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 54
  • EC 3.1.3.48 54
  • EC 3.1.3.64 4
  • EC 3.1.3.- 4
  • EC 3.1.3 54

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 Generalized Epilepsy With Febrile Seizures Plus. 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 for MTMR7 Gene

Promoters and enhancers for MTMR7 Gene
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for MTMR7 Gene
chr8:17,296,794-17,413,531
(GRCh38/hg38)
Size:
116,738 bases
Orientation:
Minus strand
chr8:17,154,306-17,271,040
(GRCh37/hg19)
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:
    • 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

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

Domains & Families for MTMR7 Gene

Gene Families for MTMR7 Gene

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

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=. ;.
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=. ;.
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 IEA --
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

Phenotypes for MTMR7 Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for MTMR7

CRISPR Products

Clone 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. 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

Gene Ontology (GO) - Cellular Components for MTMR7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MTMR7 Gene

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

(4) 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 Experimental Pharma Full agonist, Agonist, Activator 0
N-acetylmannosamine Investigational Pharma 0

(4) 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
  • 2-O-phosphono-b-D-Fructofuranose
  • 2-O-phosphono-β-D-fructofuranose
  • b-D-Fructose 2-phosphate
L-Sorbose
  • D-lyxo-2-Hexulose
  • D-lyxo-Hex-2-ulose
  • D-Tag
  • lyxo-2-Hexulose
  • lyxo-Hexulose
53188-23-1, 87-79-6
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
NADP
  • beta-Nicotinamide adenine dinucleotide phosphate
  • NADP+
  • Nicotinamide adenine dinucleotide phosphate
  • Oxidized nicotinamide-adenine dinucleotide phosphate
  • TPN
53-59-8
genes like me logo Genes that share compounds with MTMR7: view

Transcripts for MTMR7 Gene

mRNA/cDNA for MTMR7 Gene

CRISPR Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

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.

Evidence on tissue expression from TISSUES for MTMR7 Gene

  • Nervous system(4.5)
  • Muscle(3.6)
genes like me logo Genes that share expression patterns with MTMR7: view

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 33 32
  • 97.22 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MTMR7 33 32
  • 91.72 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MTMR7 33 32
  • 90.2 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mtmr7 17 33 32
  • 88.94 (n)
oppossum
(Monodelphis domestica)
Mammalia MTMR7 33
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTMR7 33 32
  • 79.48 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTMR7 33
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtmr7 32
  • 74.25 (n)
zebrafish
(Danio rerio)
Actinopterygii mtmr7a 33 32
  • 66.46 (n)
OneToMany
mtmr7b 33
  • 66 (a)
OneToMany
-- 32
fruit fly
(Drosophila melanogaster)
Insecta CG3530 33
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mtm-6 33
  • 34 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YMR1 33
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MTMR7: view image

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

Sequence variations from dbSNP and Humsavar for MTMR7 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000017661 -- 17,409,318(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000027250 -- 17,363,785(-) C/G/T genic_upstream_transcript_variant, intron_variant
rs1000031599 -- 17,302,096(-) G/A intron_variant
rs1000033426 -- 17,307,212(-) A/G intron_variant
rs1000055281 -- 17,323,477(-) C/T 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)

Additional Variant Information for MTMR7 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MTMR7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MTMR7 Gene - From: DISEASES

Disorder Aliases PubMed IDs
generalized epilepsy with febrile seizures plus
  • gefs+
- 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 of Genetics and Cytogenetics in Oncology and Haematology
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 56
  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 43 56
  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 43 56
  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 56
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56

Products for MTMR7 Gene

Sources for MTMR7 Gene