LOCUS NP_001005862 1225 aa linear PRI 23-NOV-2008
DEFINITION erbB-2 isoform b [Homo sapiens].
ACCESSION NP_001005862
VERSION NP_001005862.1 GI:54792098
DBSOURCE REFSEQ: accession NM_001005862.1
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 1225)
AUTHORS Vega,A., Salas,A., Milne,R.L., Carracedo,B., Ribas,G., Ruibal,A.,
de Leon,A.C., Gonzalez-Hernandez,A., Benitez,J. and Carracedo,A.
TITLE Evaluating new candidate SNPs as low penetrance risk factors in
sporadic breast cancer: A two-stage Spanish case-control study
JOURNAL Gynecol. Oncol. (2008) In press
PUBMED 18950845
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Available-Online prior to print
REFERENCE 2 (residues 1 to 1225)
AUTHORS Wu,C.H., Tu,H.F., Gong,N.R., Chen,Y.W., Liu,C.J. and Kao,S.Y.
TITLE The Val allele of HER-2 codon 655 predicts the progression of oral
squamous cell carcinoma
JOURNAL Oral Oncol. (2008) In press
PUBMED 18849186
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Available-Online prior to print
REFERENCE 3 (residues 1 to 1225)
AUTHORS Vieira,A.R., McHenry,T.G., Daack-Hirsch,S., Murray,J.C. and
Marazita,M.L.
TITLE Candidate gene/loci studies in cleft lip/palate and dental
anomalies finds novel susceptibility genes for clefts
JOURNAL Genet. Med. 10 (9), 668-674 (2008)
PUBMED 18978678
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 4 (residues 1 to 1225)
AUTHORS Siddig,A., Mohamed,A.O., Kamal,H., Awad,S., Hassan,A.H., Zilahi,E.,
Al-Haj,M., Bernsen,R. and Adem,A.
TITLE HER-2/neu Ile655Val polymorphism and the risk of breast cancer
JOURNAL Ann. N. Y. Acad. Sci. 1138, 84-94 (2008)
PUBMED 18837888
REMARK GeneRIF: Observational study of gene-disease association and
gene-gene interaction. (HuGE Navigator)
REFERENCE 5 (residues 1 to 1225)
AUTHORS Kharrat,N., Al'Fadhli,S. and Rebai,A.
TITLE Screening and validation of dinucleotide repeats in intron 1 of the
human EGFR gene and its paralog in the HER2 gene
JOURNAL J. Recept. Signal Transduct. Res. 28 (5), 475-483 (2008)
PUBMED 18946768
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 6 (sites)
AUTHORS Dankort,D., Jeyabalan,N., Jones,N., Dumont,D.J. and Muller,W.J.
TITLE Multiple ErbB-2/Neu Phosphorylation Sites Mediate Transformation
through Distinct Effector Proteins
JOURNAL J. Biol. Chem. 276 (42), 38921-38928 (2001)
PUBMED 11500516
REFERENCE 7 (sites)
AUTHORS Zhang,X.Q., Lee,M.S., Zelivianski,S. and Lin,M.F.
TITLE Characterization of a prostate-specific tyrosine phosphatase by
mutagenesis and expression in human prostate cancer cells
JOURNAL J. Biol. Chem. 276 (4), 2544-2550 (2001)
PUBMED 11067847
REFERENCE 8 (sites)
AUTHORS Meng,T.C., Lee,M.S. and Lin,M.F.
TITLE Interaction between protein tyrosine phosphatase and protein
tyrosine kinase is involved in androgen-promoted growth of human
prostate cancer cells
JOURNAL Oncogene 19 (22), 2664-2677 (2000)
PUBMED 10851066
REFERENCE 9 (sites)
AUTHORS Gulliford,T., Ouyang,X. and Epstein,R.J.
TITLE Intensification of growth factor receptor signalling by phorbol
treatment of ligand-primed cells implies a dimer-stabilizing effect
of protein kinase C-dependent juxtamembrane domain phosphorylation
JOURNAL Cell. Signal. 11 (4), 245-252 (1999)
PUBMED 10372802
REFERENCE 10 (sites)
AUTHORS Meng,T.C. and Lin,M.F.
