MTMR7 Gene (Protein Coding)

Myotubularin Related Protein 7

GC08M017296
GIFtS:
38
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-... See more...

Aliases for MTMR7 Gene

Aliases for MTMR7 Gene

  • Myotubularin Related Protein 7 2 3 5
  • Phosphatidylinositol-3-Phosphate Phosphatase 3 4
  • Inositol 1,3-Bisphosphate Phosphatase 3 4
  • Myotubularin-Related Protein 7 3 4
  • EC 3.1.3.18 51
  • EC 3.1.3.48 51
  • EC 3.1.3.64 4
  • EC 3.1.3.- 4
  • EC 3.1.3 51
  • MTMR7 5

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. Diseases associated with MTMR7 include Parkinson Disease 20, Early-Onset and Generalized Epilepsy With Febrile Seizures Plus, Type 4. Among its related pathways are PI Metabolism and superpathway of inositol phosphate compounds. Gene Ontology (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 Summary for MTMR7 Gene

  • Phosphatase that specifically dephosphorylates phosphatidylinositol 3-phosphate (PtdIns(3)P) and inositol 1,3-bisphosphate (Ins(1,3)P2).

Additional gene information for MTMR7 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTMR7 Gene

Genomics for MTMR7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MTMR7 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
GH08J017412 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 257.1 +0.2 227 1.8 ZIC2 SIN3A KLF7 ZNF341 KLF9 YY1 SP2 ZSCAN5A ZNF2 ZSCAN23 MTMR7 lnc-SLC7A2-2 lnc-MTMR7-1 SLC7A2 RF00017-6857 HSALNG0063663 VPS37A
GH08J017921 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 14.6 -511.9 -511894 8.1 CHD2 TBP ZBTB10 SP1 MXD4 CEBPA SIX5 NR2C1 MNT IKZF1 PCM1 LOC101930275 MTMR7 MTUS1 ENSG00000249258 ENSG00000253384 CNOT7 ASAH1 FGL1 SLC7A2
GH08J017245 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 14.6 +166.3 166327 4 TBP SP1 MXD4 CEBPA MNT IKZF1 SMAD5 MBD2 ZNF217 BRCA1 CNOT7 HSALNG0063655 VPS37A lnc-MTMR7-2 MTMR7 ZDHHC2
GH08J018209 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 14.6 -796.7 -796709 1.5 TBP SP1 SIX5 NR2C1 MNT SMAD5 ETS1 IRF2 MBD2 ZNF217 NAT1 MTMR7 lnc-NAT2-2 MTND4LP26 lnc-ASAH1-2 NAT2
GH08J017607 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 11.4 -196.5 -196511 4.8 FEZF1 CEBPA ZEB1 FOXA2 ZNF639 SMAD4 SAP130 ZNF341 MIER3 EBF1 ENSG00000287303 MTUS1 MTMR7 PDGFRL ENSG00000254054 LOC107986919 ENSG00000277466
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTMR7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTMR7

Top Transcription factor binding sites by QIAGEN in the MTMR7 gene promoter:
  • AML1a
  • c-Myb
  • MyoD
  • Nkx2-5
  • POU2F1
  • POU2F1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • XBP-1

Genomic Locations for MTMR7 Gene

Latest Assembly
chr8:17,296,128-17,413,528
(GRCh38/hg38)
Size:
117,401 bases
Orientation:
Minus strand

Previous Assembly
chr8:17,154,303-17,270,860
(GRCh37/hg19 by Entrez Gene)
Size:
116,558 bases
Orientation:
Minus strand

chr8:17,155,539-17,271,037
(GRCh37/hg19 by Ensembl)
Size:
115,499 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 Structure • Gene Density

RefSeq DNA sequence for MTMR7 Gene

Proteins for MTMR7 Gene

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  2. Protein products for research
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  • 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:
    • Heterodimer (via C-terminus) with MTMR9 (via coiled coil domain); the interaction enhances MTMR7 catalytic activity (By similarity). Does not homodimerize (By similarity). Interacts with RAB1B (in GDP-bound form) (By similarity).

    Alternative splice isoforms for MTMR7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTMR7 Gene

Protein Expression for MTMR7 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for MTMR7 Gene

Q9Y216:
  • VGSSKFRS
  • LQAIRKA
  • SCQFGNFL
  • KSPSMSDFL
  • HCSDGWDRT
  • WISFGHKF
  • SGWLRHIKA
  • GIENIHVMR
  • FEFNERFL
  • KGFMVLIEK
  • SQPLSGFSARCLEDEQMLQAIR

Post-translational modifications for MTMR7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MTMR7 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MTMR7 Gene

Gene Families for MTMR7 Gene

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

Protein Domains for MTMR7 Gene

InterPro:
Blocks:
  • Myotubularin-related
ProtoNet:

Suggested Antigen Peptide Sequences for MTMR7 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57280, highly similar to Myotubularin-related protein 7 (EC 3.1.3.-) (B4E1E5_HUMAN)
  • Myotubularin-related protein 7 (MTMR7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y216

UniProtKB/Swiss-Prot:

MTMR7_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 MTMR7: view

Function for MTMR7 Gene

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  6. Cell Lines for research

