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54545 MTMR12

54545

MTMR12

myotubularin related protein 12

protein-coding

Homo sapiens

基因描述

Type Description
Definition myotubularin related protein 12

研究结论

Date Results Publications
2013-09-14 10:42:00 Analysis of human XLMTM patient myotubes showed that mutations that disrupt the interaction between myotubularin and MTMR12 proteins result in reduction of both myotubularin and MTMR12 23818870
2012-08-11 10:07:00 This study does not support the association of PDZD2, GOLPH3, and MTMR12 genes with schizophrenia. 21451436
2010-06-30 22:06:00 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) 20379614
2010-01-21 00:00:00 Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP. 12847286

名称对应

Type IDs
Synonymous 3-PAP, PIP3AP
Gene
UniProtKB-ID: MTMRC_HUMAN
UniprotKB: Q9C0I1
UniParc: UPI00001CE035, UPI000013DC0C, UPI00001678D2
EMBL: AY028703, BC057393, AB051469, AL833231, AK000483
Ensembl: ENSG00000150712
KO: hsa:54545
Nucleutide sequences
EMBL-CDS: CAH10604.1, AAK26171.1, BAB21773.1, AAH57393.1, BAA91195.1
Ensembl_TRS: ENST00000264934, ENST00000280285, ENST00000382142
Protein sequencees
Ensembl_PRO: ENSP00000280285, ENSP00000264934, ENSP00000371577
RefSeq: NP_001281272.1, NP_001281273.1, NP_001035536.1
Others
UniRef100: UniRef100_Q9C0I1
UniRef90: UniRef90_Q9C0I1
UniRef50: UniRef50_Q9C0I1
UniGene: Hs.481836
CCDS: CCDS77998.1, CCDS34138.1, CCDS75230.1

全选

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研究热度

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