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ERBB3 Gene(Protein Coding)

Erb-B2 Receptor Tyrosine Kinase 3

GCID:
GC12P056079
GIFtS:
60
Genes Participants
UDN Logo

Aliases for ERBB3 Gene

Aliases for ERBB3 Gene

  • Erb-B2 Receptor Tyrosine Kinase 3 2 3 5
  • V-Erb-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 3 2 3
  • Tyrosine Kinase-Type Cell Surface Receptor HER3 3 4
  • Human Epidermal Growth Factor Receptor 3 2 3
  • Proto-Oncogene-Like Protein C-ErbB-3 3 4
  • HER3 3 4
  • Lethal Congenital Contracture Syndrome 2 2
  • Receptor Tyrosine-Protein Kinase ErbB-3 3
  • EC 2.7.10.1 4
  • P180-ErbB3 3
  • P45-SErbB3 3
  • P85-SErbB3 3
  • MDA-BF-1 3
  • C-ErbB-3 3
  • C-ErbB3 3
  • ErbB3-S 3
  • ErbB-3 3
  • LCCS2 3

External Ids for ERBB3 Gene

Previous HGNC Symbols for ERBB3 Gene

  • LCCS2

Previous GeneCards Identifiers for ERBB3 Gene

  • GC12M056386
  • GC12M056841
  • GC12P056190
  • GC12P054760
  • GC12P056473
  • GC12P053512

Summaries for ERBB3 Gene

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]

CIViC summary for ERBB3 Gene

GeneCards Summary for ERBB3 Gene

ERBB3 (Erb-B2 Receptor Tyrosine Kinase 3) is a Protein Coding gene. Diseases associated with ERBB3 include Lethal Congenital Contracture Syndrome 2 and Retroperitoneal Leiomyosarcoma. Among its related pathways are ERK Signaling and Akt Signaling. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and transferase activity, transferring phosphorus-containing groups. An important paralog of this gene is ERBB4.

UniProtKB/Swiss-Prot for ERBB3 Gene

  • Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins. Binds to neuregulin-1 (NRG1) and is activated by it; ligand-binding increases phosphorylation on tyrosine residues and promotes its association with the p85 subunit of phosphatidylinositol 3-kinase (PubMed:20682778). May also be activated by CSPG5 (PubMed:15358134).

Tocris 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 drives many cellular responses.

Gene Wiki entry for ERBB3 Gene

Additional gene information for ERBB3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERBB3 Gene

Genomics for ERBB3 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ERBB3 Gene

Promoters and enhancers for ERBB3 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH12J056078 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 653.3 +4.5 4496 6.1 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC SSRP1 ZNF610 ERBB3 DNAJC14 SUOX BAZ2A ANKRD52 RAB5B PAN2 ZBTB39 IKZF4 PHC1P1
GH12J056102 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.3 +28.0 27985 5.4 MLX DMAP1 YY1 SLC30A9 E2F8 ZNF416 ZNF143 SP3 NFYC MEF2D GC12M056105 LOC105369782 PA2G4 ERBB3 BAZ2A NEMP1 DNAJC14 ENSG00000257740 SMARCC2 ZC3H10
GH12J056045 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.3 -30.3 -30297 2.8 HDGF ATF1 ARID4B ZNF2 GTF3C2 ZNF143 ATF7 RUNX3 NCOA1 REST PA2G4 RPL41 ZC3H10 BAZ2A PYM1 PMEL PAN2 RN7SL809P DNAJC14 GDF11
GH12J055982 Enhancer 0.8 Ensembl ENCODE 10.5 -94.0 -94023 0.9 SMARCA5 MAX ZMYM3 EBF1 ZNF121 POLR2A IKZF1 NFE2 MYC BCLAF1 LOC100131294 IKZF4 CD63 GDF11 PMEL ERBB3 PA2G4 ZC3H10 RPL41 SARNP
GH12J055983 Enhancer 0.6 ENCODE 10.5 -93.2 -93207 0.2 ZNF316 MAFF IKZF1 MAFG HMBOX1 NFE2 EMSY MAFK IKZF4 ERBB3 LOC100131294 GC12P055992 RAB5B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ERBB3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ERBB3 gene promoter:
  • AP-2alpha isoform 2
  • AP-2alpha
  • AP-2alphaA
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4

