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Aliases for MTMR7 Gene

Aliases for MTMR7 Gene

  • Myotubularin Related Protein 7 2 3 5
  • EC 3.1.3.18 61
  • EC 3.1.3.48 61
  • EC 3.1.3.- 4
  • EC 3.1.3 61

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 PI Metabolism. GO annotations related to this gene include phosphatase activity and phosphatidylinositol phosphate phosphatase activity. An important paralog of this gene is MTMR6.

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

Enhancers for MTMR7 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
GH08F017607 1.1 FANTOM5 Ensembl ENCODE 11.4 -196.5 -196508 4.8 SIN3A FEZF1 ZNF2 YY1 ZNF121 FOS DEK TSHZ1 PPARG MIER3 MTUS1 MTMR7 PDGFRL LOC105379299 ENSG00000277466 MIR548V
GH08F017501 0.4 Ensembl 10.7 -87.6 -87570 0.2 ZFP3 MTMR7 ENSG00000279903 GC08M017429
GH08F017502 0.2 ENCODE 10.7 -88.3 -88276 0.2 SP7 MTMR7 ENSG00000279903 GC08M017429
GH08F017410 0.7 ENCODE 7.9 +2.4 2359 1.6 SMARCA4 ZNF600 MTMR7 GC08M017304
GH08F017412 1.1 ENCODE 7.2 +0.1 108 1.4 ZNF133 KLF17 ZNF2 ZNF121 GLIS2 ZNF366 SCRT2 KLF7 EGR2 ZNF263 MTMR7 SLC7A2 GC08M017304
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MTMR7 on UCSC Golden Path with GeneCards custom track

Promoters for MTMR7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001386694 -169 1000 ZNF133 KLF17 ZNF2 ZNF121 GLIS2 ZNF366 SCRT2 KLF7 EGR2 ZNF263
ENSR00001898929 631 201 ZNF263 ZNF146 ZNF223 ZBTB8A ZEB2 PRDM2 HIC1 ZNF121 ZNF366 POLR2A

Genomic Location for MTMR7 Gene

Chromosome:
8
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

Genes around MTMR7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTMR7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for MTMR7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MTMR7 Gene

Domains & Families for MTMR7 Gene

Gene Families for MTMR7 Gene

Suggested Antigen Peptide Sequences for MTMR7 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y216

UniProtKB/Swiss-Prot:

MTMR7_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 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:0004438 phosphatidylinositol-3-phosphatase activity TAS --
GO:0004725 protein tyrosine phosphatase activity IEA,TAS --
GO:0005515 protein binding IPI 25416956
GO:0016787 hydrolase activity IEA --
GO:0016791 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

Animal Model Products

  • Taconic Biosciences Mouse Models for MTMR7

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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 5

Gene Ontology (GO) - Cellular Components for MTMR7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MTMR7: view

Pathways & Interactions 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:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0016311 dephosphorylation IEA --
GO:0035335 peptidyl-tyrosine dephosphorylation IEA --
GO:0046855 inositol phosphate dephosphorylation IEA --
genes like me logo Genes that share ontologies with MTMR7: view

No data available for SIGNOR curated interactions for MTMR7 Gene

Drugs & Compounds for MTMR7 Gene

(3) Drugs for MTMR7 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
NAD Pharma Full agonist, Agonist 0

(5) Additional Compounds for MTMR7 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Beta-D-Fructose 2-phosphate
  • beta-D-Fructofuranose 2-phosphate
  • beta-D-Fructose 2-phosphate
D-Fructose
  • beta-D-Arabino-hexulose
  • beta-D-Fructofuranose
  • beta-D-Fructose
  • beta-delta-Arabino-hexulose
  • beta-delta-Fructofuranose
53188-23-1
N-Acetyl-D-mannosamine 6-phosphate
  • ManNAc-6-P
  • N-Acetyl-D-mannosamine 6-phosphate
  • N-Acetyl-D-mannosamine-6-P
  • N-Acetyl-D-mannosamine-6-phosphate
  • N-Acetylmannosamine-6-P
873185-52-5
N-Acetylmannosamine
  • 2-Acetamido-2-deoxy-D-mannopyranose
  • 2-Acetamido-2-deoxy-D-mannose
  • ManNAc
  • N-Acetyl-D-mannosamine
  • N-Acetylmannosamine
3615-17-6
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
genes like me logo Genes that share compounds with MTMR7: view