TITLE Tyrosine phosphorylation of c-ErbB-2 is regulated by the cellular
form of prostatic acid phosphatase in human prostate cancer cells
JOURNAL J. Biol. Chem. 273 (34), 22096-22104 (1998)
PUBMED 9705354
REFERENCE 11 (residues 1 to 1225)
AUTHORS Gout,I., Dhand,R., Panayotou,G., Fry,M.J., Hiles,I., Otsu,M. and
Waterfield,M.D.
TITLE Expression and characterization of the p85 subunit of the
phosphatidylinositol 3-kinase complex and a related p85 beta
protein by using the baculovirus expression system
JOURNAL Biochem. J. 288 (PT 2), 395-405 (1992)
PUBMED 1334406
REFERENCE 12 (residues 1 to 1225)
AUTHORS Peles,E., Lamprecht,R., Ben-Levy,R., Tzahar,E. and Yarden,Y.
TITLE Regulated coupling of the Neu receptor to phosphatidylinositol
3'-kinase and its release by oncogenic activation
JOURNAL J. Biol. Chem. 267 (17), 12266-12274 (1992)
PUBMED 1351056
REFERENCE 13 (residues 1 to 1225)
AUTHORS Arteaga,C.L., Johnson,M.D., Todderud,G., Coffey,R.J., Carpenter,G.
and Page,D.L.
TITLE Elevated content of the tyrosine kinase substrate phospholipase
C-gamma 1 in primary human breast carcinomas
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 88 (23), 10435-10439 (1991)
PUBMED 1683701
REFERENCE 14 (residues 1 to 1225)
AUTHORS Papewalis,J., Nikitin,A.Yu. and Rajewsky,M.F.
TITLE G to A polymorphism at amino acid codon 655 of the human
erbB-2/HER2 gene
JOURNAL Nucleic Acids Res. 19 (19), 5452 (1991)
PUBMED 1681519
REFERENCE 15 (residues 1 to 1225)
AUTHORS Peles,E., Levy,R.B., Or,E., Ullrich,A. and Yarden,Y.
TITLE Oncogenic forms of the neu/HER2 tyrosine kinase are permanently
coupled to phospholipase C gamma
JOURNAL EMBO J. 10 (8), 2077-2086 (1991)
PUBMED 1676673
REFERENCE 16 (sites)
AUTHORS Hazan,R., Margolis,B., Dombalagian,M., Ullrich,A., Zilberstein,A.
and Schlessinger,J.
TITLE Identification of autophosphorylation sites of HER2/neu
JOURNAL Cell Growth Differ. 1 (1), 3-7 (1990)
PUBMED 1706616
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BI755753.1, X03363.1 and
BM678576.1.
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-bound
EGF receptor family members to form a heterodimer, stabilizing
ligand binding and enhancing kinase-mediated activation of
downstream signalling pathways, such as those involving
mitogen-activated protein kinase and phosphatidylinositol-3 kinase.
Allelic variations at amino acid positions 654 and 655 of isoform a
(positions 624 and 625 of isoform b) have been reported, with the
most common allele, Ile654/Ile655, shown here. Amplification and/or
overexpression of this gene has been reported in numerous cancers,
including breast and ovarian tumors. Alternative splicing results
in several additional transcript variants, some encoding different
isoforms and others that have not been fully characterized.
[provided by RefSeq].
Transcript Variant: This variant (2) contains additional exons at
its 5' end and lacks an alternate 5' noncoding exon, compared to
variant 1. These differences result in translation initiation at an
in-frame, downstream AUG and an isoform (b) with a shorter
N-terminus compared to isoform a.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the
Entrez Gene record to access additional publications.
