Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.
| RefSeq Version | NM_004448.2, 54792095 |
| Length | 4624 bp |
| Structure | linear |
| Update Date | 01-MAY-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA. |
| Product | receptor tyrosine-protein kinase erbB-2 isoform a |
| Comment | 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 (1) represents the shorter transcript but encodes the longer isoform (a). |
| RefSeq | NP_004439.2 |
| CDS | 239..4006 | Exon (1) | 1..311 | Exon (2) | 1..311 | Exon (3) | 312..463 | Exon (4) | 464..677 | Exon (5) | 678..812 | Exon (6) | 813..881 | Exon (7) | 882..997 | Exon (8) | 998..1139 | Exon (9) | 1140..1259 | Exon (10) | 1260..1386 | Exon (11) | 1387..1460 | Exon (12) | 1461..1551 | Exon (13) | 1552..1751 | Exon (14) | 1752..1884 | Exon (15) | 1885..1975 | Exon (16) | 1976..2136 | Exon (17) | 2137..2184 | Exon (18) | 2185..2323 | Exon (19) | 2324..2446 | Exon (20) | 2447..2545 | Exon (21) | 2546..2731 | Exon (22) | 2732..2887 | Exon (23) | 2888..2963 | Exon (24) | 2964..3110 | Exon (25) | 3111..3208 | Exon (26) | 3209..3397 | Exon (27) | 3398..3650 | Exon (28) | 3651..4624 |
| Translation | MELAALCRWGLLLALLPPGAASTQVCTGTDMKLRLPASPETHLDMLRHLYQGCQVVQGNL
ELTYLPTNASLSFLQDIQEVQGYVLIAHNQVRQVPLQRLRIVRGTQLFEDNYALAVLDNG
DPLNNTTPVTGASPGGLRELQLRSLTEILKGGVLIQRNPQLCYQDTILWKDIFHKNNQLA
LTLIDTNRSRACHPCSPMCKGSRCWGESSEDCQSLTRTVCAGGCARCKGPLPTDCCHEQC
AAGCTGPKHSDCLACLHFNHSGICELHCPALVTYNTDTFESMPNPEGRYTFGASCVTACP
YNYLSTDVGSCTLVCPLHNQEVTAEDGTQRCEKCSKPCARVCYGLGMEHLREVRAVTSAN
IQEFAGCKKIFGSLAFLPESFDGDPASNTAPLQPEQLQVFETLEEITGYLYISAWPDSLP
DLSVFQNLQVIRGRILHNGAYSLTLQGLGISWLGLRSLRELGSGLALIHHNTHLCFVHTV
PWDQLFRNPHQALLHTANRPEDECVGEGLACHQLCARGHCWGPGPTQCVNCSQFLRGQEC
VEECRVLQGLPREYVNARHCLPCHPECQPQNGSVTCFGPEADQCVACAHYKDPPFCVARC
PSGVKPDLSYMPIWKFPDEEGACQPCPINCTHSCVDLDDKGCPAEQRASPLTSIISAVVG
ILLVVVLGVVFGILIKRRQQKIRKYTMRRLLQETELVEPLTPSGAMPNQAQMRILKETEL
RKVKVLGSGAFGTVYKGIWIPDGENVKIPVAIKVLRENTSPKANKEILDEAYVMAGVGSP
YVSRLLGICLTSTVQLVTQLMPYGCLLDHVRENRGRLGSQDLLNWCMQIAKGMSYLEDVR
LVHRDLAARNVLVKSPNHVKITDFGLARLLDIDETEYHADGGKVPIKWMALESILRRRFT
HQSDVWSYGVTVWELMTFGAKPYDGIPAREIPDLLEKGERLPQPPICTIDVYMIMVKCWM
IDSECRPRFRELVSEFSRMARDPQRFVVIQNEDLGPASPLDSTFYRSLLEDDDMGDLVDA
EEYLVPQQGFFCPDPAPGAGGMVHHRHRSSSTRSGGGDLTLGLEPSEEEAPRSPLAPSEG
AGSDVFDGDLGMGAAKGLQSLPTHDPSPLQRYSEDPTVPLPSETDGYVAPLTCSPQPEYV
NQPDVRPQPPSPREGPLPAARPAGATLERPKTLSPGKNGVVKDVFAFGGAVENPEYLTPQ
GGAAPQPHPPPAFSPAFDNLYYWDQDPPERGAPPSTFKGTPTAENPEYLGLDVPV
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| Gene Symbol | ERBB2 |
| Gene Synonym | CD340; HER-2; HER-2/neu; HER2; MLN 19; NEU; NGL; TKR1 |
| Chromosome | 17 |