Genomic Locations for ERBB3 Gene

Genomic Locations for ERBB3 Gene
chr12:56,076,799-56,103,507
(GRCh38/hg38)
Size:
26,709 bases
Orientation:
Plus strand
chr12:56,473,641-56,497,291
(GRCh37/hg19)
Size:
23,651 bases
Orientation:
Plus strand

Genomic View for ERBB3 Gene

Genes around ERBB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERBB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERBB3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ERBB3 Gene

Proteins for ERBB3 Gene

Products:

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  2. Protein
  3. Assay

  • Protein details for ERBB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21860-ERBB3_HUMAN
    Recommended name:
    Receptor tyrosine-protein kinase erbB-3
    Protein Accession:
    P21860
    Secondary Accessions:
    • A8K6L6
    • B4DIK7
    • B4DV32
    • E9PDT8
    • Q9BUD7

    Protein attributes for ERBB3 Gene

    Size:
    1342 amino acids
    Molecular mass:
    148098 Da
    Quaternary structure:
    • Monomer and homodimer. Heterodimer with each of the other ERBB receptors (Potential). Interacts with CSPG5 (PubMed:15358134). Interacts with GRB7 (PubMed:9516479). Interacts with MUC1 (PubMed:12939402). Interacts with MYOC (By similarity). Interacts with isoform 2 of PA2G4 (PubMed:11325528, PubMed:16832058). Found in a ternary complex with NRG1 and ITGAV:ITGB3 or ITGA6:ITGB4 (PubMed:20682778).

    Three dimensional structures from OCA and Proteopedia for ERBB3 Gene

    Alternative splice isoforms for ERBB3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERBB3 Gene

Protein Expression for ERBB3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ERBB3 Gene

  • Autophosphorylated (PubMed:20351256). Ligand-binding increases phosphorylation on tyrosine residues and promotes its association with the p85 subunit of phosphatidylinositol 3-kinase (PubMed:20682778).
  • Glycosylation at isoforms=4616, isoforms=4566, Asn522, isoforms=4469, Asn437, isoforms=4414, isoforms=4408, isoforms=4353, Asn250, and Asn126
  • Modification sites at PhosphoSitePlus

Other Protein References for ERBB3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for ERBB3

No data available for DME Specific Peptides for ERBB3 Gene

Domains & Families for ERBB3 Gene

Gene Families for ERBB3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for ERBB3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ERBB3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P21860

UniProtKB/Swiss-Prot:

ERBB3_HUMAN :
  • The cytoplasmic part of the receptor may interact with the SH2 or SH3 domains of many signal-transducing proteins.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily.
Domain:
  • The cytoplasmic part of the receptor may interact with the SH2 or SH3 domains of many signal-transducing proteins.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily.
genes like me logo Genes that share domains with ERBB3: view

Function for ERBB3 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ERBB3 Gene

UniProtKB/Swiss-Prot Function:
Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins. Binds to neuregulin-1 (NRG1) and is activated by it; ligand-binding increases phosphorylation on tyrosine residues and promotes its association with the p85 subunit of phosphatidylinositol 3-kinase (PubMed:20682778). May also be activated by CSPG5 (PubMed:15358134).
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
GENATLAS Biochemistry:
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) for ERBB3 Gene

Phenotypes From GWAS Catalog for ERBB3 Gene

Gene Ontology (GO) - Molecular Function for ERBB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004709 MAP kinase kinase kinase activity IBA --
GO:0004713 protein tyrosine kinase activity IEA,TAS --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IEA,IBA --
genes like me logo Genes that share ontologies with ERBB3: view
genes like me logo Genes that share phenotypes with ERBB3: view

Human Phenotype Ontology for ERBB3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ERBB3 Gene

MGI Knock Outs for ERBB3:

