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10290 SPEG

10290

SPEG

striated muscle enriched protein kinase

protein-coding

Homo sapiens

基因描述

Type Description
Definition striated muscle enriched protein kinase

研究结论

Date Results Publications
2020-12-19 13:41:00 Novel SPEG variant cause centronuclear myopathy in China. 31625632
2020-12-12 13:29:00 A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy. 32925938
2020-11-21 13:20:00 Striated muscle-specific serine/threonine-protein kinase beta segregates with high versus low responsiveness to endurance exercise training. 31790338
2019-07-06 10:15:00 Clinicians should consider evaluating a centronuclear myopathies patient for SPEG mutations even in the absence of centronuclear myopathies features 30412272
2014-10-18 11:34:00 SPEG is present in cardiac muscle, where it plays a critical role; therefore, individuals with SPEG mutations additionally present with dilated cardiomyopathy. 25087613

名称对应

Type IDs
Synonymous APEG-1, APEG1, BPEG, CNM5, MYLK6, SPEGalpha, SPEGbeta
Gene
UniProtKB-ID: SPEG_HUMAN
UniprotKB: Q15772
UniParc: UPI000183886F, UPI000066D99E, UPI0000125C5A, UPI00001C0C95
EMBL: AB037718, CR542201, DQ395348, AY603755, AC053503, BC006346, AK289531, CH471063, AK126500, U57099
Ensembl: ENSG00000072195
KO: hsa:10290
Nucleutide sequences
EMBL-CDS: BAF82220.1, BAC86568.1, AAT80901.1, AAH06346.1, AAY15052.1, AAC50599.1, EAW70747.1, ABD61734.1, BAA92535.1, CAG46998.1
Ensembl_TRS: ENST00000396686, ENST00000312358, ENST00000396688, ENST00000396689
Protein sequencees
Ensembl_PRO: ENSP00000311684, ENSP00000379919, ENSP00000379917, ENSP00000379920
RefSeq: XP_005246296.1, XP_006712252.1, XP_005246294.1, XP_016858650.1, XP_005246297.1, XP_016858647.1, XP_006712256.1, XP_016858651.1, XP_016858649.1, XP_011508785.2, XP_024308294.1, XP_016858646.1, XP_011508781.1, XP_005246298.1, NP_001166947.1, XP_005246299.1, NP_005867.3, XP_016858648.1
Others
UniRef100: UniRef100_Q15772
UniRef90: UniRef90_Q15772
UniRef50: UniRef50_Q15772
UniGene: Hs.21639
CCDS: CCDS42824.1, CCDS54432.1

全选

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