Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MTMR7 Gene

Aliases for MTMR7 Gene

  • Myotubularin Related Protein 7 2 3
  • EC 3.1.3.18 63
  • EC 3.1.3.48 63
  • EC 3.1.3.- 4
  • EC 3.1.3 63

External Ids for MTMR7 Gene

Previous GeneCards Identifiers for MTMR7 Gene

  • GC08M017052
  • GC08M017239
  • GC08M017169
  • GC08M017203
  • GC08M015699
  • GC08M017154

Summaries for MTMR7 Gene

Entrez Gene Summary for MTMR7 Gene

  • This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Mar 2009]

GeneCards Summary for MTMR7 Gene

MTMR7 (Myotubularin Related Protein 7) is a Protein Coding gene. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein tyrosine phosphatase activity. An important paralog of this gene is MTMR2.

UniProtKB/Swiss-Prot for MTMR7 Gene

  • Phosphatase that acts on lipids with a phosphoinositol headgroup.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTMR7 Gene

Genomics for MTMR7 Gene

Regulatory Elements for MTMR7 Gene

Genomic Location for MTMR7 Gene

Start:
17,296,797 bp from pter
End:
17,413,531 bp from pter
Size:
116,735 bases
Orientation:
Minus strand

Genomic View for MTMR7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MTMR7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTMR7 Gene

Proteins for MTMR7 Gene

  • Protein details for MTMR7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y216-MTMR7_HUMAN
    Recommended name:
    Myotubularin-related protein 7
    Protein Accession:
    Q9Y216
    Secondary Accessions:
    • A1L4K9
    • B4DG87
    • Q68DX4

    Protein attributes for MTMR7 Gene

    Size:
    660 amino acids
    Molecular mass:
    75833 Da
    Quaternary structure:
    • Interacts with MTMR6, MTMR8 and MTMR9.

    Alternative splice isoforms for MTMR7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTMR7 Gene

Proteomics data for MTMR7 Gene at MOPED

Post-translational modifications for MTMR7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MTMR7 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for MTMR7 Gene

Gene Families for MTMR7 Gene

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

Suggested Antigen Peptide Sequences for MTMR7 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y216

UniProtKB/Swiss-Prot:

MTMR7_HUMAN :
  • Q9Y216
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 MTMR7: view

Function for MTMR7 Gene

Molecular function for MTMR7 Gene

GENATLAS Biochemistry: myotubularin related protein 7,only expressed in brain
UniProtKB/Swiss-Prot Function: Phosphatase that acts on lipids with a phosphoinositol headgroup.

Enzyme Numbers (IUBMB) for MTMR7 Gene

Gene Ontology (GO) - Molecular Function for MTMR7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004725 protein tyrosine phosphatase activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0016791 phosphatase activity --
GO:0052866 phosphatidylinositol phosphate phosphatase activity IEA --
genes like me logo Genes that share ontologies with MTMR7: view

Phenotypes for MTMR7 Gene

GenomeRNAi human phenotypes for MTMR7:
genes like me logo Genes that share phenotypes with MTMR7: view

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for MTMR7 Gene

Localization for MTMR7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTMR7 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MTMR7 Gene COMPARTMENTS Subcellular localization image for MTMR7 gene
Compartment Confidence
cytosol 4
nucleus 1

Gene Ontology (GO) - Cellular Components for MTMR7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MTMR7: view

Pathways for MTMR7 Gene

genes like me logo Genes that share pathways with MTMR7: view

Gene Ontology (GO) - Biological Process for MTMR7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation TAS 9736772
GO:0006644 phospholipid metabolic process TAS --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0016311 dephosphorylation --
GO:0035335 peptidyl-tyrosine dephosphorylation TAS 9736772
genes like me logo Genes that share ontologies with MTMR7: view

Transcripts for MTMR7 Gene

Unigene Clusters for MTMR7 Gene

Myotubularin related protein 7:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MTMR7 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - -
SP2: -
SP3:
SP4: - -