Animal Model Products

Clone Products

  • Addgene plasmids for ERBB3

No data available for Transcription Factor Targets and HOMER Transcription for ERBB3 Gene

Localization for ERBB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERBB3 Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERBB3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 3
nucleus 2
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Actin filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ERBB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 11389077
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IBA --
GO:0005886 plasma membrane TAS 17701904
genes like me logo Genes that share ontologies with ERBB3: view

Pathways & Interactions for ERBB3 Gene

SuperPathways for ERBB3 Gene

PathCards logo More details on SuperPathways for ERBB3
SuperPathway Contained pathways
1 RET signaling
Frs2-mediated activation
.95
GRB2 events in EGFR signaling
.95
MAPK1/MAPK3 signaling
.95
Prolonged ERK activation events
.95
RAF/MAP kinase cascade
.95
SHC1 events in EGFR signaling
.95
Signaling by Leptin
.95
SOS-mediated signalling
.95
VEGFR2 mediated cell proliferation
.95
ARMS-mediated activation
.95
Signalling to ERKs
.95
Signalling to p38 via RIT and RIN
.95
Signalling to RAS
.95
Interleukin receptor SHC signaling
.95
Interleukin-3, 5 and GM-CSF signaling
.94
Interleukin-2 signaling
.94
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
RET signaling
.92
Insulin receptor signalling cascade
.92
Signaling by Insulin receptor
.92
IRS-mediated signalling
.91
Signaling by EGFR
.90
FCERI mediated MAPK activation
.90
IGF1R signaling cascade
.90
IRS-related events triggered by IGF1R
.90
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
.90
DAP12 interactions
.89
NCAM signaling for neurite out-growth
.89
NGF signalling via TRKA from the plasma membrane
.87
MAPK family signaling cascades
.87
Signaling by SCF-KIT
.85
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
Gastrin-CREB signalling pathway via PKC and MAPK
.55
2 GPCR Pathway
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
P2Y Receptor Signaling
.38
3 PI3K/AKT activation
Negative regulation of the PI3K/AKT network
.93
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
.93
PIP3 activates AKT signaling
.91
Role of LAT2/NTAL/LAB on calcium mobilization
.91
GAB1 signalosome
.89
PI3K/AKT activation
.89
Constitutive Signaling by Aberrant PI3K in Cancer
.75
PI3K/AKT Signaling in Cancer
.72
4 Signaling by ERBB2
Downregulation of ERBB2 signaling
.59
Signaling by ERBB2
.59
SHC1 events in ERBB2 signaling
.43
Downregulation of ERBB2-ERBB3 signaling
.01
ERBB2 Activates PTK6 Signaling
.01
ERBB2 Regulates Cell Motility
.01
GRB7 events in ERBB2 signaling
.01
PI3K events in ERBB2 signaling
.01
5 ERK Signaling
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
genes like me logo Genes that share pathways with ERBB3: view

Interacting Proteins for ERBB3 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000267101%0d%0a9606.ENSP00000295400%0d%0a9606.ENSP00000386896%0d%0a9606.ENSP00000340742%0d%0a9606.ENSP00000353483%0d%0a9606.ENSP00000361214%0d%0a
Selected Interacting proteins: P21860-ERBB3_HUMAN ENSP00000267101 for ERBB3 Gene via MINT STRING UniProtKB IID

Symbol External ID(s) Details
PIK3R2
PIK3R3
ABL2
GRB7
RASA1
GPS-Prot Interaction Network for ERBB3

SIGNOR curated interactions for ERBB3 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ERBB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0003197 endocardial cushion development IEA --
GO:0006468 protein phosphorylation IEA --
GO:0007162 negative regulation of cell adhesion IDA 7556068
GO:0007165 signal transduction IDA 10572067
genes like me logo Genes that share ontologies with ERBB3: view

Drugs & Compounds for ERBB3 Gene

Products:

