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... See more...

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
  • Myotubularin-Related Protein 14 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
  • 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
  • GC03P009691

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, 1 and Centronuclear Myopathy. Among its related pathways are superpathway of inositol phosphate compounds and Autophagy - animal. Gene Ontology (GO) annotations related to this gene include protein tyrosine phosphatase activity and phosphatidylinositol-3-phosphatase activity.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for MTMR14 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTMR14 Gene

Genomics for MTMR14 Gene

GeneHancer (GH) Regulatory Elements for MTMR14 Gene

Promoters and enhancers for MTMR14 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J009648 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.6 584 2.6 FOXK2 ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 USF1 POLR2G SP1 MTMR14 RF00017-3904 MG828730-044
GH03J009889 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 13.3 +241.4 241385 2.4 ZBTB40 ZNF217 EP300 NRF1 TCF12 POLR2G GTF2E2 PHF8 PHB2 ZFX JAGN1 CIDEC BRPF1 RAD18 SETD5 TTLL3 GHRLOS BRK1 FANCD2 SEC13
GH03J009670 Enhancer 0.7 Ensembl ENCODE 12 +21.0 20967 1.2 NR2F2 JUND RAD21 USF2 RXRA HNF4A REST YY1 SP1 GABPA RF00017-3904 MTMR14 ARPC4 ARPC4-TTLL3 TADA3 lnc-CPNE9-2 MG828730-044
GH03J009339 Enhancer 0.8 Ensembl ENCODE 9.7 -308.6 -308632 3.2 EP300 JUND FOS ZIC2 CUX1 FOSL2 NFE2 FOSL1 NR2F1 PKNOX1 SRGAP3 THUMPD3 ENSG00000254485 THUMPD3-AS1 RAD18 MTMR14 ENSG00000199815 ARPC4 ARPC4-TTLL3 TADA3
GH03J009497 Enhancer 0.7 Ensembl ENCODE 10.3 -151.3 -151332 2.2 FOS NR2F1 EGR1 PRDM10 NR2F6 CREM JUND GATA3 MNT EGR2 lnc-LHFPL4-2 SRGAP3 MTMR14 NONHSAG034376.2 LHFPL4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTMR14 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTMR14

Top Transcription factor binding sites by QIAGEN in the MTMR14 gene promoter:
  • Bach1
  • FOXO1
  • FOXO1a
  • Gfi-1
  • N-Myc
  • NRSF form 1
  • NRSF form 2
  • Pax-6
  • STAT3
  • ZIC2

Genomic Locations for MTMR14 Gene

Genomic Locations for MTMR14 Gene
chr3:9,649,433-9,702,394
(GRCh38/hg38)
Size:
52,962 bases
Orientation:
Plus strand
chr3:9,691,117-9,744,078
(GRCh37/hg19)
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

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

No data available for DME Specific Peptides for MTMR14 Gene

Domains & Families for MTMR14 Gene

Gene Families for MTMR14 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MTMR14 Gene

Suggested Antigen Peptide Sequences for MTMR14 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52857 (B4DJ23_HUMAN)
  • cDNA FLJ60797 (B4DQK9_HUMAN)
  • hJumpy (MTMRE_HUMAN)

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

Phenotypes From GWAS Catalog 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 IEA,IDA 17008356
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

Human Phenotype Ontology for MTMR14 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MTMR14 Gene

MGI Knock Outs for MTMR14:

Animal Model Products

  • Taconic Biosciences Mouse Models for MTMR14

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTMR14

Clone Products

No data available for 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 4
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MTMR14 Gene

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: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
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with MTMR14: view

Transcripts for MTMR14 Gene

mRNA/cDNA for MTMR14 Gene

3 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTMR14

Clone 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

Expression for MTMR14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for MTMR14 Gene



Protein tissue co-expression partners for MTMR14 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(2.5)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
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

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 31 30
  • 94.71 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MTMR14 31 30
  • 92.53 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MTMR14 31 30
  • 91.13 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mtmr14 17 31 30
  • 90.06 (n)
rat
(Rattus norvegicus)
Mammalia Mtmr14 30
  • 89.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MTMR14 31
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTMR14 31
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTMR14 31
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTMR14 31
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtmr14 30
  • 71.99 (n)
zebrafish
(Danio rerio)
Actinopterygii mtmr14 31 30
  • 67.88 (n)
OneToOne
wufc14d11 30
fruit fly
(Drosophila melanogaster)
Insecta EDTP 31
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MTMR14: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTMR14 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
701957 Benign: not provided 9,689,035(+) T/C SYNONYMOUS_VARIANT
702028 Benign: not provided 9,684,962(+) C/T SYNONYMOUS_VARIANT
702177 Likely Benign: not provided 9,669,457(+) T/A MISSENSE_VARIANT
703240 Benign: not provided 9,649,649(+) G/A SYNONYMOUS_VARIANT
706580 Likely Benign: not provided 9,684,592(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for MTMR14 Gene

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)

Additional Variant Information 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

(10) MalaCards diseases for MTMR14 Gene - From: UniProtKB/Swiss-Prot, OMIM, GTR, Orphanet, DISEASES, and GeneCards

- 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}.

Additional Disease Information for MTMR14

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  2. A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. (PMID: 17008356) Tosch V … Laporte J (Human molecular genetics 2006) 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. Protein tyrosine phosphatases in the human genome. (PMID: 15186772) Alonso A … Mustelin T (Cell 2004) 2 3 54
  5. Knockdown MTMR14 promotes cell apoptosis and inhibits migration in liver cancer cells. (PMID: 30586604) Li Z … Li X (Gene 2019) 3 54

Products for MTMR14 Gene

Sources for MTMR14 Gene