Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2064
Gene name Gene Name - the full gene name approved by the HGNC.
Erb-b2 receptor tyrosine kinase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ERBB2
Synonyms (NCBI Gene) Gene synonyms aliases
CD340, HER-2, HER-2/neu, HER2, MLN 19, MLN-19, NEU, NGL, TKR1, VSCN2, c-ERB-2, c-ERB2, p185(erbB2)
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q12
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-boun
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121913468 G>A,C,T Likely-pathogenic, pathogenic Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs121913469 TT>CC Pathogenic, likely-pathogenic Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs121913470 T>C,G Likely-pathogenic Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs1057519787 G>A,C Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs1057519816 C>A,T Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004318 hsa-miR-21-5p qRT-PCR, Western blot 19419954
MIRT002939 hsa-miR-125b-5p Western blot 19825990
MIRT005118 hsa-miR-125a-5p Luciferase reporter assay, Northern blot, qRT-PCR, Western blot 17110380
MIRT005118 hsa-miR-125a-5p Luciferase reporter assay, Northern blot, qRT-PCR, Western blot 17110380
MIRT002939 hsa-miR-125b-5p Luciferase reporter assay, Northern blot, qRT-PCR, Western blot 17110380
Transcription factors
Transcription factor Regulation Reference
AR Activation 21613411
AR Unknown 21741601
ATF1 Unknown 10698518
ATF7 Unknown 10698518
CREB1 Unknown 10698518
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:0001042 Function RNA polymerase I core binding IDA 21555369
GO:0002116 Component Semaphorin receptor complex IEA
GO:0002116 Component Semaphorin receptor complex ISS
GO:0004672 Function Protein kinase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
164870 3430 ENSG00000141736
Protein
UniProt ID P04626
Protein name Receptor tyrosine-protein kinase erbB-2 (EC 2.7.10.1) (Metastatic lymph node gene 19 protein) (MLN 19) (Proto-oncogene Neu) (Proto-oncogene c-ErbB-2) (Tyrosine kinase-type cell surface receptor HER2) (p185erbB2) (CD antigen CD340)
Protein function Protein tyrosine kinase that is part of several cell surface receptor complexes, but that apparently needs a coreceptor for ligand binding. Essential component of a neuregulin-receptor complex, although neuregulins do not interact with it alone.
PDB 1MFG , 1MFL , 1MW4 , 1N8Z , 1QR1 , 1S78 , 2A91 , 2JWA , 2KS1 , 2L4K , 2N2A , 3BE1 , 3H3B , 3MZW , 3N85 , 3PP0 , 3RCD , 3WLW , 3WSQ , 4GFU , 4HRL , 4HRM , 4HRN , 4NND , 5K33 , 5KWG , 5MY6 , 5O4G , 5OB4 , 5TQS , 6ATT , 6BGT , 6J71 , 6LBX , 6OGE , 7JXH , 7MN5 , 7MN6 , 7MN8 , 7PCD , 7QVK , 8FFJ , 8HGO , 8HGP , 8JYQ , 8JYR , 8PWH , 8Q6J , 8U4K , 8U4L , 8U8X
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01030 Recep_L_domain 52 173 Receptor L domain Repeat
PF00757 Furin-like 183 343 Furin-like cysteine rich region Domain
PF01030 Recep_L_domain 366 486 Receptor L domain Repeat
PF14843 GF_recep_IV 510 643 Growth factor receptor domain IV Domain
PF07714 PK_Tyr_Ser-Thr 720 976 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in a variety of tumor tissues including primary breast tumors and tumors from small bowel, esophagus, kidney and mouth. {ECO:0000269|PubMed:15380516}.