  1. Drug

(56) Drugs for ERBB3 Gene - From: ClinicalTrials, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gefitinib Approved, Investigational Pharma Biomarker, inhibitor EGFR Inhibitors, Kinase Inhibitors, Epidermal growth factor receptor (EGFR) inhibitors 374
Poziotinib Investigational Pharma inhibitor irreversible pan-HER inhibitor 0
Genistein Investigational Pharma Potentiation, Activator, Agonist AR agonist, EGFR kinase inhibitor. Also estrogen and PPARgamma ligand 58
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0
Momelotinib Investigational Pharma Inhibitor Epidermal growth factor receptor (EGFR) inhibitors 0

(18) Additional Compounds for ERBB3 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
AG 490
133550-30-8
CP 724714
383432-38-0

(4) Tocris Compounds for ERBB3 Gene

Compound Action Cas Number
AG 490 EGFR-kinase inhibitor. Also JAK2, JAK3 inhibitor 133550-30-8
CGP 52411 EGFR inhibitor. Also inhibits Abeta42 fibril formation 145915-58-8
CP 724714 Potent and selective ErbB2 inhibitor 383432-38-0
Genistein EGFR kinase inhibitor. Also estrogen and PPARgamma ligand 446-72-0

(3) ApexBio Compounds for ERBB3 Gene

Compound Action Cas Number
AZD8931 (Sapitinib) ErbB inhibitor 848942-61-0
Poziotinib irreversible pan-HER inhibitor 1092364-38-9
Varlitinib (ARRY334543) ErbB inhibitor 845272-21-1
genes like me logo Genes that share compounds with ERBB3: view

Drug Products

Transcripts for ERBB3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ERBB3 Gene

(2) REFSEQ mRNAs :
(18) Additional mRNA sequences :
(234) Selected AceView cDNA sequences:
(23) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ERBB3 Gene

V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian):
Representative Sequences:

Clone Products

  • Addgene plasmids for ERBB3

Alternative Splicing Database (ASD) splice patterns (SP) for ERBB3 Gene

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:
SP6:
SP7:
SP8: -
SP9:
SP10: -
SP11:
SP12:

ExUns: 18 ^ 19a · 19b · 19c ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29
SP1: - - -
SP2: - - - - - - -
SP3: - -
SP4: - - - - - - - - - - - - - - -
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:

Relevant External Links for ERBB3 Gene

GeneLoc Exon Structure for
ERBB3
ECgene alternative splicing isoforms for
ERBB3

Expression for ERBB3 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ERBB3 Gene

mRNA expression in normal human tissues for ERBB3 Gene
mRNA expression by GTEx for ERBB3 GenemRNA expression by BioGPS for ERBB3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ERBB3 Gene

This gene is overexpressed in Testis (26.0), Lung (22.4), Saliva (8.7), and Pancreas (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ERBB3 Gene



Protein tissue co-expression partners for ERBB3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ERBB3 Gene:

ERBB3

SOURCE GeneReport for Unigene cluster for ERBB3 Gene:

Hs.118681

mRNA Expression by UniProt/SwissProt for ERBB3 Gene:

P21860-ERBB3_HUMAN
Tissue specificity: Epithelial tissues and brain.

Evidence on tissue expression from TISSUES for ERBB3 Gene

  • Nervous system(4.9)
  • Intestine(4.8)
  • Skin(4.6)
  • Liver(4.5)
  • Lung(2.9)
  • Stomach(2.4)
  • Kidney(2.3)
  • Pancreas(2.2)
  • Lymph node(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ERBB3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
Thorax:
  • lung
Abdomen:
  • kidney
Pelvis:
  • placenta
  • ureter
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood vessel
  • peripheral nervous system
genes like me logo Genes that share expression patterns with ERBB3: view

No data available for mRNA differential expression in normal tissues for ERBB3 Gene

