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Aliases for MTMR10 Gene

Aliases for MTMR10 Gene

  • Myotubularin Related Protein 10 2 3 5

External Ids for MTMR10 Gene

Previous GeneCards Identifiers for MTMR10 Gene

  • GC15M029019
  • GC15M031231
  • GC15M008408

Summaries for MTMR10 Gene

GeneCards Summary for MTMR10 Gene

MTMR10 (Myotubularin Related Protein 10) is a Protein Coding gene. Diseases associated with MTMR10 include Chromosome 15Q13.3 Deletion Syndrome and Congenital Stationary Night Blindness. Gene Ontology (GO) annotations related to this gene include phosphatase activity. An important paralog of this gene is MTMR12.

UniProtKB/Swiss-Prot for MTMR10 Gene

  • Probable pseudophosphatase. Contains a Glu residue instead of a conserved Cys residue in the dsPTPase catalytic loop which renders it catalytically inactive as a phosphatase (Potential).

Additional gene information for MTMR10 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTMR10 Gene

Genomics for MTMR10 Gene

GeneHancer (GH) Regulatory Elements for MTMR10 Gene

Promoters and enhancers for MTMR10 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
GH15I030988 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 563.9 +1.0 1003 4.8 PKNOX1 FOXA2 ARID4B SIN3A YY1 POLR2B ZNF207 ZNF143 REST ZNF592 MTMR10 HERC2P10 TRPM1 RNU6-466P FAN1 ENSG00000260382 ENSG00000215302 GC15M030957
GH15I030903 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.9 +87.5 87529 1.8 HDGF PKNOX1 SMAD1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B FAN1 HERC2P10 RNU6-466P MTMR10 PIR52520
GH15I031261 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -273.9 -273910 9 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B IRF4 YY1 ZNF207 ZNF143 KLF13 ENSG00000270055 ENSG00000269930 MTMR10 CHRFAM7A LOC283710
GH15I030962 Enhancer 0.7 ENCODE dbSUPER 25.4 +29.1 29053 1.2 POLR2A BCL6B SCRT2 PRDM10 MTMR10 FAN1 TRPM1 GC15M030957
GH15I031323 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.6 -336.9 -336909 10 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF766 ZNF143 ZNF207 FOS KLF13 PIR43234 MTMR10 ENSG00000269930
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MTMR10 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MTMR10 gene promoter:

Genomic Locations for MTMR10 Gene

Genomic Locations for MTMR10 Gene
chr15:30,919,764-30,991,607
(GRCh38/hg38)
Size:
71,844 bases
Orientation:
Minus strand
chr15:31,231,144-31,283,810
(GRCh37/hg19)

Genomic View for MTMR10 Gene

Genes around MTMR10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTMR10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTMR10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTMR10 Gene

Proteins for MTMR10 Gene

  • Protein details for MTMR10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NXD2-MTMRA_HUMAN
    Recommended name:
    Myotubularin-related protein 10
    Protein Accession:
    Q9NXD2
    Secondary Accessions:
    • Q6P4Q6

    Protein attributes for MTMR10 Gene

    Size:
    777 amino acids
    Molecular mass:
    88273 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MTMR10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTMR10 Gene

Post-translational modifications for MTMR10 Gene

No Post-translational modifications

No data available for DME Specific Peptides for MTMR10 Gene

Domains & Families for MTMR10 Gene

Gene Families for MTMR10 Gene

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

Graphical View of Domain Structure for InterPro Entry

Q9NXD2

UniProtKB/Swiss-Prot:

MTMRA_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 MTMR10: view

Function for MTMR10 Gene

Molecular function for MTMR10 Gene

UniProtKB/Swiss-Prot Function:
Probable pseudophosphatase. Contains a Glu residue instead of a conserved Cys residue in the dsPTPase catalytic loop which renders it catalytically inactive as a phosphatase (Potential).

Phenotypes From GWAS Catalog for MTMR10 Gene

genes like me logo Genes that share phenotypes with MTMR10: view

Animal Model Products

miRNA for MTMR10 Gene

miRTarBase miRNAs that target MTMR10

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MTMR10 Gene

Localization for MTMR10 Gene

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 MTMR10 gene
Compartment Confidence
cytosol 5
nucleus 4
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MTMR10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 16787938
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MTMR10: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MTMR10 Gene

Pathways & Interactions for MTMR10 Gene

SuperPathways for MTMR10 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MTMR10 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for MTMR10 Gene

Drugs & Compounds for MTMR10 Gene

No Compound Related Data Available

Transcripts for MTMR10 Gene

Unigene Clusters for MTMR10 Gene

Myotubularin related protein 10:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTMR10 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17
SP1: - - -
SP2:
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8: - -
SP9: - -

Relevant External Links for MTMR10 Gene

GeneLoc Exon Structure for
MTMR10
ECgene alternative splicing isoforms for
MTMR10

Expression for MTMR10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MTMR10 Gene

mRNA differential expression in normal tissues according to GTEx for MTMR10 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x5.3).

