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ERBB2IP Gene

protein-coding   GIFtS: 64
GCID: GC05P065223

Erbb2 Interacting Protein

(Previous name: erbb2-interacting protein)
  See 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
Erbb2 Interacting Protein1 2     HEL-S-782
Densin-180-Like Protein1 2 3     Epididymis Secretory Protein Li 782
ERBIN2 3 5     Protein LAP22
Erbb2-Interacting Protein1 3     Erbin3
LAP22 3     KIAA12253

External Ids:    HGNC: 158421   Entrez Gene: 559142   Ensembl: ENSG000001128517   OMIM: 6069445   UniProtKB: Q96RT13   

Export aliases for ERBB2IP gene to outside databases

Previous GC identifers: GC05P065374 GC05P066760 GC05P065192 GC05P065238 GC05P065225 GC05P065258 GC05P062180


(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 ERBB2IP Gene:
This gene is a member of the leucine-rich repeat and PDZ domain (LAP) family. The encoded protein contains 17
leucine-rich repeats and one PDZ domain. It binds to the unphosphorylated form of the ERBB2 protein and regulates
ERBB2 function and localization. It has also been shown to affect the Ras signaling pathway by disrupting Ras-Raf
interaction. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this
gene. (provided by RefSeq, Nov 2011)

GeneCards Summary for ERBB2IP Gene:
ERBB2IP (erbb2 interacting protein) is a protein-coding gene. Diseases associated with ERBB2IP include epidermolysis bullosa dystrophica, and arteriovenous malformation. GO annotations related to this gene include ErbB-2 class receptor binding and structural constituent of cytoskeleton. An important paralog of this gene is LRRC8E.

UniProtKB/Swiss-Prot: LAP2_HUMAN, Q96RT1
Function: Acts as an adapter for the receptor ERBB2, in epithelia. By binding the unphosphorylated 'Tyr-1248' of
receptor ERBB2, it may contribute to stabilize this unphosphorylated state

Gene Wiki entry for ERBB2IP (Erbin) 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:
NC_000005.10  NT_034772.7  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ERBB2IP gene promoter:
         AhR   NF-1   NF-1/L   AML1a   HOXA3   Arnt   FOXO4   FOXO1a   En-1   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): ERBB2IP promoter sequence
   Search Chromatin IP Primers for ERBB2IP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ERBB2IP


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

Entrez Gene cytogenetic band: 5q12.3   Ensembl cytogenetic band:  5q12.3   HGNC cytogenetic band: 5p14.3-q12.3

ERBB2IP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ERBB2IP gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P065223:  view genomic region     (about GC identifiers)

Start:
65,222,303 bp from pter      End:
65,378,377 bp from pter
Size:
156,075 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: LAP2_HUMAN, Q96RT1 (See protein sequence)
Recommended Name: Protein LAP2  
Size: 1412 amino acids; 158298 Da
Subunit: Interacts with ERBB2, BPAG1 and ITGB4. May favor the localization of ERBB2, by restricting its presence
to the basolateral membrane of epithelial cells. Also found to interact with ARVCF and delta catenin. Interacts
(via C-terminus) with DST Isoform 3 (via N-terminus)
Sequence caution: Sequence=AAH50692.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=BAA91538.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
6 PDB 3D structures from and Proteopedia for ERBB2IP:
1MFG (3D)        1MFL (3D)        1N7T (3D)        2H3L (3D)        2QBW (3D)        3CH8 (3D)    
Secondary accessions: A0AVR1 B4E3F1 B7ZLV9 E7EQW9 E9PCR8 Q1RMD0 Q86W38 Q9NR18 Q9NW48 Q9ULJ5
Alternative splicing: 9 isoforms:  Q96RT1-1   Q96RT1-2   Q96RT1-3   Q96RT1-4   Q96RT1-5   Q96RT1-6   Q96RT1-7   Q96RT1-8   
Q96RT1-9   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ERBB2IP: NX_Q96RT1

Explore proteomics data for ERBB2IP at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ERBB2IP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001006600.1  NP_001240626.1  NP_001240627.1  NP_001240628.1  NP_001240630.1  NP_061165.1  

