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MTMR14

GENERAL INFORMATION

Gene name

 MTMR14

Gene description

 Myotubularin related protein 14

Protein class

 Disease related genes
Predicted secreted proteins

Predicted localization

 Secreted

Number of transcripts

 6
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in several tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA054063
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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)

 9649433 - 9702394

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000163719 (version 83.38)

Entrez gene

 64419

UniProt

 Q8NCE2 (UniProt - Evidence at protein level)

neXtProt

 NX_Q8NCE2

Antibodypedia

 MTMR14 antibodies

PROTEIN BROWSER
MTMR14-001
MTMR14-002
MTMR14-005
MTMR14-009
MTMR14-012
MTMR14-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
MTMR14-001
ENSP00000296003
ENST00000296003
Q8NCE2 [Direct mapping]
Myotubularin-related protein 14
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001726 [ruffle]
GO:0004438 [phosphatidylinositol-3-phosphatase activity]
GO:0004725 [protein tyrosine phosphatase activity]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0006644 [phospholipid metabolic process]
GO:0006661 [phosphatidylinositol biosynthetic process]
GO:0016236 [macroautophagy]
GO:0016311 [dephosphorylation]
GO:0016791 [phosphatase activity]
GO:0035335 [peptidyl-tyrosine dephosphorylation]
GO:0044281 [small molecule metabolic process]
GO:0048471 [perinuclear region of cytoplasm]
Show all
 650 aa
72.2 kDa 		Yes 0
MTMR14-002
ENSP00000323462
ENST00000353332
Q8NCE2 [Direct mapping]
Myotubularin-related protein 14
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001726 [ruffle]
GO:0004438 [phosphatidylinositol-3-phosphatase activity]
GO:0004725 [protein tyrosine phosphatase activity]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0006644 [phospholipid metabolic process]
GO:0006661 [phosphatidylinositol biosynthetic process]
GO:0016236 [macroautophagy]
GO:0016311 [dephosphorylation]
GO:0016791 [phosphatase activity]
GO:0035335 [peptidyl-tyrosine dephosphorylation]
GO:0044281 [small molecule metabolic process]
GO:0048471 [perinuclear region of cytoplasm]
Show all
 598 aa
66.7 kDa 		Yes 0
MTMR14-005
ENSP00000334070
ENST00000351233
Q8NCE2 [Direct mapping]
Myotubularin-related protein 14
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001726 [ruffle]
GO:0004438 [phosphatidylinositol-3-phosphatase activity]
GO:0004725 [protein tyrosine phosphatase activity]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0006644 [phospholipid metabolic process]
GO:0006661 [phosphatidylinositol biosynthetic process]
GO:0016236 [macroautophagy]
GO:0016311 [dephosphorylation]
GO:0016791 [phosphatase activity]
GO:0035335 [peptidyl-tyrosine dephosphorylation]
GO:0044281 [small molecule metabolic process]
GO:0048471 [perinuclear region of cytoplasm]
Show all
 538 aa
60 kDa 		Yes 0
MTMR14-009
ENSP00000401993
ENST00000420925
C9JSR1 [Direct mapping]
Myotubularin-related protein 14
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004725 [protein tyrosine phosphatase activity]
GO:0016311 [dephosphorylation]
GO:0016791 [phosphatase activity]
GO:0035335 [peptidyl-tyrosine dephosphorylation]
Show all
 292 aa
31.4 kDa 		Yes 0
MTMR14-012
ENSP00000388746
ENST00000431250
C9JR61 [Direct mapping]
Myotubularin-related protein 14
Show all
   MEMSAT-SVM predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004725 [protein tyrosine phosphatase activity]
GO:0016311 [dephosphorylation]
GO:0016791 [phosphatase activity]
GO:0035335 [peptidyl-tyrosine dephosphorylation]
Show all
 154 aa
17.8 kDa 		Yes 0
MTMR14-201
ENSP00000478236
ENST00000617504
A0A087WTZ0 [Direct mapping]
Myotubularin-related protein 14
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004725 [protein tyrosine phosphatase activity]
GO:0016311 [dephosphorylation]
GO:0016791 [phosphatase activity]
GO:0035335 [peptidyl-tyrosine dephosphorylation]
Show all
 520 aa
58.2 kDa 		Yes 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.