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51244 CCDC174

51244

CCDC174

coiled-coil domain containing 174

protein-coding

Homo sapiens

基因描述

Type Description
Definition coiled-coil domain containing 174

研究结论

Date Results Publications
2016-09-17 11:42:00 We showed that CCDC174 is ubiquitous, restricted to the cell nucleus and co-localized with EIF4A3, the CCDC174 mutation caused depletion of RYR1 and marked myopathic changes in skeletal muscle of affected individuals 26358778
2010-06-30 22:05:00 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) 20379614

名称对应

Type IDs
Synonymous C3orf19, HSPC212, IHPM, IHPMR
Gene
UniProtKB-ID: CC174_HUMAN, A0A0B4J1R8_HUMAN
UniprotKB: Q6PII3, A0A0B4J1R8
UniParc: UPI0000049C73, UPI00004120DD
EMBL: BC033897, AC090952, BC013999
Ensembl: ENSG00000154781
KO: hsa:51244
Nucleutide sequences
EMBL-CDS: AAH13999.2, AAH33897.2
Ensembl_TRS: ENST00000383794, ENST00000303688
Protein sequencees
Ensembl_PRO: ENSP00000373304, ENSP00000302344
RefSeq: NP_057558.3, XP_016862044.1, XP_016862043.1
Others
UniRef100: UniRef100_A0A0B4J1R8, UniRef100_Q6PII3
UniRef90: UniRef90_Q6PII3, UniRef90_A0A0B4J1R8
UniRef50: UniRef50_A0A0B4J1R8, UniRef50_Q6PII3
UniGene: Hs.517820
CCDS: CCDS2620.2

全选

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研究热度

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