    ENSEMBL proteins: 
     ENSP00000284037   ENSP00000370330   ENSP00000397833   ENSP00000370325   ENSP00000422766  
     ENSP00000426632   ENSP00000422015   ENSP00000425728   ENSP00000423959   ENSP00000370326  
     ENSP00000370323   ENSP00000370322  
    Reactome Protein details: Q96RT1

    ERBB2IP Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
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    Novus Biologicals ERBB2IP Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ERBB2IP

    ERBB2IP Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for ERBB2IP (Erbin)
    OriGene Antibodies for ERBB2IP
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    Novus Biologicals ERBB2IP Antibodies
    Abcam antibodies for ERBB2IP
    Cloud-Clone Corp. Antibodies for ERBB2IP
    Search ThermoFisher Antibodies for ERBB2IP
    LSBio Antibodies in human, mouse, rat for ERBB2IP

    ERBB2IP Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for ERBB2IP
    Cloud-Clone Corp. CLIAs for ERBB2IP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR001611 Leu-rich_rpt
     IPR025875 Leu-rich_rpt_4
     IPR001478 PDZ

    Graphical View of Domain Structure for InterPro Entry Q96RT1

    ProtoNet protein and cluster: Q96RT1

    1 Blocks protein domain: IPB001478 PDZ/DHR/GLGF domain

    UniProtKB/Swiss-Prot: LAP2_HUMAN, Q96RT1
    Similarity: Belongs to the LAP (LRR and PDZ) protein family
    Similarity: Contains 17 LRR (leucine-rich) repeats
    Similarity: Contains 1 PDZ (DHR) domain


    ERBB2IP for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LAP2_HUMAN, Q96RT1
    Function: Acts as an adapter for the receptor ERBB2, in epithelia. By binding the unphosphorylated 'Tyr-1248' of
    receptor ERBB2, it may contribute to stabilize this unphosphorylated state

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005176ErbB-2 class receptor binding TAS11375975
    GO:0005178integrin binding IPI11375975
    GO:0005200structural constituent of cytoskeleton NAS11375975
    GO:0005515protein binding IPI11375975
         
    ERBB2IP for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ERBB2IP:
     Synthetic lethal with Ras 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Erbb2ip):
     behavior/neurological  integument  nervous system 

    ERBB2IP for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Erbb2iptm1Line for ERBB2IP

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ERBB2IP
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ERBB2IP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ERBB2IP
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ERBB2IP

    miRNA
    Products:
        
    miRTarBase miRNAs that target ERBB2IP:
    hsa-mir-200a-3p (MIRT020347), hsa-mir-429 (MIRT016636), hsa-mir-32-5p (MIRT028336), hsa-mir-200b-3p (MIRT024125), hsa-mir-877-3p (MIRT037027), hsa-mir-33a-5p (MIRT028201), hsa-mir-26b-5p (MIRT030329), hsa-mir-200c-3p (MIRT021069), hsa-mir-141-3p (MIRT021659), hsa-mir-155-5p (MIRT021046)

    Block miRNA regulation of human, mouse, rat ERBB2IP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ERBB2IP (see all 50):
    hsa-miR-411* hsa-miR-140-5p hsa-miR-642a hsa-miR-379* hsa-miR-25 hsa-miR-301a hsa-miR-519a hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidERBB2IP 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ERBB2IP
    Predesigned siRNA for gene silencing in human, mouse, rat ERBB2IP

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ERBB2IP

    Clone
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    OriGene clones in human, mouse for ERBB2IP (see all 12)
    OriGene ORF clones in mouse, rat for ERBB2IP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ERBB2IP (NM_018695)
    Sino Biological Human cDNA Clone for ERBB2IP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ERBB2IP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERBB2IP

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ERBB2IP 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERBB2IP


    (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
    LAP2_HUMAN, Q96RT1: Cell junction, hemidesmosome. Nucleus membrane (By similarity). Note=Found in
    hemidesmosomes, which are cell-substrate adhesion complexes in stratified epithelia. In transfected cells, either
    diffusely distributed over the cytoplasm or concentrated at the basolateral membrane. Colocalizes with the
    adrenergic receptors, ADREN1A and ADREN1B, at the nuclear membrane of cardiac myocytes (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane5
    extracellular4
    mitochondrion3
    cytosol2
    peroxisome2

