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Aliases for MTMR14 Gene

Aliases for MTMR14 Gene

  • Myotubularin Related Protein 14 2 3 5
  • HCV NS5A-Transactivated Protein 4 Splice Variant A-Binding Protein 1 3 4
  • NS5ATP4ABP1 3 4
  • C3orf29 3 4
  • 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
  • HJumpy 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 and Asphyxia Neonatorum. Among its related pathways are Inositol phosphate metabolism (KEGG) and 3-phosphoinositide degradation. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTMR14 Gene

Genomics for MTMR14 Gene

Regulatory Elements for MTMR14 Gene

Enhancers for MTMR14 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G009339 1 Ensembl ENCODE 9.7 -308.9 -308893 1.8 PKNOX1 JUN ZNF384 CHD7 ZIC2 FOSL1 GATA3 GATA2 FOSL2 NFE2 SRGAP3 THUMPD3 ENSG00000254485 RAD18 MTMR14 ENSG00000199815 ARPC4 ARPC4-TTLL3 TADA3 THUMPD3-AS1
GH03G009670 0.6 ENCODE 12 +20.9 20869 0.1 JUND USF2 HNF4A RAD21 NR2F2 GABPA YY1 MTMR14 ARPC4 ARPC4-TTLL3 TADA3 CPNE9
GH03G009680 0.6 ENCODE 11.5 +32.4 32371 1.6 ZFP3 POLR2A HNF4A SMAD4 ZNF24 TEAD3 CPNE9 MTMR14 BRPF1 ARPC4 ARPC4-TTLL3 TADA3
GH03G009409 1.6 FANTOM5 Ensembl ENCODE dbSUPER 3.4 -239.0 -239048 1.7 HDAC1 ATF1 ARNT PAF1 ZNF362 CEBPB ZEB2 ZNF592 RAD51 PRDM6 SRGAP3 SETD5 THUMPD3-AS1 MTMR14 GC03P009403 GC03M009409
GH03G009497 0.5 ENCODE 10.3 -151.1 -151091 0.8 GATA3 JUND MNT FOS SRGAP3 MTMR14 GC03M009538 GC03M009409
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MTMR14 on UCSC Golden Path with GeneCards custom track

Promoters for MTMR14 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000148295 267 1401 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT ARID4B SIN3A ZNF2 ZNF143

Genomic Location for MTMR14 Gene

Chromosome:
3
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

Genes around MTMR14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTMR14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for MTMR14 Gene

  • Ubiquitination at Lys409
  • Glycosylation at Asn226 and posLast=519519
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MTMR14 Gene

Domains & Families for MTMR14 Gene

Gene Families for MTMR14 Gene

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 :
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
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 TAS --
GO:0004722 protein serine/threonine phosphatase activity TAS --
GO:0004725 protein tyrosine phosphatase activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0016787 hydrolase activity IEA --
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

  • Taconic Biosciences Mouse Models for MTMR14

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTMR14 gene
Compartment Confidence
cytosol 5
nucleus 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MTMR14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IDA 17008356
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0048471 perinuclear region of cytoplasm IDA 17008356
genes like me logo Genes that share ontologies with MTMR14: view

Pathways & Interactions 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:0006470 protein dephosphorylation IEA --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0016236 macroautophagy TAS --
GO:0016311 dephosphorylation IEA --
GO:0035335 peptidyl-tyrosine dephosphorylation IEA --
genes like me logo Genes that share ontologies with MTMR14: view

No data available for SIGNOR curated interactions for MTMR14 Gene

Drugs & Compounds for MTMR14 Gene

(1) Additional Compounds for MTMR14 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
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:

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for MTMR14 Gene

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

This gene is overexpressed in Whole Blood (x5.7).

Protein differential expression in normal tissues from HIPED for MTMR14 Gene

This gene is overexpressed in Breast (25.1), Peripheral blood mononuclear cells (18.5), and Blymphocyte (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MTMR14 Gene



Protein tissue co-expression partners for MTMR14 Gene

NURSA nuclear receptor signaling pathways regulating expression of MTMR14 Gene:

MTMR14

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.

Evidence on tissue expression from TISSUES for MTMR14 Gene

  • Nervous system(4.8)
  • Kidney(4.3)
  • Liver(4.3)
  • Muscle(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MTMR14 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • mouth
  • tongue
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with MTMR14: view

Primer 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 34 35
  • 94.71 (n)
dog
(Canis familiaris)
Mammalia MTMR14 34 35
  • 92.53 (n)
cow
(Bos Taurus)
Mammalia MTMR14 34 35
  • 91.13 (n)
mouse
(Mus musculus)
Mammalia Mtmr14 34 16 35
  • 90.06 (n)
rat
(Rattus norvegicus)
Mammalia Mtmr14 34
  • 89.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MTMR14 35
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTMR14 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTMR14 35
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTMR14 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtmr14 34
  • 71.99 (n)
zebrafish
(Danio rerio)
Actinopterygii mtmr14 34 35
  • 67.88 (n)
wufc14d11 34
fruit fly
(Drosophila melanogaster)
Insecta EDTP 35
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
OneToOne
Species where no ortholog for MTMR14 was found in the sources mined by GeneCards:
  • 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
rs121434509 other, Myopathy, centronuclear, 1 (CNM1) [MIM:160150] 9,684,627(+) GGATC(A/G)GACCC nc-transcript-variant, reference, missense
rs121434510 other, Myopathy, centronuclear, 1 (CNM1) [MIM:160150] 9,689,034(+) CACCT(A/G)TGAGG nc-transcript-variant, reference, missense
rs115607360 Likely benign 9,685,234(+) GCTCA(A/G)CAAAG nc-transcript-variant, reference, missense
rs183134138 Likely benign 9,684,904(+) CCACA(C/T)GTCCC nc-transcript-variant, reference, missense
rs9880613 Likely benign 9,671,060(+) GACAC(A/C/G/T)CATCT nc-transcript-variant, reference, synonymous-codon, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv3305558 CNV mobile element insertion 20981092
esv3401301 CNV insertion 20981092
nsv1008805 CNV gain 25217958
nsv1010768 CNV gain 25217958
nsv589647 CNV loss 21841781

Variation tolerance for MTMR14 Gene

Residual Variation Intolerance Score: 9.18% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.15; 39.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MTMR14 Gene

Human Gene Mutation Database (HGMD)
MTMR14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTMR14

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

Disorders for MTMR14 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MTMR14 Gene - From: OMIM, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myopathy, centronuclear
  • centronuclear myopathy, autosomal, modifier of
asphyxia neonatorum
  • asphyxia - birth
myopathy
  • muscular diseases
- elite association - COSMIC cancer census association via MalaCards

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}.

Relevant External Links for MTMR14

Genetic Association Database (GAD)
MTMR14
Human Genome Epidemiology (HuGE) Navigator
MTMR14
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTMR14
genes like me logo Genes that share disorders with MTMR14: view

No data available for Genatlas for MTMR14 Gene

Publications for MTMR14 Gene

  1. 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 46 64
  2. 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 64
  3. Protein tyrosine phosphatases in the human genome. (PMID: 15186772) Alonso A. … Mustelin T. (Cell 2004) 2 3 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Widespread macromolecular interaction perturbations in human genetic disorders. (PMID: 25910212) Sahni N. … Vidal M. (Cell 2015) 3 64

Products for MTMR14 Gene

Sources for MTMR14 Gene

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