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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
128472862003Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP.29
238188702013Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.4
214514362012Mutation screening of PDZD2, GOLPH3, and MTMR12 genes in patients with schizophrenia.0

Citation

Dessen P

MTMR12 (myotubularin related protein 12)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47392/mtmr12