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005604basement membrane TAS10878805
    GO:0005634nucleus IDA11375975
    GO:0005737cytoplasm IDA11375975
    GO:0005886plasma membrane TAS--
    GO:0009925basal plasma membrane NAS11375975

    ERBB2IP for ontologies           About GeneDecksing


    (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 ERBB2IP About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    NOD-like receptor signaling pathway0.37
    NOD pathway0.33
    2Signaling by FGFR
    Signaling by ERBB20.89
    3Signaling by GPCR
    Signal Transduction0.58
    4TGF-beta Receptor Signaling Pathway
    TGF-beta Receptor Signaling Pathway
    5NLR proteins
    NLR proteins

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for ERBB2IP
        NOD pathway
    NLR proteins
    TGF-beta Receptor Signaling Pathway
    Alpha6-Beta4 Integrin Signaling Pathway


    1 Reactome Pathway for ERBB2IP
        Signaling by ERBB2


    1 Kegg Pathway  (Kegg details for ERBB2IP):
        NOD-like receptor signaling pathway


    ERBB2IP for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including ERBB2IP: 
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ERBB2IP

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

    Selected Interacting proteins for ERBB2IP (Q96RT11, 2, 3 ENSP000003703304) via UniProtKB, MINT, STRING, and/or I2D (see all 153)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PKP4Q995691, 2, 3, ENSP000003744094EBI-8449250,EBI-726447 MINT-1773305 MINT-1773355 MINT-1777626 MINT-1778254 MINT-1777568 MINT-1777596 I2D: score=5 STRING: ENSP00000374409
    ZFYVE9O954052, 3MINT-62039 I2D: score=3 
    CTNNB1P352222, 3, ENSP000003444564MINT-1792780 I2D: score=2 STRING: ENSP00000344456
    ERBB2P046263, ENSP000002695714I2D: score=5 STRING: ENSP00000269571
    SMAD3P840223, ENSP000003329734I2D: score=5 STRING: ENSP00000332973
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006605protein targeting IEA--
    GO:0007049cell cycle NAS11375975
    GO:0007155cell adhesion NAS11375975
    GO:0007165signal transduction TAS10878805
    GO:0007173epidermal growth factor receptor signaling pathway TAS11375975

    ERBB2IP for ontologies           About GeneDecksing



    (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 

    Browse Tocris compounds for ERBB2IP (LAP2)

    2 Novoseek inferred chemical compound relationships for ERBB2IP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 21.3 5 11375975 (1), 18667832 (1), 12444095 (1), 12379659 (1)
    acetylcholine 16 1 16301319 (1)



    ERBB2IP for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ERBB2IP gene (6 alternative transcripts): 
    NM_001006600.2  NM_001253697.1  NM_001253698.1  NM_001253699.1  NM_001253701.1  NM_018695.3  

    Unigene Cluster for ERBB2IP:

    Erbb2 interacting protein
    Hs.591774  [show with all ESTs]
    Unigene Representative Sequence: NM_001253699
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000284037(uc003juk.2 uc011cqx.2 uc003jui.2 uc003jul.2 uc011cqy.2 uc003juj.2 uc011cqz.2 uc010iwx.2)
    ENST00000380943 ENST00000507490 ENST00000416865 ENST00000380938 ENST00000511297
    ENST00000506030 ENST00000508515 ENST00000507128 ENST00000515185 ENST00000511671
    ENST00000503913 ENST00000512354 ENST00000505822 ENST00000509946 ENST00000506744
    ENST00000380939 ENST00000380936
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ERBB2IP (see all 50):
    hsa-miR-411* hsa-miR-140-5p hsa-miR-642a hsa-miR-379* hsa-miR-25 hsa-miR-301a hsa-miR-519a hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidERBB2IP 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ERBB2IP
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    GenScript: all cDNA clones in your preferred vector (see all 2): ERBB2IP (NM_018695)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERBB2IP
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat ERBB2IP
      QuantiFast Probe-based Assays in human, mouse, rat ERBB2IP

