATA/CATTGT 1 -- int10--------
    rs114250441,2
    C--56488735(+) AAAAAA/-GAATC 1 -- int1 trp32Minor allele frequency- -:0.25NA CSA 4
    rs1828964391,2
    --56488846(+) CTCAGC/TTCAAG 1 -- int10--------
    rs1383383311,2
    --56488884(+) AGAGCA/TAGTGA 1 -- int10--------
    rs790207571,2
    C--56488906(+) AGGCCA/TTGTCT 1 -- int10--------
    rs7057081,2
    C,F,A,H--56488913(+) GTCTTA/GGGATC 1 -- int131Minor allele frequency- T:0.01EA NA NS WA 3020
    rs1873024741,2
    --56488962(+) GAAACA/GAGCTT 1 -- int10--------
    rs1414358731,2
    C--56488998(+) GCCTCG/TGCTGT 1 -- int10--------
    rs1997979011,2
    --56489024(+) AGGTGG/TTGACT 1 -- int10--------
    rs1410543461,2
    C--56489084(+) CACTGG/ATGCTG 2 /M /V mis11Minor allele frequency- A:0.00NA 4550
    rs1470106831,2
    C--56489113(+) GGAGAT/GTCTGG 1 -- int11Minor allele frequency- G:0.00EU 1323
    rs755268301,2
    F--56489394(+) TTGACA/GTTTGT 1 -- int10--------
    rs2007245601,2
    --56489540(+) GTGGGC/TGCCGG 2 R C mis10--------
    rs563874881,2,,4
    C--56489582(+) TGGAAC/TGGGGT 2 R W mis11Minor allele frequency- T:0.00NA 4552
    rs1380726551,2
    C,F--56489613(+) TTTTGT/CTTTTT 1 -- int11Minor allele frequency- C:0.00EU 1323
    rs1845329521,2
    --56489793(+) GAGAAA/GTGGGA 1 -- int10--------
    rs1417429931,2
    --56489798(+) ATGGGA/TGGCAT 1 -- int10--------
    rs1894131871,2
    --56489912(+) TTGTCC/GTTCCA 1 -- int10--------
    rs1921512731,2
    --56489950(+) ATGTAC/TGTGAA 1 -- int10--------
    rs757709041,2
    C--56489954(+) ATGTG-/AAAGTG 1 -- int10--------
    rs1505285321,2
    --56490030(+) TAGCTA/GTCCCC 1 -- int10--------
    rs1384297251,2
    --56490147(+) GCCTAC/TAATCC 1 -- int10--------
    rs1847806021,2
    --56490181(+) TCTTCC/TTGCCC 1 -- int10--------
    rs1492796401,2
    --56490214(+) ATTCAC/TCTATG 1 -- int10--------
    rs1891938481,2
    C--56490272(+) CCTTCC/TCATTT 1 -- int10--------
    rs1816593291,2
    C--56490306(+) GGACCA/CCAGTG 2 H P mis10--------
    rs359618361,2,,4
    C,F,H--56490381(+) TGGCTC/TGGGTG 2 S L mis15Minor allele frequency- T:0.00NS NA EU 6097
    rs1897890181,2
    C--56490398(+) GAACTC/GTGCAC 2 L V mis10--------
    rs38919211,2
    C,H--56490628(+) TGACAG/CATGTA 2 /H /D mis1 ese36Minor allele frequency- C:0.00NS EA NA 410
    rs1812914051,2
    C--56490656(+) ATGCCA/GCTAGG 1 -- int10--------
    rs1861833941,2
    --56490747(+) GGGGTG/TGGGGG 1 -- int10--------
    rs1444360141,2
    C--56490794(+) ACCTGC/TTGGTT 1 -- int10--------
    rs1391407021,2
    C--56490820(+) TTTGTC/GTCTCT 1 -- int10--------
    rs1998766541,2
    --56490822(+) TGTGTC/TTCTTA 1 -- int10--------
    rs2022212371,2
    C--56490893(+) CCCAGA/GGTCAT 2 E G mis10--------
    rs2013099811,2
    --56490894(+) CCAGGA/GTCATC 2 G syn10--------
    rs1445108471,2
    C--56490937(+) GTTCTC/GTGCTG 2 L V mis11Minor allele frequency- G:0.00NA 4552
    rs1821544251,2
    C--56490965(+) CCGGGG/TGGCAC 2 G V mis10--------
    rs2002560951,2
    C--56491042(+) CTGTGA/GTAAGA 1 -- int10--------
    rs1150532961,2
    F--56491190(+) GCAAGC/TGAGTG 1 -- int11Minor allele frequency- T:0.01WA 118
    rs1864765861,2
    --56491271(+) CAGGGA/GCAGCA 1 -- int10--------
    rs349869351,2
    C,F,H--56491415(+) CCCTTC/TCCCTG 1 -- int13Minor allele frequency- T:0.01NS NA 350
    rs74881671,2
    H--56491510(+) AATTCC/GAGATC 1 -- int14Minor allele frequency- G:0.00NS EA 416
    rs3766622241,2
    C--56491521(+) TCAGTA/GACTGA 1 -- int10--------
    rs2018929711,2
    --56491580(+) TACTAC/TCTTGA 2 Y syn10--------
    rs2011496031,2
    --56491637(+) CTCAAA/GTCACC 2 K syn10--------
    rs1430212521,2
    C--56491714(+) ATACAA/GTGAGG 2 N S mis10--------
    rs76079275