Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2065
Gene name Gene Name - the full gene name approved by the HGNC.
Erb-b2 receptor tyrosine kinase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ERBB3
Synonyms (NCBI Gene) Gene synonyms aliases
ErbB-3, FERLK, HER3, LCCS2, MDA-BF-1, VSCN1, c-erbB-3, c-erbB3, erbB3-S, p180-ErbB3, p45-sErbB3, p85-sErbB3
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.2
Summary Summary of gene provided in NCBI Entrez 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 th
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs755855285 G>A Likely-pathogenic Missense variant, genic downstream transcript variant, coding sequence variant
rs931676601 A>G,T Likely-pathogenic Genic downstream transcript variant, coding sequence variant, missense variant
rs1057519169 G>A Likely-pathogenic Splice donor variant, genic downstream transcript variant
rs1057519803 G>A Likely-pathogenic Missense variant, coding sequence variant, genic downstream transcript variant
rs1057519817 C>A,G Likely-pathogenic Missense variant, coding sequence variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003659 hsa-miR-205-5p Luciferase reporter assay 19238171
MIRT003659 hsa-miR-205-5p Review 20026422
MIRT003659 hsa-miR-205-5p Luciferase reporter assay 20065103
MIRT005117 hsa-miR-125a-5p Luciferase reporter assay, Northern blot, qRT-PCR, Western blot 17110380
MIRT005117 hsa-miR-125a-5p Luciferase reporter assay, Northern blot, qRT-PCR, Western blot 17110380
Transcription factors
Transcription factor Regulation Reference
AR Activation 21741601
TWIST1 Repression 19051271
TWIST2 Repression 19051271
YBX1 Activation 19648825
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003197 Process Endocardial cushion development IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004713 Function Protein tyrosine kinase activity IDA 7556068
GO:0004888 Function Transmembrane signaling receptor activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
190151 3431 ENSG00000065361
Protein
UniProt ID P21860
Protein name Receptor tyrosine-protein kinase erbB-3 (EC 2.7.10.1) (Proto-oncogene-like protein c-ErbB-3) (Tyrosine kinase-type cell surface receptor HER3)
Protein 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 t
PDB 1M6B , 2L9U , 3KEX , 3LMG , 3P11 , 4LEO , 4P59 , 4RIW , 4RIX , 4RIY , 5CUS , 5O4O , 5O7P , 6KBI , 6OP9 , 7BHE , 7BHF , 7D85 , 7MN5 , 7MN6 , 7MN8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01030 Recep_L_domain 55 167 Receptor L domain Repeat
PF00757 Furin-like 169 332 Furin-like cysteine rich region Domain
PF01030 Recep_L_domain 353 474 Receptor L domain Repeat
PF14843 GF_recep_IV 499 630 Growth factor receptor domain IV Domain
PF07714 PK_Tyr_Ser-Thr 709 965 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Epithelial tissues and brain.
