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Aliases for MTMR14 Gene

Aliases for MTMR14 Gene

  • Myotubularin Related Protein 14 2 3
  • C3orf29 3 4 6
  • HCV NS5A-Transactivated Protein 4 Splice Variant A-Binding Protein 1 3 4
  • NS5ATP4ABP1 3 4
  • HJUMPY 4 6
  • Egg-Derived Tyrosine Phosphatase Homolog (Drosophila) 2
  • Egg-Derived Tyrosine Phosphatase Homolog 3
  • Chromosome 3 Open Reading Frame 29 2
  • Myotubularin-Related Protein 14 3
  • EC 3.1.3.- 4
  • Jumpy 3

External Ids for MTMR14 Gene

Previous HGNC Symbols for MTMR14 Gene

  • C3orf29

Previous GeneCards Identifiers for MTMR14 Gene

  • GC03P009668
  • GC03P009627

Summaries for MTMR14 Gene

Entrez Gene Summary for MTMR14 Gene

  • 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]

GeneCards Summary for MTMR14 Gene

MTMR14 (Myotubularin Related Protein 14) is a Protein Coding gene. Diseases associated with MTMR14 include myopathy, centronuclear. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein tyrosine phosphatase activity and phosphatidylinositol-3-phosphatase activity.

UniProtKB/Swiss-Prot for MTMR14 Gene

  • Lipid phosphatase which efficiently dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2; inactive toward PtdIns4P, PtdIns(3,4)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P3.

Gene Wiki entry for MTMR14 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTMR14 Gene

Genomics for MTMR14 Gene

Regulatory Elements for MTMR14 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MTMR14 Gene

Start:
9,649,433 bp from pter
End:
9,702,394 bp from pter
Size:
52,962 bases
Orientation:
Plus strand

Genomic View for MTMR14 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MTMR14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTMR14 Gene

Proteins for MTMR14 Gene

  • Protein details for MTMR14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NCE2-MTMRE_HUMAN
    Recommended name:
    Myotubularin-related protein 14
    Protein Accession:
    Q8NCE2
    Secondary Accessions:
    • Q0JTH5
    • Q0JU83
    • Q6PIZ4
    • Q6QE21
    • Q86VK9
    • Q8IYK1
    • Q8TCM7
    • Q9H6C0

    Protein attributes for MTMR14 Gene

    Size:
    650 amino acids
    Molecular mass:
    72203 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15340.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MTMR14 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTMR14 Gene

Proteomics data for MTMR14 Gene at MOPED

Post-translational modifications for MTMR14 Gene

  • Ubiquitination at Lys409
  • Glycosylation at Asn226 and Asn519
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MTMR14 (MTMR14)
  • Santa Cruz Biotechnology (SCBT) Antibodies for MTMR14

No data available for DME Specific Peptides for MTMR14 Gene

Domains for MTMR14 Gene

Gene Families for MTMR14 Gene

HGNC:
  • DUSPM :Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins

Protein Domains for MTMR14 Gene

Suggested Antigen Peptide Sequences for MTMR14 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NCE2

UniProtKB/Swiss-Prot:

MTMRE_HUMAN :
  • Q8NCE2
Family:
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
genes like me logo Genes that share domains with MTMR14: view

Function for MTMR14 Gene

Molecular function for MTMR14 Gene

UniProtKB/Swiss-Prot Function: Lipid phosphatase which efficiently dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2; inactive toward PtdIns4P, PtdIns(3,4)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P3.

Enzyme Numbers (IUBMB) for MTMR14 Gene

Gene Ontology (GO) - Molecular Function for MTMR14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004438 phosphatidylinositol-3-phosphatase activity IDA 17008356
GO:0004725 protein tyrosine phosphatase activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with MTMR14: view
genes like me logo Genes that share phenotypes with MTMR14: view

Animal Models for MTMR14 Gene

MGI Knock Outs for MTMR14:

Animal Model Products

CRISPR Products

miRNA for MTMR14 Gene

No data available for Transcription Factor Targeting and HOMER Transcription for MTMR14 Gene

Localization for MTMR14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTMR14 Gene

Cytoplasm. Note=Found in reticular structures and plasma membrane ruffles. Concentrated near the nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MTMR14 Gene COMPARTMENTS Subcellular localization image for MTMR14 gene
Compartment Confidence
cytosol 4
nucleus 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for MTMR14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IDA 17008356
GO:0005829 cytosol TAS --
GO:0048471 perinuclear region of cytoplasm IDA 17008356
genes like me logo Genes that share ontologies with MTMR14: view

Pathways for MTMR14 Gene

genes like me logo Genes that share pathways with MTMR14: view

Gene Ontology (GO) - Biological Process for MTMR14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process TAS --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0035335 peptidyl-tyrosine dephosphorylation IEA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with MTMR14: view

Compounds for MTMR14 Gene

(1) HMDB Compounds for MTMR14 Gene

Compound Synonyms Cas Number PubMed IDs
Phosphate
  • NFB Orthophosphate
14265-44-2
genes like me logo Genes that share compounds with MTMR14: view

Transcripts for MTMR14 Gene

Unigene Clusters for MTMR14 Gene

Myotubularin related protein 14:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MTMR14