    Additional mRNA sequence: 

    AB033051.2 AF263744.1 AF276423.1 AK001180.1 AK026757.1 AK027077.1 AK074288.1 AK295708.1 
    AK304693.1 BC050692.1 BC115012.1 BC115015.1 BC126464.1 BC144075.1 

    15 DOTS entries:

    DT.100781598  DT.100781595  DT.117180  DT.100781600  DT.95371575  DT.120857944  DT.441994  DT.97794126 
    DT.120857889  DT.100855213  DT.120857948  DT.120857965  DT.95347826  DT.95371692  DT.91740847 

    Selected AceView cDNA sequences (see all 298):

    N51334 BM758679 BU167080 BE464283 AI360770 AA605127 AU123518 Z39124 
    BQ220953 AI082776 AI433589 AF263744 AI150710 AA903608 BI260769 AI683875 
    NM_018695 AL138392 AA547935 AW512402 AA055080 BG612889 AB033051 AL138393 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ERBB2IP    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b · 21c ^ 22 ^ 23 ^
    SP1:                                                                                                                                                  -         
    SP2:                                                                                                                                                  -     -   
    SP3:                                                                                                                                                  -     -   
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 24 ^ 25 ^ 26a · 26b ^ 27a · 27b · 27c
    SP1:              -                           
    SP2:              -                           
    SP3:  -           -                           
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for ERBB2IP

    (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)
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    ERBB2IP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTATTTGGA
    ERBB2IP Expression
    About this image


    ERBB2IP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Neural Tube (Nervous System)
             Telencephalon
    ERBB2IP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ERBB2IP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591774

    UniProtKB/Swiss-Prot: LAP2_HUMAN, Q96RT1
    Tissue specificity: Highly expressed in brain, heart, kidney, muscle and stomach, followed by liver, spleen and
    intestine

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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ERBB2IP gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Erbb2ip1 , 5 Erbb2 interacting protein1, 5 88.98(n)1
    90.35(a)1
      13 (56.16 cM)5
    590791  NM_001005868.11  NP_001005868.11 
     1038187875 
    chicken
    (Gallus gallus)
    Aves ERBB2IP1 erbb2 interacting protein 78.62(n)
    80.19(a)
      431583  XM_004937291.1  XP_004937348.1 
    lizard
    (Anolis carolinensis)
    Reptilia ERBB2IP6
    erbb2 interacting protein
    76(a)
    1 ↔ 1
    2(10932915-11013904)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480296692   -- 79.19(n)    48029669 
    zebrafish
    (Danio rerio)
    Actinopterygii erbb2ip1 erbb2 interacting protein 63(n)
    66.36(a)
      566811  NM_001193543.1  NP_001180472.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Lap13 RAS interactor 40(a)   51D4   --


    ENSEMBL Gene Tree for ERBB2IP (if available)
    TreeFam Gene Tree for ERBB2IP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ERBB2IP gene
    LRRC8E2  LRRC72  RSU12  LRRC8A2  MFHAS12  LRRC12  LRRIQ42  SCRIB2  
    SHOC22  LRRD12  LRRC8D2  LRRC8B2  LRRC8C2  LRRC402  
    10 SIMAP similar genes for ERBB2IP using alignment to 5 protein entries:     LAP2_HUMAN (see all proteins):
    LRRD1    LRRC1    LRRC7    TJP2    LRRC8B    RSU1
    LRIG3    TAX1BP3    DLG4    LRRC28

    ERBB2IP for paralogs           About GeneDecksing



    (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)
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    Selected SNPs for ERBB2IP (see all 3386)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs342269051,2
    C--62178321(+) AAAAA-/A/AA  
     
