Gene Gene information from NCBI Gene database.
Entrez ID 2065
Gene name Erb-b2 receptor tyrosine kinase 3
Gene symbol ERBB3
Synonyms (NCBI Gene)
ErbB-3FERLKHER3LCCS2MDA-BF-1VSCN1c-erbB-3c-erbB3erbB3-Sp180-ErbB3p45-sErbB3p85-sErbB3
Chromosome 12
Chromosome location 12q13.2
Summary 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.
9
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.
593
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 assayNorthern blotqRT-PCRWestern blot 17110380
MIRT005117 hsa-miR-125a-5p Luciferase reporter assayNorthern blotqRT-PCRWestern blot 17110380
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
AR Activation 21741601
TWIST1 Repression 19051271
TWIST2 Repression 19051271
YBX1 Activation 19648825
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
75
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
190151 3431 ENSG00000065361
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
57
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ERBB3-related disorder Likely pathogenic rs771935902, rs2540758459 RCV003410370
RCV003405841
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lethal congenital contracture syndrome 2 Likely pathogenic rs1565859132, rs762129530, rs141230043 RCV000013400
RCV003388436
RCV001257435
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder Pathogenic rs146486757, rs2136822757, rs2540742315, rs1057519893 RCV003332947
RCV003332948
RCV003332988
RCV003332171
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm Pathogenic rs1057519893 RCV004668943
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acoustic Neuroma Acoustic Neuroma BEFREE 16432850, 18199957, 22222570
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 12021921, 15150091, 23958847, 31607147
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 10782893, 12618754, 17266032, 17631905, 25019985
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17631905
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 24151090, 26844548
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 10782893
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 15688028, 18404164, 21387307, 24419753, 25501131, 25596284, 26824984, 29366790, 29473311, 31357969
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 20647770
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 8669836
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 19401448, 26367378
★☆☆☆☆
Found in Text Mining only