Sequence
MRANDALQVLGLLFSLARGSEVGNSQAVCPGTLNGLSVTGDAENQYQTLYKLYERCEVVM
GNLEIVLTGHNADLSFLQWIREVTGYVLVAMNEFSTLPLPNLRVVRGTQVYDGKFAIFVM
LNYNTNSSHALRQLRLTQLTEILSGGVYIEKNDKLCHMDTIDWRDIV
RDRDAEIVVKDNG
RSCPPCHEVCKGRCWGPGSEDCQTLTKTICAPQCNGHCFGPNPNQCCHDECAGGCSGPQD
TDCFACRHFNDSGACVPRCPQPLVYNKLTFQLEPNPHTKYQYGGVCVASCPHNFVVDQTS
CVRACPPDKMEVDKNGLKMCEPCGGLCPKACE
GTGSGSRFQTVDSSNIDGFVNCTKILGN
LDFLITGLNGDPWHKIPALDPEKLNVFRTVREITGYLNIQSWPPHMHNFSVFSNLTTIGG
RSLYNRGFSLLIMKNLNVTSLGFRSLKEISAGRIYISANRQLCYHHSLNWTKVL
RGPTEE
RLDIKHNRPRRDCVAEGKVCDPLCSSGGCWGPGPGQCLSCRNYSRGGVCVTHCNFLNGEP
REFAHEAECFSCHPECQPMEGTATCNGSGSDTCAQCAHFRDGPHCVSSCPHGVLGAKGPI
YKYPDVQNECRPCHENCTQGCKGPELQDCL
GQTLVLIGKTHLTMALTVIAGLVVIFMMLG
GTFLYWRGRRIQNKRAMRRYLERGESIEPLDPSEKANKVLARIFKETELRKLKVLGSGVF
GTVHKGVWIPEGESIKIPVCIKVIEDKSGRQSFQAVTDHMLAIGSLDHAHIVRLLGLCPG
SSLQLVTQYLPLGSLLDHVRQHRGALGPQLLLNWGVQIAKGMYYLEEHGMVHRNLAARNV
LLKSPSQVQVADFGVADLLPPDDKQLLYSEAKTPIKWMALESIHFGKYTHQSDVWSYGVT
VWELMTFGAEPYAGLRLAEVPDLLEKGERLAQPQICTIDVYMVMVKCWMIDENIRPTFKE
LANEF
TRMARDPPRYLVIKRESGPGIAPGPEPHGLTNKKLEEVELEPELDLDLDLEAEED
NLATTTLGSALSLPVGTLNRPRGSQSLLSPSSGYMPMNQGNLGESCQESAVSGSSERCPR
PVSLHPMPRGCLASESSEGHVTGSEAELQEKVSMCRSRSRSRSPRPRGDSAYHSQRHSLL
TPVTPLSPPGLEEEDVNGYVMPDTHLKGTPSSREGTLSSVGLSSVLGTEEEDEDEEYEYM
NRRRRHSPPHPPRPSSLEELGYEYMDVGSDLSASLGSTQSCPLHPVPIMPTAGTTPDEDY
EYMNRQRDGGGPGGDYAAMGACPASEQGYEEMRAFQGPGHQAPHVHYARLKTLRSLEATD
SAFDNPDYWHSRLFPKANAQRT
Sequence length 1342
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  EGFR tyrosine kinase inhibitor resistance
MAPK signaling pathway
ErbB signaling pathway
Calcium signaling pathway
PI3K-Akt signaling pathway
Proteoglycans in cancer
MicroRNAs in cancer
  Signaling by ERBB2
Signaling by ERBB4
SHC1 events in ERBB2 signaling
PIP3 activates AKT signaling
GRB7 events in ERBB2 signaling
Downregulation of ERBB2:ERBB3 signaling
PI3K events in ERBB2 signaling
Constitutive Signaling by Aberrant PI3K in Cancer
RAF/MAP kinase cascade
ERBB2 Regulates Cell Motility
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
ERBB2 Activates PTK6 Signaling
Downregulation of ERBB2 signaling
Signaling by ERBB2 KD Mutants
Signaling by ERBB2 TMD/JMD mutants
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Lethal Congenital Contracture Syndrome lethal congenital contracture syndrome 2 rs1565859132 N/A
neoplasm Neoplasm rs1057519893 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alopecia Areata Alopecia areata N/A N/A GWAS
Alzheimer disease Alzheimer's disease or gastroesophageal reflux disease N/A N/A GWAS
Anorexia Anorexia nervosa N/A N/A GWAS
Asthma Age of onset of adult onset asthma, Asthma, Asthma (adult onset), Asthma (moderate or severe) N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Stimulate 10686540
Adenocarcinoma Associate 24151090, 27070783, 35581263
Adenocarcinoma Mucinous Associate 32641744
Adenocarcinoma of Lung Associate 26254096, 26824984, 29473311, 29858224
Aicardi Syndrome Associate 26011570
Amblyopia Associate 31752936
Anemia Associate 31752936
Arthritis Rheumatoid Associate 19956108
Asthma Associate 32700739
Astrocytoma Associate 19017278