Cell atlas - MTMR14 - The Human Protein Atlas

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MTMR14

TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

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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
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

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

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The Project

The Human Protein Atlas

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