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220202 ATOH7

220202

ATOH7

atonal bHLH transcription factor 7

protein-coding

Homo sapiens

基因描述

Type Description
Definition atonal bHLH transcription factor 7

研究结论

Date Results Publications
2020-12-26 13:13:00 Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia. 31696227
2019-11-02 12:30:00 These results demonstrate the high potency of human ATOH7 in promoting early retinogenesis and specifying the retinal ganglion cells differentiation program, thus providing insight for manipulating retinal ganglion cells production from stem cell-derived retinal organoids. 29717171
2019-02-16 10:34:00 Our present results showed that the T allele of ATOH7 conferred an independent risk of non-arteritic ischemic optic neuropathy. 29792847
2017-11-18 13:38:00 In conclusion, we have identified a homozygous mutation in the ATOH7 gene in a patient with nonsyndromic congenital retinal nonattachment. 26933893
2017-07-01 10:53:00 We evaluated 21 consanguineous NCRNA pedigrees and identified the causal mutations in known retinal genes in 13 out of our 21 families. We found mutations in ATOH7 in three families. 28192794

名称对应

Type IDs
Synonymous Math5, NCRNA, PHPVAR, RNANC, bHLHa13
Gene
UniProtKB-ID: ATOH7_HUMAN, F1T0H4_HUMAN
UniprotKB: Q8N100, F1T0H4
UniParc: UPI000006CD31
EMBL: AB593109, AB593108, CH471083, AF418922, BK000277, BC032621
Ensembl: ENSG00000179774
KO: hsa:220202
Nucleutide sequences
EMBL-CDS: AAL11911.1, DAA01057.1, AAH32621.1, BAJ84048.1, EAW54269.1, BAJ84049.1
Gene_ORFName: hCG_1795924
Ensembl_TRS: ENST00000373673
Protein sequencees
Ensembl_PRO: ENSP00000362777
RefSeq: NP_660161.1
Others
UniRef100: UniRef100_Q8N100
UniRef90: UniRef90_Q8N100
UniRef50: UniRef50_Q8N100
UniGene: Hs.175396, Hs.737072
CCDS: CCDS7276.1

全选

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