    /AAAAAA
    GGTCT
    12 -- us2k1 cds12NA 4
    rs737625091,2
    C,F--65139602(+) ATAACC/GTAACA 6 -- us2k12Minor allele frequency- G:0.20WA 120
    rs1846763701,2
    --65139616(+) GTATTA/CATTCC 6 -- us2k10--------
    rs743638041,2
    C,F--65139672(+) GACTTG/CAATAT 6 -- us2k13Minor allele frequency- C:0.21WA CSA 122
    rs423211,2
    C,F,A,H--65139682(+) TCTTCA/GGCGTT 6 -- us2k129Minor allele frequency- G:0.37EA NS NA WA CSA 4026
    rs1452202111,2
    C--65139773(+) AAGCC-/AAAAAAA 6 -- us2k10--------
    rs1880541121,2
    --65139855(+) ATACAA/GACGGA 6 -- us2k10--------
    rs752869411,2
    C,F--65139872(+) GAACCA/GGGGAC 6 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1456404761,2
    --65140047(+) TATGGC/TTGAGG 6 -- us2k10--------
    rs1423277261,2
    --65140104(+) CCGCAA/GTAAAC 6 -- us2k10--------

    HapMap Linkage Disequilibrium report for ERBB2IP (65222303 - 65378377 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ERBB2IP (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2472252CNV Deletion19546169
    esv1036921CNV Deletion17803354
    esv2730278CNV Deletion23290073
    esv2411305CNV Deletion18987734
    esv2662265CNV Deletion23128226
    esv2151663CNV Deletion18987734
    esv4869CNV Deletion18987735
    esv1010663CNV Deletion20482838
    esv2381441CNV Deletion18987734
    esv7534CNV Loss19470904

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606944    OMIM disorders: --

    9 diseases for ERBB2IP:    
    About MalaCards
    epidermolysis bullosa dystrophica    arteriovenous malformation    epidermolysis bullosa    bullous pemphigoid
    crohn's disease    cervical cancer    cystic fibrosis    cervicitis
    breast cancer


    ERBB2IP for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for ERBB2IP gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 7 19289088 (2), 17164780 (2), 16595147 (1)

    Genetic Association Database (GAD): ERBB2IP
    Human Genome Epidemiology (HuGE) Navigator: ERBB2IP (1 document)

    Export disorders for ERBB2IP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ERBB2IP gene, integrated from 10 sources (see all 89):
    (articles sorted by number of sources associating them with ERBB2IP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ERBIN: a basolateral PDZ protein that interacts with the mammalian ERBB2/HER2 receptor. (PubMed id 10878805)1, 2, 3, 9 Borg J.-P....Birnbaum D. (Nat. Cell Biol. 2000)
    2. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10574462)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1999)
    3. The hemidesmosomal protein bullous pemphigoid antigen 1 and the integrin beta 4 subunit bind to ERBIN. Molecular cloning of multiple alternative splice variants of ERBIN and analysis of their tissue expression. (PubMed id 11375975)1, 2, 9 Favre B.... Borradori L. (J. Biol. Chem. 2001)
    4. The Erbin PDZ domain binds with high affinity and specificity to the carboxyl termini of delta-catenin and ARVCF. (PubMed id 11821434)1, 2, 9 Laura R.P.... Lasky L.A. (J. Biol. Chem. 2002)
    5. Origins of PDZ domain ligand specificity. Structure determination and mutagenesis of the Erbin PDZ domain. (PubMed id 12446668)1, 2, 9 Skelton N.J.... Sidhu S.S. (J. Biol. Chem. 2003)
    6. Comparative structural analysis of the erbin PDZ domain and the first PDZ domain of ZO-1. Insights into determinants of PDZ domain specificity. (PubMed id 16737969)1, 2, 9 Appleton B.A.... Wiesmann C. (J. Biol. Chem. 2006)
    7. Novel mode of ligand recognition by the Erbin PDZ domain. (PubMed id 12444095)1, 2, 9 Birrane G.... Ladias J.A. (J. Biol. Chem. 2003)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    10. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55914 HGNC: 15842 AceView: ERBB2IP Ensembl:ENSG00000112851 euGenes: HUgn55914
    ECgene: ERBB2IP Kegg: 55914 H-InvDB: ERBB2IP

    (According to HUGE)
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    HUGE: KIAA1225

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ERBB2IP Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ERBB2IP Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ERBB2IP gene:
    Search GeneIP for patents involving ERBB2IP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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