| Locus Map | 17q21.1 |
| All Transcripts | NM_004448 , NM_001005862 |
| Title | Hunk is required for HER2/neu-induced mammary tumorigenesis . |
| Author | Yeh,E.S., Yang,T.W., Jung,J.J., Gardner,H.P., Cardiff,R.D. and Chodosh,L.A. |
| Journal | J. Clin. Invest. 121 (3), 866-879 (2011) |
| Title | Expression and significance of HER family receptors in neuroblastic tumors . |
| Author | Izycka-Swieszewska,E., Wozniak,A., Drozynska,E., Kot,J., Grajkowska,W., Klepacka,T., Perek,D., Koltan,S., Bien,E. and Limon,J. |
| Journal | Clin. Exp. Metastasis 28 (3), 271-282 (2011) |
| Title | Polymalic acid-based nanobiopolymer provides efficient systemic breast cancer treatment by inhibiting both HER2/neu receptor synthesis and activity . |
| Author | Inoue,S., Ding,H., Portilla-Arias,J., Hu,J., Konda,B., Fujita,M., Espinoza,A., Suhane,S., Riley,M., Gates,M., Patil,R., Penichet,M.L., Ljubimov,A.V., Black,K.L., Holler,E. and Ljubimova,J.Y. |
| Journal | Cancer Res. 71 (4), 1454-1464 (2011) |
| Title | ADAM 10 is associated with gastric cancer progression and prognosis of patients . |
| Author | Wang,Y.Y., Ye,Z.Y., Li,L., Zhao,Z.S., Shao,Q.S. and Tao,H.Q. |
| Journal | J Surg Oncol 103 (2), 116-123 (2011) |
| Title | [HER2 expression in gastric cancer in Peru] . |
| Author | Beltran Garate,B. and Yabar Berrocal,A. |
| Journal | Rev Gastroenterol Peru 30 (4), 324-327 (2010) |
| 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 . |
| Author | Gout,I., Dhand,R., Panayotou,G., Fry,M.J., Hiles,I., Otsu,M. and Waterfield,M.D. |
| Journal | Biochem. J. 288 (PT 2), 395-405 (1992) |
| Title | Regulated coupling of the Neu receptor to phosphatidylinositol 3'-kinase and its release by oncogenic activation . |
| Author | Peles,E., Lamprecht,R., Ben-Levy,R., Tzahar,E. and Yarden,Y. |
| Journal | J. Biol. Chem. 267 (17), 12266-12274 (1992) |
| Title | Elevated content of the tyrosine kinase substrate phospholipase C-gamma 1 in primary human breast carcinomas . |
| Author | Arteaga,C.L., Johnson,M.D., Todderud,G., Coffey,R.J., Carpenter,G. and Page,D.L. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 88 (23), 10435-10439 (1991) |
| Title | G to A polymorphism at amino acid codon 655 of the human erbB-2/HER2 gene . |
| Author | Papewalis,J., Nikitin,A.Yu. and Rajewsky,M.F. |
| Journal | Nucleic Acids Res. 19 (19), 5452 (1991) |
| Title | Oncogenic forms of the neu/HER2 tyrosine kinase are permanently coupled to phospholipase C gamma . |
| Author | Peles,E., Levy,R.B., Or,E., Ullrich,A. and Yarden,Y. |
| Journal | EMBO J. 10 (8), 2077-2086 (1991) |
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