Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.
| RefSeq Version | NM_001437.2, 94538323 |
| Length | 2169 bp |
| Structure | linear |
| Update Date | 01-MAY-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA. |
| Product | estrogen receptor beta isoform 1 |
| Comment | Summary: This gene encodes a member of the family of estrogen receptors and superfamily of nuclear receptor transcription factors. The gene product contains an N-terminal DNA binding domain and C-terminal ligand binding domain and is localized to the nucleus, cytoplasm, and mitochondria. Upon binding to 17beta-estradiol or related ligands, the encoded protein forms homo- or hetero-dimers that interact with specific DNA sequences to activate transcription. Some isoforms dominantly inhibit the activity of other estrogen receptor family members. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been fully characterized. [provided by RefSeq]. Transcript Variant: This variant (a), also known as 1, encodes the longer isoform (1). |
| RefSeq | NP_001428.1 |
| CDS | 469..2061 | Exon (1) | 1..378 | Exon (2) | 1..378 | Exon (3) | 379..830 | Exon (4) | 831..1003 | Exon (5) | 1004..1120 | Exon (6) | 1121..1420 | Exon (7) | 1421..1559 | Exon (8) | 1560..1693 | Exon (9) | 1694..1874 | Exon (10) | 1875..2169 |
| Translation | MDIKNSPSSLNSPSSYNCSQSILPLEHGSIYIPSSYVDSHHEYPAMTFYSPAVMNYSIPS
NVTNLEGGPGRQTTSPNVLWPTPGHLSPLVVHRQLSHLYAEPQKSPWCEARSLEHTLPVN
RETLKRKVSGNRCASPVTGPGSKRDAHFCAVCSDYASGYHYGVWSCEGCKAFFKRSIQGH
NDYICPATNQCTIDKNRRKSCQACRLRKCYEVGMVKCGSRRERCGYRLVRRQRSADEQLH
CAGKAKRSGGHAPRVRELLLDALSPEQLVLTLLEAEPPHVLISRPSAPFTEASMMMSLTK
LADKELVHMISWAKKIPGFVELSLFDQVRLLESCWMEVLMMGLMWRSIDHPGKLIFAPDL
VLDRDEGKCVEGILEIFDMLLATTSRFRELKLQHKEYLCVKAMILLNSSMYPLVTATQDA
DSSRKLAHLLNAVTDALVWVIAKSGISSQQQSMRLANLLMLLSHVRHASNKGMEHLLNMK
CKNVVPVYDLLLEMLNAHVLRGCKSSITGSECSPAEDSKSKEGSQNPQSQ
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| Position | Chain | Variation | Link |
| 8 | + | g, t | dbSNP:35036378 |
| complement(167) | - | c, a | dbSNP:111572677 |
| complement(233) | - | t, g | dbSNP:113832870 |
| 315..316 | + | , c | dbSNP:3832949 |
| complement(475) | - | t, c | dbSNP:111918185 |
| 532 | + | a, g | dbSNP:76299711 |
| complement(577) | - | t, c | dbSNP:61760170 |
| complement(704) | - | g, a | dbSNP:61760171 |
| 936 | + | a, t | dbSNP:1541060 |
| complement(1098) | - | g, a | dbSNP:112448932 |
| 1101 | + | a, g | dbSNP:74808355 |
| 1129 | + | a, g | dbSNP:78851986 |
| complement(1143) | - | t, c | dbSNP:113888207 |
| 1443 | + | c, t | dbSNP:58256696 |
| 1452 | + | a, g | dbSNP:1256049 |
| 1470 | + | c, t | dbSNP:56926155 |
| 1575 | + | c, t | dbSNP:80118085 |
| complement(1610) | - | g, a | dbSNP:112017626 |
| 1644 | + | c, g | dbSNP:1256054 |
| complement(1656) | - | t, c | dbSNP:45624541 |
| 1674 | + | c, g | dbSNP:72548752 |
| 1677 | + | g, t | dbSNP:79216673 |
| complement(1685) | - | g, a | dbSNP:111471356 |
| 1691 | + | c, t | dbSNP:78255744 |
| complement(1714..1715) | - | , c | dbSNP:34624204 |
| complement(1785) | - | c, a | dbSNP:113652563 |
| 1791 | + | c, t | dbSNP:60101369 |
