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9455 HOMER2

9455

HOMER2

homer scaffold protein 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition homer scaffold protein 2

研究结论

Date Results Publications
2019-11-16 13:24:00 we have identified a distinct, novel insertion variant in HOMER2, which provides validating evidence that HOMER2 is indeed required for normal hearing. Its sequence alteration is responsible for late-onset, autosomal dominant, non-syndromic, SNHL in humans. 30047143
2018-11-03 10:07:00 that HOMER2 may be involved in tumourigenesis of endometrioid uterine tumours 29891190
2017-02-18 11:34:00 Homer1 and Homer2 might be considered as novel diagnostic biomarkers for large-artery atherosclerosis stroke. 27832625
2016-01-23 11:27:00 This study showed that HOMER2 (rs1256429; intronic, p = 8.7 x 10(1)) associated with Alzheimer disease. 25649652
2016-01-02 11:11:00 These data provide compelling evidence that HOMER2 is required for normal hearing and that its sequence alteration in humans leads to ADNSHL through a dominant-negative mode of action 25816005

名称对应

Type IDs
Synonymous ACPD, CPD, DFNA68, HOMER-2, VESL-2
Gene
UniProtKB-ID: HOME2_HUMAN
UniprotKB: Q9NSB8
UniParc: UPI0000073D6D, UPI000006D53F
EMBL: AF081530, AC022558, Y19028, BC012109, AF093263, Y19026, AF093264, Y19025, AC044907, Y19027
Ensembl: ENSG00000103942
KO: hsa:9455
Nucleutide sequences
EMBL-CDS: CAB75537.1, AAH12109.1, AAD13748.1, AAC71027.1, AAC71028.1, CAB75538.1, CAB75540.1, CAB75539.1
Ensembl_TRS: ENST00000450735, ENST00000304231
Protein sequencees
Ensembl_PRO: ENSP00000407634, ENSP00000305632
RefSeq: XP_011520533.1, XP_005272506.1, XP_011520535.1, XP_011520534.1, XP_006720839.1, NP_004830.2, XP_005272505.1, XP_011520536.1, XP_006720838.1, NP_955362.1
Others
UniRef100: UniRef100_Q9NSB8
UniRef90: UniRef90_Q9NSB8
UniRef50: UniRef50_Q9NSB8
UniGene: Hs.578443
CCDS: CCDS45336.1, CCDS45334.1

全选

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