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4647 MYO7A

4647

MYO7A

myosin VIIA

protein-coding

Homo sapiens

基因描述

Type Description
Definition myosin VIIA

研究结论

Date Results Publications
2021-04-03 13:29:00 The p.R206C Mutation in MYO7A Leads to Autosomal Dominant Nonsyndromic Hearing Loss. 32428919
2020-10-31 13:12:00 Characterisation of microvascular abnormalities using OCT angiography in patients with biallelic variants in USH2A and MYO7A. 31266775
2020-09-19 16:26:00 Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation. 31644917
2019-11-02 11:06:00 The compound heterozygous mutations of the MYO7A gene probably underlies the non-syndromic autosomal recessive deafness disease in this family. 31598937
2019-09-07 10:49:00 We found that silencing Myo7a by means of inhibited melanoma cell growth through upregulation of cell cycle regulator p21 (also known as CDKN1A) and suppressed melanoma cell migration and invasion through downregulation of RhoGDI2 (also known as ARHGDIB) 29361540

名称对应

Type IDs
Synonymous DFNA11, DFNB2, MYOVIIA, MYU7A, NSRD2, USH1B
Gene
UniProtKB-ID: MYO7A_HUMAN
UniprotKB: Q13402
UniParc: UPI0001F78006, UPI0002AF2039, UPI0002AF2036, UPI000002AE90, UPI0002AF2042, UPI000002AE8F, UPI00001FAFE6, UPI0000E445E2
EMBL: U55208, AH006665, U55209, AP001855, BF869194, U34227, AP000752, U39226, L29146
Ensembl: ENSG00000137474
KO: hsa:4647
Nucleutide sequences
EMBL-CDS: AAC50927.1, AAB03679.1, AAC51150.1, AAC50218.1, AAA20909.1, AAC50722.1
Ensembl_TRS: ENST00000458637, ENST00000409709, ENST00000409619
Protein sequencees
Ensembl_PRO: ENSP00000392185, ENSP00000386331, ENSP00000386635
RefSeq: XP_016873267.1, XP_016873272.1, XP_016873276.1, NP_001356294.1, XP_011543352.1, XP_016873273.1, XP_016873268.1, XP_016873271.1, XP_016873277.1, XP_016873275.1, NP_000251.3, XP_016873269.1, XP_011543346.1, NP_001120652.1, XP_016873274.1, XP_011543348.2, XP_016873270.1
Others
UniRef100: UniRef100_Q13402
UniRef90: UniRef90_Q13402
UniRef50: UniRef50_Q13402
UniGene: Hs.370421
CCDS: CCDS53684.1, CCDS53683.1

全选

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