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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 Microdeletion Syndrome and Congenital Stationary Night Blindness. GO annotations related to this gene include phosphatase activity. An important paralog of this gene is MTMR2.

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).

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

Genomics for MTMR10 Gene

Regulatory Elements for MTMR10 Gene

Enhancers for MTMR10 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MTMR10 on UCSC Golden Path with GeneCards custom track

Promoters for MTMR10 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MTMR10 on UCSC Golden Path with GeneCards custom track

Genomic Location for MTMR10 Gene

Chromosome:
15
Start:
30,919,764 bp from pter
End:
30,991,607 bp from pter
Size:
71,844 bases
Orientation:
Minus strand

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

Proteomics data for MTMR10 Gene at MOPED

Post-translational modifications for MTMR10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MTMR10 Gene

No data available for DME Specific Peptides for MTMR10 Gene

Domains & Families for MTMR10 Gene

Gene Families for MTMR10 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NXD2

UniProtKB/Swiss-Prot:

MTMRA_HUMAN :
  • Contains 1 myotubularin phosphatase domain.
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
Domain:
  • Contains 1 myotubularin phosphatase domain.
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).
genes like me logo Genes that share phenotypes with MTMR10: view

Animal Model Products

CRISPR Products

miRNA for MTMR10 Gene

miRTarBase miRNAs that target MTMR10

Inhibitory RNA Products

Flow Cytometry 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
Jensen Localization Image for MTMR10 Gene COMPARTMENTS Subcellular localization image for MTMR10 gene
Compartment Confidence
nucleus 4
cytosol 3
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MTMR10 Gene

Pathways & Interactions for MTMR10 Gene

SuperPathways for MTMR10 Gene

No Data Available

Interacting Proteins for MTMR10 Gene

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:

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 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, MOPED, and MaxQB for MTMR10 Gene



SOURCE GeneReport for Unigene cluster for MTMR10 Gene Hs.30141

genes like me logo Genes that share expression patterns with MTMR10: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia MTMR10 35
  • 83.51 (n)
  • 89.14 (a)
MTMR10 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MTMR10 35
  • 88.79 (n)
  • 92.31 (a)
MTMR10 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mtmr10 35
  • 87.94 (n)
  • 92.61 (a)
Mtmr10 16
Mtmr10 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MTMR10 35
  • 99.57 (n)
  • 99.74 (a)
MTMR10 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mtmr10 35
  • 87.98 (n)
  • 92.87 (a)
oppossum
(Monodelphis domestica)
Mammalia MTMR10 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTMR10 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTMR10 35
  • 78.16 (n)
  • 84.69 (a)
MTMR10 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTMR10 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtmr10 35
  • 71.52 (n)
  • 77.17 (a)
zebrafish
(Danio rerio)
Actinopterygii mtmr10 35
  • 63.81 (n)
  • 63.19 (a)
mtmr10 36
  • 63 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010275 35
  • 46.09 (n)
  • 35.85 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG14411 35
  • 43.37 (n)
  • 34.6 (a)
CG14411 36
  • 26 (a)
OneToMany
Species with no ortholog for MTMR10:
  • 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 Sequence Context AA Info Type
VAR_047539 -
rs6493358 -- 30,949,438(+) atatg(A/C)tcctg intron-variant
rs6493360 -- 30,955,560(+) ccacc(A/G)cgccc intron-variant
rs11858971 -- 30,965,801(+) AAATA(C/T)CATTT intron-variant
rs872843 -- 30,956,553(+) TCTAG(A/G)CAGAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv525795 CNV Gain 19592680
nsv903831 CNV Gain 21882294
nsv832951 CNV Loss 17160897
nsv521842 CNV Gain 19592680
nsv903834 CNV Gain 21882294
esv33507 CNV Loss 17666407
nsv832952 CNV Gain+Loss 17160897
esv2670722 CNV Deletion 23128226
esv273369 CNV Insertion 20981092
esv271889 CNV Insertion 20981092

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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 microdeletion syndrome
  • 15q13.3 microdeletion syndrome
congenital stationary night blindness
  • congenital essential nyctalopia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MTMR10

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 M.J. … Dixon J.E. (Trends Cell Biol. 2002) 2 3 67
  2. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  3. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 3
  4. Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. (PMID: 23505323) Weissglas-Volkov D. … Pajukanta P. (J. Med. Genet. 2013) 3
  5. The LIFEdb database in 2006. (PMID: 16381901) Mehrle A. … Wiemann S. (Nucleic Acids Res. 2006) 3

Products for MTMR10 Gene

Sources for MTMR10 Gene

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