Gene Gene information from NCBI Gene database.
Entrez ID 2064
Gene name Erb-b2 receptor tyrosine kinase 2
Gene symbol ERBB2
Synonyms (NCBI Gene)
CD340HER-2HER-2/neuHER2MLN 19MLN-19NEUNGLTKR1VSCN2c-ERB-2c-ERB2p185(erbB2)
Chromosome 17
Chromosome location 17q12
Summary 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.
8
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.
349
miRTarBase ID miRNA Experiments Reference
MIRT004318 hsa-miR-21-5p qRT-PCRWestern blot 19419954
MIRT002939 hsa-miR-125b-5p Western blot 19825990
MIRT005118 hsa-miR-125a-5p Luciferase reporter assayNorthern blotqRT-PCRWestern blot 17110380
MIRT005118 hsa-miR-125a-5p Luciferase reporter assayNorthern blotqRT-PCRWestern blot 17110380
MIRT002939 hsa-miR-125b-5p Luciferase reporter assayNorthern blotqRT-PCRWestern blot 17110380
Transcription factors Transcription factors information provided by TRRUST V2 database.
33
Transcription factor Regulation Reference
AR Activation 21613411
AR Unknown 21741601
ATF1 Unknown 10698518
ATF7 Unknown 10698518
CREB1 Unknown 10698518
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
107
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
164870 3430 ENSG00000141736
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
50
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
Colorectal cancer Pathogenic rs2059127438, rs2059860543 RCV001293826
RCV001293825
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer Pathogenic rs28933369 RCV000014893
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma susceptibility 1 Pathogenic rs28933368 RCV000014892
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung adenocarcinoma Likely pathogenic; Pathogenic rs397516975, rs587776805, rs121913469, rs1131692237, rs397516977, rs397516981 RCV000014889
RCV000014890
RCV000014891
RCV000491283
RCV003996361
View all (1 more)
★★★★★
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
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, 18199961, 20547458, 23179934, 29948766
★☆☆☆☆
Found in Text Mining only
Acoustic Neuroma Acoustic Neuroma LHGDN 17964790
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 18310300, 18724389, 21172013, 22168360, 23049944, 23104879, 24019492, 24961464, 25109760, 29082632, 29146616, 29501042, 31607147
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 15531467, 26887048
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 12404064
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 22845480, 2430175, 2491776, 3102433
★☆☆☆☆
Found in Text Mining only
Acute recurrent pancreatitis Pancreatitis BEFREE 12404064
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 10409444, 10655513, 10665910, 10750777, 10754210, 10797285, 10928158, 10950153, 10965998, 11358826, 11360194, 11773973, 11894014, 11948459, 12051626
View all (228 more)
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 11986780, 12910292, 14607699, 14744769, 15190415, 15211117, 16457151, 16490596, 16685109, 17292332, 17879632, 18172343, 18208799, 18381409, 18801081
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma CTD_human_DG 21673877, 22042947
★☆☆☆☆
Found in Text Mining only