FEATURES Location/Qualifiers
source 1..1225
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="17"
/map="17q21.1"
Protein 1..1225
/product="erbB-2 isoform b"
/EC_number="2.7.10.1"
/note="v-erb-b2 avian erythroblastic leukemia viral
oncogene homolog 2 (neuro/glioblastoma derived oncogene
homolog); herstatin; neuroblastoma/glioblastoma derived
oncogene homolog; c-erb B2/neu protein"
/calculated_mol_wt=134725
Site 993
/site_type="phosphorylation"
/experiment="experimental evidence, no additional details
recorded"
/citation=[6]
/citation=[16]
/db_xref="HPRD:01281"
Site 1109
/site_type="phosphorylation"
/experiment="experimental evidence, no additional details
recorded"
/citation=[9]
/citation=[16]
/db_xref="HPRD:01281"
Site 1166
/site_type="phosphorylation"
/experiment="experimental evidence, no additional details
recorded"
/citation=[6]
Site 1191
/site_type="phosphorylation"
/experiment="experimental evidence, no additional details
recorded"
/citation=[6]
/citation=[16]
/db_xref="HPRD:01281"
Site 1192
/site_type="phosphorylation"
/experiment="experimental evidence, no additional details
recorded"
/citation=[9]
/citation=[16]
/db_xref="HPRD:01281"
Site 1218
/site_type="modified"
/experiment="experimental evidence, no additional details
recorded"
/note="dephosphorylation site"
/citation=[7]
/citation=[8]
/citation=[10]
/db_xref="HPRD:01378"
Site 1218
/site_type="phosphorylation"
/experiment="experimental evidence, no additional details
recorded"
/citation=[6]
/db_xref="HPRD:00579"
Site 1218
/site_type="phosphorylation"
/experiment="experimental evidence, no additional details
recorded"
/citation=[6]
/db_xref="HPRD:01281"
CDS 1..1225
/gene="ERBB2"
/gene_synonym="NEU"
/gene_synonym="NGL"
/gene_synonym="HER2"
/gene_synonym="TKR1"
/gene_synonym="CD340"
/gene_synonym="HER-2"
/gene_synonym="HER-2/neu"
/coded_by="NM_001005862.1:521..4198"
/note="isoform b is encoded by transcript variant 2"
/db_xref="GeneID:2064"
/db_xref="HGNC:3430"
/db_xref="HPRD:01281"
/db_xref="MIM:164870"
ORIGIN
1 mklrlpaspe thldmlrhly qgcqvvqgnl eltylptnas lsflqdiqev qgyvliahnq
61 vrqvplqrlr ivrgtqlfed nyalavldng dplnnttpvt gaspgglrel qlrslteilk
121 ggvliqrnpq lcyqdtilwk difhknnqla ltlidtnrsr achpcspmck gsrcwgesse
181 dcqsltrtvc aggcarckgp lptdccheqc aagctgpkhs dclaclhfnh sgicelhcpa
241 lvtyntdtfe smpnpegryt fgascvtacp ynylstdvgs ctlvcplhnq evtaedgtqr
301 cekcskpcar vcyglgmehl revravtsan iqefagckki fgslaflpes fdgdpasnta
361 plqpeqlqvf etleeitgyl yisawpdslp dlsvfqnlqv irgrilhnga ysltlqglgi
421 swlglrslre lgsglalihh nthlcfvhtv pwdqlfrnph qallhtanrp edecvgegla
481 chqlcarghc wgpgptqcvn csqflrgqec veecrvlqgl preyvnarhc lpchpecqpq
541 ngsvtcfgpe adqcvacahy kdppfcvarc psgvkpdlsy mpiwkfpdee gacqpcpinc
601 thscvdlddk gcpaeqrasp ltsiisavvg illvvvlgvv fgilikrrqq kirkytmrrl
661 lqetelvepl tpsgampnqa qmrilketel rkvkvlgsga fgtvykgiwi pdgenvkipv
721 aikvlrents pkankeilde ayvmagvgsp yvsrllgicl tstvqlvtql mpygclldhv
781 renrgrlgsq dllnwcmqia kgmsyledvr lvhrdlaarn vlvkspnhvk itdfglarll
841 dideteyhad ggkvpikwma lesilrrrft hqsdvwsygv tvwelmtfga kpydgipare
901 ipdllekger lpqppictid vymimvkcwm idsecrprfr elvsefsrma rdpqrfvviq
961 nedlgpaspl dstfyrslle dddmgdlvda eeylvpqqgf fcpdpapgag gmvhhrhrss
1021 strsgggdlt lglepseeea prsplapseg agsdvfdgdl gmgaakglqs lpthdpsplq
1081 rysedptvpl psetdgyvap ltcspqpeyv nqpdvrpqpp spregplpaa rpagatlerp
1141 ktlspgkngv vkdvfafgga venpeyltpq ggaapqphpp pafspafdnl yywdqdpper
1201 gappstfkgt ptaenpeylg ldvpv
//