MTMR12 (myotubularin related protein 12)

2007-04-01  

Identity

HGNC
LOCATION
5p13.3
LOCUSID
ALIAS
3-PAP,PIP3AP
FUSION GENES

Other Information

Locus ID:

NCBI: 54545
MIM: 606501
HGNC: 18191
Ensembl: ENSG00000150712

Variants:

dbSNP: 54545
ClinVar: 54545
TCGA: ENSG00000150712
COSMIC: MTMR12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000150712ENST00000264934Q9C0I1
ENSG00000150712ENST00000280285Q9C0I1
ENSG00000150712ENST00000382142Q9C0I1
ENSG00000150712ENST00000505419D6RHK0
ENSG00000150712ENST00000513622D6RE76

Expression (GTEx)

0
5
10
15
20
25
30
35

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
238188702013Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.12
238188702013Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.12
214514362012Mutation screening of PDZD2, GOLPH3, and MTMR12 genes in patients with schizophrenia.0
214514362012Mutation screening of PDZD2, GOLPH3, and MTMR12 genes in patients with schizophrenia.0
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
128472862003Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP.33
128472862003Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP.33

Citation

Dessen P

MTMR12 (myotubularin related protein 12)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47392/mtmr12-(myotubularin-related-protein-12)