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80210 ARMC9

80210

ARMC9

armadillo repeat containing 9

protein-coding

Homo sapiens

基因描述

Type Description
Definition armadillo repeat containing 9

研究结论

Date Results Publications
2020-01-11 11:03:00 Our study suggests that ARMC9 variants do not play a critical role in the development of Vogt-Koyanagi disease. 30395750
2018-06-23 10:49:00 Our report of variant in ARMC9 Leading to Joubert syndrome phenotype (JS30), elucidates the genetic heterogeneity of Joubert syndrome, and expands the gene list for ciliopathies. 29159890
2017-08-05 10:07:00 ARMC9 localizes to the basal body of the cilium and is upregulated during ciliogenesis. 28625504
2010-09-15 22:05:00 Observational study of gene-disease association. (HuGE Navigator) 19913121
2010-09-15 22:05:00 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) 20628086

名称对应

Type IDs
Synonymous ARM, JBTS30, KU-MEL-1, NS21
Gene
UniProtKB-ID: ARMC9_HUMAN, A0A024R486_HUMAN
UniprotKB: Q7Z3E5, A0A024R486
UniParc: UPI00001A9D36, UPI0004620CEF, UPI000CECE36B
EMBL: BC004514, AC018738, KF510790, KF510793, AY929062, AK022646, AB058771, AY219922, KF510794, BX537956, BC065271, CH471063, AC009407
Ensembl: ENSG00000135931
KO: hsa:80210
Nucleutide sequences
EMBL-CDS: AAO63554.1, AAH04514.2, BAB47497.1, CAD97923.1, AAH65271.1, AAX22760.1, AAX93129.1, BAB14153.1, EAW70955.1, EAW70952.1
Gene_ORFName: hCG_1811428
Ensembl_TRS: ENST00000614261, ENST00000611582
Protein sequencees
Ensembl_PRO: ENSP00000484804, ENSP00000484241
RefSeq: NP_001339686.2, XP_011510215.1, NP_001278585.2, XP_011510207.1, XP_016860513.1, NP_001339685.2, XP_011510217.1, XP_016860510.1, XP_011510216.1, NP_079415.4, NP_001339684.2, NP_001339683.2, XP_011510221.1, NP_001339687.2, XP_011510218.1, XP_011510210.1, XP_011510208.1, XP_011510211.1, XP_011510212.1, NP_001339688.2, XP_011510209.1, XP_016860514.1, NP_001258395.2, XP_011510214.1, XP_016860511.1
Others
UniRef100: UniRef100_A0A024R486, UniRef100_Q7Z3E5
UniRef90: UniRef90_Q7Z3E5-2, UniRef90_Q7Z3E5
UniRef50: UniRef50_Q7Z3E5
UniGene: Hs.471610
CCDS: CCDS74666.1

全选

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