Relevant External Links for MTMR7 Gene

GeneLoc Exon Structure for
MTMR7
ECgene alternative splicing isoforms for
MTMR7

Expression for MTMR7 Gene

mRNA expression in normal human tissues for MTMR7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MTMR7 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (4.9), Brain - Anterior cingulate cortex (BA24) (4.7), and Brain - Cerebellar Hemisphere (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MTMR7 Gene

SOURCE GeneReport for Unigene cluster for MTMR7 Gene Hs.625674

mRNA Expression by UniProt/SwissProt for MTMR7 Gene

Q9Y216-MTMR7_HUMAN
Tissue specificity: Expressed specifically in brain
genes like me logo Genes that share expressions with MTMR7: view

Orthologs for MTMR7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MTMR7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTMR7 35
  • 97.22 (n)
  • 96.52 (a)
MTMR7 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MTMR7 35
  • 90.2 (n)
  • 94.7 (a)
MTMR7 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MTMR7 35
  • 91.72 (n)
  • 96.06 (a)
MTMR7 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mtmr7 35
  • 88.94 (n)
  • 94.55 (a)
Mtmr7 16
Mtmr7 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTMR7 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTMR7 35
  • 79.48 (n)
  • 87.99 (a)
MTMR7 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTMR7 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtmr7 35
  • 74.25 (n)
  • 81.79 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
mtmr7a 35
  • 66.46 (n)
  • 65.58 (a)
mtmr7a 36
  • 65 (a)
OneToMany
mtmr7b 36
  • 66 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG3530 36
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mtm-6 36
  • 34 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YMR1 36
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 49 (a)
OneToMany
Species with no ortholog for MTMR7:
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)

Evolution for MTMR7 Gene

ENSEMBL:
Gene Tree for MTMR7 (if available)
TreeFam:
Gene Tree for MTMR7 (if available)

Paralogs for MTMR7 Gene

Paralogs for MTMR7 Gene

Selected SIMAP similar genes for MTMR7 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with MTMR7: view

Variants for MTMR7 Gene

Sequence variations from dbSNP and Humsavar for MTMR7 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs714346 -- 17,332,204(-) CTCAG(C/T)GTAGG intron-variant
rs720800 -- 17,354,624(-) TGTCG(A/G)TGGTG intron-variant
rs725947 -- 17,387,210(-) CTGGG(A/T)TATCT intron-variant
rs725948 -- 17,387,403(-) CCTGG(G/T)TCTGT intron-variant
rs725949 -- 17,387,002(-) TGAAC(A/G)GAGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MTMR7 Gene

Variant ID Type Subtype PubMed ID
nsv831245 CNV Gain 17160897
nsv890556 CNV Loss 21882294
nsv518761 CNV Loss 19592680
nsv890557 CNV Loss 21882294
nsv465588 CNV Loss 19166990
esv270628 CNV Insertion 20981092
esv272688 CNV Insertion 20981092
nsv470200 CNV Loss 18288195
nsv465589 CNV Loss 19166990
nsv465590 CNV Loss 19166990
esv6536 OTHER Inversion 19470904
nsv6097 CNV Insertion 18451855
esv4778 CNV Deletion 18987735
esv2736687 CNV Deletion 23290073
esv8254 CNV Loss 19470904
nsv396808 CNV Loss 16902084

Relevant External Links for MTMR7 Gene

HapMap Linkage Disequilibrium report
MTMR7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTMR7 Gene

Disorders for MTMR7 Gene

Relevant External Links for MTMR7

Genetic Association Database (GAD)
MTMR7
Human Genome Epidemiology (HuGE) Navigator
MTMR7
genes like me logo Genes that share disorders with MTMR7: view

No data available for UniProtKB/Swiss-Prot for MTMR7 Gene

Publications for MTMR7 Gene

  1. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. (PMID: 9736772) Laporte J. … Mandel J.-L. (Hum. Mol. Genet. 1998) 2 3 4
  2. Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9. (PMID: 12890864) Mochizuki Y. … Majerus P.W. (Proc. Natl. Acad. Sci. U.S.A. 2003) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 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. Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk. (PMID: 22137330) Sanchez-Juan P. … van Duijn C.M. (Neurobiol. Aging 2012) 3 48

Products for MTMR7 Gene

Sources for MTMR7 Gene

Back to Top

Content