| complement(2052) | - | t, c | dbSNP:112815397 |
| 2100 | + | a, g | dbSNP:4986938 |
| complement(2118) | - | t, c | dbSNP:111531403 |
| Gene Symbol | ESR2 |
| Gene Synonym | ER-BETA; Erb; ESR-BETA; ESRB; ESTRB; NR3A2 |
| Chromosome | 14 |
| Locus Map | 14q23.2 |
| All Transcripts | NM_001437 , NM_001040275 , NM_001040276 |
| Title | Does advanced-stage endometriosis affect the gene expression of estrogen and progesterone receptors in granulosa cells? . |
| Author | Karita,M., Yamashita,Y., Hayashi,A., Yoshida,Y., Hayashi,M., Yamamoto,H., Tanabe,A., Terai,Y. and Ohmichi,M. |
| Journal | Fertil. Steril. 95 (3), 889-894 (2011) |
| Title | Estrogen receptor-related genes as an important panel of predictors for breast cancer response to neoadjuvant chemotherapy . |
| Author | Chen,Y., Chen,C., Yang,B., Xu,Q., Wu,F., Liu,F., Ye,X., Meng,X., Mougin,B., Liu,G., Shen,Z., Shao,Z. and Wu,J. |
| Journal | Cancer Lett. 302 (1), 63-68 (2011) |
| Title | Role of estrogen receptors alpha, beta and GPER1/GPR30 in pancreatic beta-cells . |
| Author | Nadal,A., Alonso-Magdalena,P., Soriano,S., Ripoll,C., Fuentes,E., Quesada,I. and Ropero,A.B. |
| Journal | Front. Biosci. 16, 251-260 (2011) |
| Title | Estrogen receptor beta variants mRNA expressions in gastric cancer tissues and association with clinicopathologic parameters . |
| Author | Guo,J.L., Xu,C.Y., Jiang,Z.N., Dong,M.J., Xie,S.D., Shen,J.G., Cao,J. and Wang,L.B. |
| Journal | Hepatogastroenterology 57 (104), 1584-1588 (2010) |
| Title | Estrogen receptor beta genetic variants and combined oral contraceptive use as relates to the risk of hypertension in Chinese women . |
| Author | Chen,C., Li,Y., Chen,F., Pan,H., Shen,H., Sun,Z., Wu,Y., Zhou,J., Ba,L. and Zhao,J. |
| Journal | Arch. Med. Res. 41 (8), 599-605 (2010) |
| Title | Human estrogen receptor beta binds DNA in a manner similar to and dimerizes with estrogen receptor alpha . |
| Author | Pace,P., Taylor,J., Suntharalingam,S., Coombes,R.C. and Ali,S. |
| Journal | J. Biol. Chem. 272 (41), 25832-25838 (1997) |
| Title | Nuclear receptor coactivator ACTR is a novel histone acetyltransferase and forms a multimeric activation complex with P/CAF and CBP/p300 . |
| Author | Chen,H., Lin,R.J., Schiltz,R.L., Chakravarti,D., Nash,A., Nagy,L., Privalsky,M.L., Nakatani,Y. and Evans,R.M. |
| Journal | Cell 90 (3), 569-580 (1997) |
| Title | ER beta: identification and characterization of a novel human estrogen receptor . |
| Author | Mosselman,S., Polman,J. and Dijkema,R. |
| Journal | FEBS Lett. 392 (1), 49-53 (1996) |
| Title | Estrogen receptor-associated proteins: possible mediators of hormone-induced transcription . |
| Author | Halachmi,S., Marden,E., Martin,G., MacKay,H., Abbondanza,C. and Brown,M. |
| Journal | Science 264 (5164), 1455-1458 (1994) |
| Title | The crystal structure of the estrogen receptor DNA-binding domain bound to DNA: how receptors discriminate between their response elements . |
| Author | Schwabe,J.W., Chapman,L., Finch,J.T. and Rhodes,D. |
| Journal | Cell 75 (3), 567-578 (1993) |
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