Protein differential expression in normal tissues from HIPED for MTMR10 Gene

This gene is overexpressed in Brain (31.0), Placenta (12.5), Spinal cord (8.2), and Breast (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MTMR10 Gene



NURSA nuclear receptor signaling pathways regulating expression of MTMR10 Gene:

MTMR10

SOURCE GeneReport for Unigene cluster for MTMR10 Gene:

Hs.30141

Evidence on tissue expression from TISSUES for MTMR10 Gene

  • Nervous system(4.6)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with MTMR10: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTMR10 Gene

Orthologs for MTMR10 Gene

This gene was present in the common ancestor of animals.

Orthologs for MTMR10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTMR10 33 34
  • 99.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MTMR10 34
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MTMR10 33 34
  • 88.79 (n)
rat
(Rattus norvegicus)
Mammalia Mtmr10 33
  • 87.98 (n)
mouse
(Mus musculus)
Mammalia Mtmr10 33 16 34
  • 87.94 (n)
oppossum
(Monodelphis domestica)
Mammalia MTMR10 34
  • 86 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MTMR10 33 34
  • 83.51 (n)
chicken
(Gallus gallus)
Aves MTMR10 33 34
  • 78.16 (n)
lizard
(Anolis carolinensis)
Reptilia MTMR10 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtmr10 33
  • 71.52 (n)
zebrafish
(Danio rerio)
Actinopterygii mtmr10 33 34
  • 63.81 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010275 33
  • 46.09 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG14411 33 34
  • 43.37 (n)
Species where no ortholog for MTMR10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 MTMR10 Gene

ENSEMBL:
Gene Tree for MTMR10 (if available)
TreeFam:
Gene Tree for MTMR10 (if available)

Paralogs for MTMR10 Gene

Paralogs for MTMR10 Gene

(4) SIMAP similar genes for MTMR10 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with MTMR10: view

Variants for MTMR10 Gene

Sequence variations from dbSNP and Humsavar for MTMR10 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs387907279 pathogenic, Interstitial nephritis, karyomegalic 30,925,199(-) C/G/T genic_downstream_transcript_variant, intron_variant
rs387907280 pathogenic, Interstitial nephritis, karyomegalic 30,930,564(-) G/A/C/T genic_downstream_transcript_variant, intron_variant
rs750056424 pathogenic, Interstitial nephritis, karyomegalic 30,929,226(-) A/ genic_downstream_transcript_variant, intron_variant
rs2955795 benign, not specified 30,937,217(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000095669 -- 30,982,694(-) TAAGT/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MTMR10 Gene

Variant ID Type Subtype PubMed ID
nsv832952 CNV gain+loss 17160897
nsv832951 CNV loss 17160897
nsv525795 CNV gain 19592680
nsv521842 CNV gain 19592680
nsv1046874 CNV gain 25217958
esv3636041 CNV loss 21293372
esv3636036 CNV gain 21293372
esv3569376 CNV gain 25503493
esv3353214 CNV insertion 20981092
esv33507 CNV loss 17666407
esv3329471 CNV insertion 20981092
esv3309096 CNV mobile element insertion 20981092
esv3307615 CNV mobile element insertion 20981092
esv2670722 CNV deletion 23128226

Variation tolerance for MTMR10 Gene

Residual Variation Intolerance Score: 83.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.33; 70.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTMR10 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTMR10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTMR10 Gene

Disorders for MTMR10 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MTMR10 Gene - From: DISEASES

Disorder Aliases PubMed IDs
chromosome 15q13.3 deletion syndrome
  • chromosome 15q13.3 microdeletion syndrome
congenital stationary night blindness
  • congenital essential nyctalopia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MTMR10

genes like me logo Genes that share disorders with MTMR10: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MTMR10 Gene

Publications for MTMR10 Gene

  1. PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease. (PMID: 12495846) Wishart MJ … Dixon JE (Trends in cell biology 2002) 2 3 58
  2. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. (PMID: 28065597) Yao Z … Stagljar I (Molecular cell 2017) 3 58
  3. Phenotypic and Interaction Profiling of the Human Phosphatases Identifies Diverse Mitotic Regulators. (PMID: 27880917) St-Denis N … Gingras AC (Cell reports 2016) 3 58
  4. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. (PMID: 27432908) Li X … Wang W (Molecular & cellular proteomics : MCP 2016) 3 58
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 58

Products for MTMR10 Gene

Sources for MTMR10 Gene

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