MTMR14

GENE INFORMATION

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Gene name

MTMR14 (HGNC Symbol)

Synonyms

C3orf29, FLJ22405, FLJ90311, hEDTP, hJumpy

Description

Myotubularin related protein 14 (HGNC Symbol)

Entrez gene summary

This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]

Chromosome

3

Cytoband

p25.3

Chromosome location (bp)

9691117 - 9744077

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000163719 (version 75.37)

Entrez gene

64419

UniProt

Q8NCE2 (UniProt - Evidence at protein level)

neXtProt

NX_Q8NCE2

Antibodypedia

MTMR14 antibodies
 

PROTEIN VIEW

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MTMR14-001
 
MTMR14-002
 
MTMR14-003
 
MTMR14-004
 
MTMR14-005
 
MTMR14-006
 
MTMR14-007
 
MTMR14-009
 
MTMR14-010
 
MTMR14-011
 
MTMR14-012
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MTMR14-001 ENSP00000296003
ENST00000296003
Q8NCE2
Show all »
Show » Show » 650 72.2 Yes 0
MTMR14-002 ENSP00000323462
ENST00000353332
Q8NCE2
Show all »
Show » Show » 598 66.7 Yes 0
MTMR14-003 ENSP00000392690
ENST00000430020
B4DJ23
Show all »
Show » 188 20.9 Yes 0
MTMR14-004 ENSP00000410761
ENST00000447144
B4DQK9
Show all »
Show » 187 20.4 Yes 0
MTMR14-005 ENSP00000334070
ENST00000351233
Q8NCE2
Show all »
Show » Show » 538 60 Yes 0
MTMR14-006 ENSP00000392935
ENST00000414996
F8WCG0
Show all »
Show » 60 6.8 No 0
MTMR14-007 ENSP00000408813
ENST00000437997
F8WEA3
Show all »
Show » 71 7.3 Yes 0
MTMR14-009 ENSP00000401993
ENST00000420925
C9JSR1
Show all »
Show » Show » 292 31.4 Yes 0
MTMR14-010 ENSP00000412644
ENST00000416864
F8WCC0
Show all »
Show » 158 17.4 Yes 0
MTMR14-011 ENSP00000411417
ENST00000449543
F8WBT3
Show all »
Show » 36 4.1 No 0
MTMR14-012 ENSP00000388746
ENST00000431250
C9JR61
Show all »
Show » Show » 154 17.8 Yes 0