Sequence
MELAALCRWGLLLALLPPGAASTQVCTGTDMKLRLPASPETHLDMLRHLYQGCQVVQGNL
ELTYLPTNASLSFLQDIQEVQGYVLIAHNQVRQVPLQRLRIVRGTQLFEDNYALAVLDNG
DPLNNTTPVTGASPGGLRELQLRSLTEILKGGVLIQRNPQLCYQDTILWKDIF
HKNNQLA
LTLIDTNRSRACHPCSPMCKGSRCWGESSEDCQSLTRTVCAGGCARCKGPLPTDCCHEQC
AAGCTGPKHSDCLACLHFNHSGICELHCPALVTYNTDTFESMPNPEGRYTFGASCVTACP
YNYLSTDVGSCTLVCPLHNQEVTAEDGTQRCEKCSKPCARVCY
GLGMEHLREVRAVTSAN
IQEFAGCKKIFGSLAFLPESFDGDPASNTAPLQPEQLQVFETLEEITGYLYISAWPDSLP
DLSVFQNLQVIRGRILHNGAYSLTLQGLGISWLGLRSLRELGSGLALIHHNTHLCFVHTV
PWDQLF
RNPHQALLHTANRPEDECVGEGLACHQLCARGHCWGPGPTQCVNCSQFLRGQEC
VEECRVLQGLPREYVNARHCLPCHPECQPQNGSVTCFGPEADQCVACAHYKDPPFCVARC
PSGVKPDLSYMPIWKFPDEEGACQPCPINCTHSCVDLDDKGCP
AEQRASPLTSIISAVVG
ILLVVVLGVVFGILIKRRQQKIRKYTMRRLLQETELVEPLTPSGAMPNQAQMRILKETEL
RKVKVLGSGAFGTVYKGIWIPDGENVKIPVAIKVLRENTSPKANKEILDEAYVMAGVGSP
YVSRLLGICLTSTVQLVTQLMPYGCLLDHVRENRGRLGSQDLLNWCMQIAKGMSYLEDVR
LVHRDLAARNVLVKSPNHVKITDFGLARLLDIDETEYHADGGKVPIKWMALESILRRRFT
HQSDVWSYGVTVWELMTFGAKPYDGIPAREIPDLLEKGERLPQPPICTIDVYMIMVKCWM
IDSECRPRFRELVSEF
SRMARDPQRFVVIQNEDLGPASPLDSTFYRSLLEDDDMGDLVDA
EEYLVPQQGFFCPDPAPGAGGMVHHRHRSSSTRSGGGDLTLGLEPSEEEAPRSPLAPSEG
AGSDVFDGDLGMGAAKGLQSLPTHDPSPLQRYSEDPTVPLPSETDGYVAPLTCSPQPEYV
NQPDVRPQPPSPREGPLPAARPAGATLERPKTLSPGKNGVVKDVFAFGGAVENPEYLTPQ
GGAAPQPHPPPAFSPAFDNLYYWDQDPPERGAPPSTFKGTPTAENPEYLGLDVPV
Sequence length 1255
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  EGFR tyrosine kinase inhibitor resistance
Endocrine resistance
Platinum drug resistance
MAPK signaling pathway
ErbB signaling pathway
Calcium signaling pathway
HIF-1 signaling pathway
PI3K-Akt signaling pathway
Focal adhesion
Adherens junction
Tight junction
Pathways in cancer
Proteoglycans in cancer
MicroRNAs in cancer
Pancreatic cancer
Endometrial cancer
Prostate cancer
Bladder cancer
Non-small cell lung cancer
Breast cancer
Gastric cancer
Central carbon metabolism in cancer
  Signaling by ERBB2
SHC1 events in ERBB2 signaling
PIP3 activates AKT signaling
GRB7 events in ERBB2 signaling
Downregulation of ERBB2:ERBB3 signaling
GRB2 events in ERBB2 signaling
PI3K events in ERBB2 signaling
Constitutive Signaling by Aberrant PI3K in Cancer
Sema4D induced cell migration and growth-cone collapse
RAF/MAP kinase cascade
ERBB2 Regulates Cell Motility
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
ERBB2 Activates PTK6 Signaling
Downregulation of ERBB2 signaling
TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
Constitutive Signaling by Overexpressed ERBB2
Drug-mediated inhibition of ERBB2 signaling
Signaling by ERBB2 KD Mutants
Resistance of ERBB2 KD mutants to trastuzumab
Resistance of ERBB2 KD mutants to sapitinib
Resistance of ERBB2 KD mutants to tesevatinib
Resistance of ERBB2 KD mutants to neratinib
Resistance of ERBB2 KD mutants to osimertinib
Resistance of ERBB2 KD mutants to afatinib
Resistance of ERBB2 KD mutants to AEE788
Resistance of ERBB2 KD mutants to lapatinib
Signaling by ERBB2 ECD mutants
Signaling by ERBB2 TMD/JMD mutants
Drug resistance in 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
Glioma Glioma susceptibility 1 rs28933368 N/A
neoplasm Neoplasm rs397516981 N/A
gastric cancer Gastric cancer rs28933369 N/A
lung adenocarcinoma Lung adenocarcinoma rs397516975, rs397516981, rs587776805, rs121913469, rs1131692237, rs397516977 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
Asthma Asthma N/A N/A GWAS
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Endometrial carcinoma endometrial carcinoma N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
5 alpha Fluorouracil toxicity Associate 22351696
Aberrant Crypt Foci Associate 29222172
Acquired ichthyosis Associate 36303457
Adenocarcinoma Associate 10686540, 12365012, 1398227, 15167937, 15668283, 15870067, 16189154, 16731604, 16863509, 1687493, 16963452, 17143264, 17575133, 19055823, 19292734
View all (102 more)
Adenocarcinoma Stimulate 11406641, 14645692, 29725274, 29802704, 29866946, 36617420, 37340403, 8097369
Adenocarcinoma Bronchiolo Alveolar Associate 15167937, 16189154, 20521350
Adenocarcinoma Mucinous Associate 15960065, 20003286, 22317764, 23078675, 25120802, 25338994, 25986173
Adenocarcinoma Mucinous Inhibit 19479974, 23768133, 32781417
Adenocarcinoma Mucinous Stimulate 24705517, 32813918
Adenocarcinoma Of Esophagus Associate 17143264, 7794072