Transcripts for MTMR7 Gene

Unigene Clusters for MTMR7 Gene

Myotubularin related protein 7:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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) (x4.9), Brain - Anterior cingulate cortex (BA24) (x4.7), and Brain - Cerebellar Hemisphere (x4.6).

Protein differential expression in normal tissues from HIPED for MTMR7 Gene

This gene is overexpressed in Retina (31.3), Frontal cortex (26.6), and Fetal Brain (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MTMR7 Gene



Protein tissue co-expression partners for MTMR7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MTMR7 Gene:

MTMR7

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 expression patterns with MTMR7: view

Primer Products

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 34 35
  • 97.22 (n)
dog
(Canis familiaris)
Mammalia MTMR7 34 35
  • 91.72 (n)
cow
(Bos Taurus)
Mammalia MTMR7 34 35
  • 90.2 (n)
mouse
(Mus musculus)
Mammalia Mtmr7 34 16 35
  • 88.94 (n)
oppossum
(Monodelphis domestica)
Mammalia MTMR7 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTMR7 34 35
  • 79.48 (n)
lizard
(Anolis carolinensis)
Reptilia MTMR7 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtmr7 34
  • 74.25 (n)
zebrafish
(Danio rerio)
Actinopterygii mtmr7a 34 35
  • 66.46 (n)
mtmr7b 35
  • 66 (a)
OneToMany
-- 34
fruit fly
(Drosophila melanogaster)
Insecta CG3530 35
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mtm-6 35
  • 34 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YMR1 35
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 49 (a)
OneToMany
Species where no ortholog for MTMR7 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)
  • 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

(6) 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
rs1002810 -- 17,400,211(-) TTCAG(A/G)ATTTT intron-variant
rs1003298 -- 17,410,818(+) ATTGT(A/G)ACAGA intron-variant
rs1003299 -- 17,412,124(+) AATTT(A/G)CTGTC intron-variant
rs10086660 -- 17,353,734(+) TGGAT(C/T)AGTCA intron-variant
rs10087359 -- 17,400,648(+) TAGAC(C/G)GGTTT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2736687 CNV deletion 23290073
esv2762734 CNV loss 21179565
esv3543154 CNV deletion 23714750
esv3616483 CNV loss 21293372
esv4778 CNV loss 18987735
esv6536 OTHER inversion 19470904
esv8254 CNV loss 19470904
nsv1019965 CNV gain 25217958
nsv1025469 CNV gain 25217958
nsv1073794 CNV deletion 25765185
nsv1137349 CNV deletion 24896259
nsv396808 CNV deletion 16902084
nsv465588 CNV loss 19166990
nsv465589 CNV loss 19166990
nsv465590 CNV loss 19166990
nsv470200 CNV loss 18288195
nsv518761 CNV loss 19592680
nsv6097 CNV insertion 18451855
nsv610675 CNV loss 21841781
nsv610676 CNV loss 21841781
nsv610677 CNV loss 21841781
nsv610678 CNV loss 21841781
nsv610679 CNV loss 21841781
nsv831245 CNV gain 17160897
nsv956050 CNV deletion 24416366

Variation tolerance for MTMR7 Gene

Residual Variation Intolerance Score: 2.76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.47; 71.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MTMR7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTMR7

No disorders were found for MTMR7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 64
  2. Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk. (PMID: 22137330) Sanchez-Juan P. … van Duijn C.M. (Neurobiol. Aging 2012) 3 46 64
  3. 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
  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. 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 64

Products for MTMR7 Gene

Sources for MTMR7 Gene

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