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTMR14 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4: -
SP5: - - - - -
SP6: - - - - - - - - -
SP7: - - - - -
SP8: - -
SP9: -
SP10: - - - - - - - - - -
SP11: - - - - - - - - - -
SP12: - - - - - -
SP13: -

ExUns: 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
SP1:
SP2: -
SP3: - -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for MTMR14 Gene

GeneLoc Exon Structure for
MTMR14
ECgene alternative splicing isoforms for
MTMR14

Expression for MTMR14 Gene

mRNA expression in normal human tissues for MTMR14 Gene

mRNA differential expression in normal tissues according to GTEx for MTMR14 Gene

This gene is overexpressed in Whole Blood (5.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MTMR14 Gene

SOURCE GeneReport for Unigene cluster for MTMR14 Gene Hs.475382

mRNA Expression by UniProt/SwissProt for MTMR14 Gene

Q8NCE2-MTMRE_HUMAN
Tissue specificity: Expressed in various tissues, including heart, skeletal muscle, placenta, liver, lung, kidney and pancreas.
genes like me logo Genes that share expressions with MTMR14: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for MTMR14 Gene

Orthologs for MTMR14 Gene

This gene was present in the common ancestor of animals.

Orthologs for MTMR14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTMR14 35
  • 94.71 (n)
  • 93.2 (a)
MTMR14 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MTMR14 35
  • 91.13 (n)
  • 92.87 (a)
MTMR14 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MTMR14 35
  • 92.53 (n)
  • 93.76 (a)
MTMR14 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mtmr14 35
  • 90.06 (n)
  • 90.75 (a)
Mtmr14 16
Mtmr14 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTMR14 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTMR14 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mtmr14 35
  • 89.95 (n)
  • 91.23 (a)
chicken
(Gallus gallus)
Aves MTMR14 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTMR14 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtmr14 35
  • 71.99 (n)
  • 72.65 (a)
zebrafish
(Danio rerio)
Actinopterygii mtmr14 35
  • 67.88 (n)
  • 68.48 (a)
mtmr14 36
  • 66 (a)
OneToOne
wufc14d11 35
fruit fly
(Drosophila melanogaster)
Insecta EDTP 36
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
OneToOne
Species with no ortholog for MTMR14:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MTMR14 Gene

ENSEMBL:
Gene Tree for MTMR14 (if available)
TreeFam:
Gene Tree for MTMR14 (if available)

Paralogs for MTMR14 Gene

Pseudogenes.org Pseudogenes for MTMR14 Gene

genes like me logo Genes that share paralogs with MTMR14: view

No data available for Paralogs for MTMR14 Gene

Variants for MTMR14 Gene

Sequence variations from dbSNP and Humsavar for MTMR14 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs159142 -- 9,689,184(+) CCCAA(C/G)AGAAG intron-variant
rs159147 -- 9,694,224(-) tacga(C/T)ggaaa intron-variant
rs159148 -- 9,680,651(+) ccatc(C/G)tggct intron-variant
rs159149 -- 9,669,171(+) CCATG(A/G)CCACA intron-variant
rs167147 -- 9,689,514(+) TTCAC(A/C)CTGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MTMR14 Gene

Variant ID Type Subtype PubMed ID
esv269835 CNV Insertion 20981092

Relevant External Links for MTMR14 Gene

HapMap Linkage Disequilibrium report
MTMR14
Human Gene Mutation Database (HGMD)
MTMR14
Locus Specific Mutation Databases (LSDB)
MTMR14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTMR14 Gene

Disorders for MTMR14 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for MTMR14 Gene including...

Search for MTMR14 Gene in MalaCards »

(1) OMIM Diseases for MTMR14 Gene (611089)

UniProtKB/Swiss-Prot

MTMRE_HUMAN
  • Myopathy, centronuclear, 1 (CNM1) [MIM:160150]: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. {ECO:0000269 PubMed:17008356}. Note=The gene represented in this entry may act as a disease modifier. MTMR14 mutations affecting enzymatic function have been found in sporadic cases of centronuclear myopathy, one of them carrying a disease-associated mutation in DNM2 (PubMed:17008356). This raises the possibility of MTMR14 being a modifier of the phenotype in some cases of centronuclear myopathy (PubMed:17008356). {ECO:0000269 PubMed:17008356}.

(1) University of Copenhagen DISEASES for MTMR14 Gene

Relevant External Links for MTMR14

Genetic Association Database (GAD)
MTMR14
Human Genome Epidemiology (HuGE) Navigator
MTMR14
genes like me logo Genes that share disorders with MTMR14: view

Publications for MTMR14 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  2. Protein tyrosine phosphatases in the human genome. (PMID: 15186772) Alonso A. … Mustelin T. (Cell 2004) 2 3
  3. A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. (PMID: 17008356) Tosch V. … Laporte J. (Hum. Mol. Genet. 2006) 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  5. The role of MTMR14 in autophagy and in muscle disease. (PMID: 20595810) Gibbs E.M. … Dowling J.J. (Autophagy 2010) 3

Products for MTMR14 Gene

Sources for MTMR14 Gene

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