Molecular function for MTMR7 Gene

UniProtKB/Swiss-Prot Function:
Phosphatase that specifically dephosphorylates phosphatidylinositol 3-phosphate (PtdIns(3)P) and inositol 1,3-bisphosphate (Ins(1,3)P2).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate; Xref=Rhea:RHEA:12316, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57880, ChEBI:CHEBI:58088; EC=3.1.3.64; Evidence={ECO:0000250|UniProtKB:Q9Z2C9};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1D-myo-inositol 1,3-bisphosphate + H2O = 1D-myo-inositol 1-phosphate + phosphate; Xref=Rhea:RHEA:57840, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:58433, ChEBI:CHEBI:83242; Evidence={ECO:0000250|UniProtKB:Q9Z2C9};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Interaction with MTMR9 increases phosphatase activity.
GENATLAS Biochemistry:
myotubularin related protein 7,only expressed in brain

Enzyme Numbers (IUBMB) for MTMR7 Gene

Phenotypes From GWAS Catalog 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 IBA 21873635
GO:0004725 protein tyrosine phosphatase activity TAS,IEA --
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
genes like me logo Genes that share phenotypes with MTMR7: view

Animal Models for research

  • Taconic Biosciences Mouse Models for MTMR7

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTMR7

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. Endomembrane system. Peripheral membrane protein. Cytoplasmic side. Note=May partially localize to endosomes and/or the Golgi apparatus. {ECO:0000250 UniProtKB:Q9Z2C9}.

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 MTMR7 gene
Compartment Confidence
cytosol 5
plasma membrane 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MTMR7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 16787938
GO:0005829 cytosol TAS --
GO:0012505 endomembrane system IEA --
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

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(5) Drugs for MTMR7 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
NAD Experimental Pharma 0
NADP Experimental Pharma 0
Phosphate Experimental Pharma 0
N-acetylmannosamine Investigational Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Beta-D-Fructose 2-phosphate
  • 2-O-Phosphono-beta-D-fructofuranose
  • 2-Phospho-beta-D-fructofuranose
  • beta-D-Fructofuranose 2-phosphate
  • 2-O-Phosphono-b-D-fructofuranose
  • 2-O-Phosphono-β-D-fructofuranose
D-Fructose
  • beta-D-Arabino-hexulose
  • beta-D-Fructose
  • beta-Fruit sugar
  • beta-Levulose
  • FRUCTOSE
 53188-23-1
N-Acetyl-D-mannosamine 6-phosphate
  • 2-(Acetylamino)-2-deoxy-6-O-phosphono-alpha-D-mannopyranose
  • 2-Acetamido-2-deoxy-6-O-phosphono-alpha-D-mannopyranose
  • 2-Acetamido-2-deoxy-6-O-phosphono-alpha-D-mannose
  • 2-(Acetylamino)-2-deoxy-6-O-phosphono-a-D-mannopyranose
  • 2-(Acetylamino)-2-deoxy-6-O-phosphono-α-D-mannopyranose
 873185-52-5
genes like me logo Genes that share compounds with MTMR7: view

Transcripts for MTMR7 Gene

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mRNA/cDNA for MTMR7 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTMR7

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

Expression for MTMR7 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MTMR7 Gene

mRNA expression in normal human tissues for MTMR7 Gene
mRNA expression by GTEx for MTMR7 GenemRNA expression by BioGPS 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 and MOPED for MTMR7 Gene



Protein tissue co-expression partners for MTMR7 Gene

- Elite partner

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

Evidence on tissue expression from TISSUES for MTMR7 Gene

  • Nervous system(4.6)
  • Muscle(3.8)
genes like me logo Genes that share expression patterns with MTMR7: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MTMR7 Gene

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 30 31
  • 97.22 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MTMR7 30 31
  • 91.72 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MTMR7 30 31
  • 90.2 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Mtmr7 30 17 31
  • 88.94 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia MTMR7 31
  • 86 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MTMR7 30 31
  • 79.48 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia MTMR7 31
  • 86 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia mtmr7 30
  • 74.25 (n)
Zebrafish
(Danio rerio)
 Actinopterygii mtmr7a 30 31
  • 66.46 (n)
 OneToMany
mtmr7b 31
  • 66 (a)
 OneToMany
-- 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG3530 31
  • 41 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea mtm-6 31
  • 34 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes YMR1 31
  • 30 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 49 (a)
 OneToMany
Species where no ortholog for MTMR7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MTMR7: view image

Paralogs for MTMR7 Gene

Paralogs for MTMR7 Gene

(6) SIMAP similar genes for MTMR7 Gene using alignment to 4 proteins:

  • MTMR7_HUMAN
  • B4E1E5_HUMAN
  • E5RK11_HUMAN
  • I0EZ69_HUMAN
genes like me logo Genes that share paralogs with MTMR7: view

Variants for MTMR7 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTMR7 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs3764796 - p.Gln559His
rs7388581 - p.Pro44Ala

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MTMR7 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for MTMR7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTMR7

SNP Genotyping and Copy Number Assays for research

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

Disorders for MTMR7 Gene

MalaCards: The human disease database

(10) MalaCards diseases for MTMR7 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search MTMR7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MTMR7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MTMR7: view

No data available for 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 JL (Human molecular genetics 1998) 2 3 4
  2. Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk. (PMID: 22137330) Sanchez-Juan P … van Duijn CM (Neurobiology of aging 2012) 3 41
  3. 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
  4. Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions. (PMID: 16787938) Lorenzo O … Clague MJ (Journal of cell science 2006) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

ExternalLinks

View latest publications for MTMR7 gene in Mastermind

Products for MTMR7 Gene

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