Orthologs for ERBB3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ERBB3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ERBB3 33
  • 99.75 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 91 (a)
 OneToMany
-- 34
  • 85 (a)
 OneToMany
dog
(Canis familiaris)
 Mammalia ERBB3 34 33
  • 90.76 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia ERBB3 34 33
  • 90.34 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Erbb3 33
  • 87.3 (n)
oppossum
(Monodelphis domestica)
 Mammalia ERBB3 34
  • 87 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Erbb3 16 34 33
  • 86.97 (n)
chicken
(Gallus gallus)
 Aves ERBB3 33
  • 68.6 (n)
lizard
(Anolis carolinensis)
 Reptilia ERBB3 34
  • 67 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia erbb3 33
  • 62.24 (n)
zebrafish
(Danio rerio)
 Actinopterygii erbb3a 34
  • 50 (a)
 OneToMany
erbb3b 34
  • 49 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta Egfr 35
  • 39 (a)
worm
(Caenorhabditis elegans)
 Secernentea let-23 35
  • 28 (a)
Species where no ortholog for ERBB3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ERBB3 Gene

ENSEMBL:
Gene Tree for ERBB3 (if available)
TreeFam:
Gene Tree for ERBB3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ERBB3: view image

Paralogs for ERBB3 Gene

Paralogs for ERBB3 Gene

(16) SIMAP similar genes for ERBB3 Gene using alignment to 9 proteins:

  • ERBB3_HUMAN
  • B3KWG5_HUMAN
  • B4DGQ7_HUMAN
  • F8VRI5_HUMAN
  • F8VRL0_HUMAN
  • F8VW48_HUMAN
  • F8VW56_HUMAN
  • F8VX90_HUMAN
  • F8VYK4_HUMAN
genes like me logo Genes that share paralogs with ERBB3: view

Variants for ERBB3 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ERBB3 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1057519803 likely-pathogenic, Colonic Neoplasms, Neoplasm of stomach 56,088,138(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1057519817 likely-pathogenic, Neoplasm 56,088,073(+) C/A/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1057519891 likely-pathogenic, Uterine Carcinosarcoma, Malignant neoplasm of body of uterus, Adenocarcinoma of stomach, Transitional cell carcinoma of the bladder, Neoplasm of the breast 56,088,557(+) G/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1057519892 likely-pathogenic, Transitional cell carcinoma of the bladder, Adenocarcinoma of stomach, Neoplasm of the breast, Uterine Carcinosarcoma, Malignant neoplasm of body of uterus 56,088,558(+) A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1057519893 likely-pathogenic, Adenocarcinoma of stomach, Uterine Carcinosarcoma, Uterine cervical neoplasms, Neoplasm of the breast, Colorectal Neoplasms, Malignant neoplasm of body of uterus, Transitional cell carcinoma of the bladder, Carcinoma of gallbladder 56,085,070(+) G/A/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for ERBB3 Gene

Variant ID Type Subtype PubMed ID
esv1499550 CNV insertion 17803354
esv275479 CNV gain+loss 21479260
nsv1051961 CNV gain 25217958
nsv1120091 OTHER inversion 24896259
nsv1122738 CNV deletion 24896259
nsv832427 CNV loss 17160897

Variation tolerance for ERBB3 Gene

Residual Variation Intolerance Score: 13.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.28; 70.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ERBB3 Gene

Human Gene Mutation Database (HGMD)
ERBB3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERBB3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERBB3 Gene

Disorders for ERBB3 Gene

MalaCards: The human disease database

(27) MalaCards diseases for ERBB3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lethal congenital contracture syndrome 2
  • lccs2
retroperitoneal leiomyosarcoma
ovary transitional cell carcinoma
  • malignant ovarian transitional cell neoplasm
transitional cell carcinoma
  • transitional carcinoma
childhood medulloblastoma
  • pediatric medulloblastoma
- elite association - COSMIC cancer census association via MalaCards
Search ERBB3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ERBB3_HUMAN
  • Lethal congenital contracture syndrome 2 (LCCS2) [MIM:607598]: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non-progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS2 patients manifest craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy and a unique feature of a markedly distended urinary bladder (neurogenic bladder defect). The phenotype suggests a spinal cord neuropathic etiology. {ECO:0000269 PubMed:17701904}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ERBB3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ERBB3: view

No data available for Genatlas for ERBB3 Gene

Publications for ERBB3 Gene