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1123 CHN1

1123

CHN1

chimerin 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition chimerin 1

研究结论

Date Results Publications
2021-01-16 15:56:00 Identification of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome. 33004823
2019-04-20 10:52:00 The results suggest that chemerin plays an important role in inhibiting the cell proliferation of hepatocellular carcinomas by interfering with cellular iron homeostasis in this type of tumors. 29872820
2018-06-16 11:31:00 CHN1 mutations were identified in 2 bilateral cases and in 1 parent of 1 affected case. One mutation is novel and occurred with additional vertical gaze abnormalities. 29031989
2017-11-18 11:34:00 CHN1 and TNFAIP3 are candidate biomarkers for esophageal squamous cell carcinomas 27072986
2017-09-16 12:23:00 These findings reveal a role for ephrin bidirectional signaling upstream of mutant alpha2-chimaerin in Duane retraction syndrome, which may contribute to the selective vulnerability of abducens motor neurons in this disorder 28346224

名称对应

Type IDs
Synonymous ARHGAP2, CHN, DURS2, NC, RHOGAP2
Gene
UniProtKB-ID: CHIN_HUMAN
UniprotKB: P15882
UniParc: UPI0000EE2E85, UPI000002A653, UPI000012781D
EMBL: AC018890, BC011393, AK055060, CH471058, X51408, AC007435, AC020596, Z22641, AK300890, AK289941, S75654
Ensembl: ENSG00000128656
KO: hsa:1123
Nucleutide sequences
EMBL-CDS: CAA35769.1, AAY14940.1, AAB33506.1, BAF82630.1, BAG51458.1, CAA80354.1, AAY14688.1, EAX11117.1, EAX11118.1, EAX11119.1, BAG62531.1, AAH11393.1
Ensembl_TRS: ENST00000295497, ENST00000409156, ENST00000409900
Protein sequencees
Ensembl_PRO: ENSP00000295497, ENSP00000386470, ENSP00000386741
RefSeq: NP_001358442.1, NP_001813.1, NP_001358443.1, NP_001020372.2, NP_001193531.1
Others
UniRef100: UniRef100_P15882
UniRef90: UniRef90_P15882
UniRef50: UniRef50_P15882
UniGene: Hs.380138
CCDS: CCDS46454.1, CCDS56147.1, CCDS46455.1

全选

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