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Aliases for MTMR8 Gene

Aliases for MTMR8 Gene

  • Myotubularin Related Protein 8 2 3 5
  • EC 3.1.3.48 61
  • EC 3.1.3.- 4
  • EC 3.1.3 61

External Ids for MTMR8 Gene

Previous GeneCards Identifiers for MTMR8 Gene

  • GC0XM059708
  • GC0XM060953
  • GC0XM061721
  • GC0XM062354
  • GC0XM063270
  • GC0XM063404
  • GC0XM063487
  • GC0XM057310
  • GC0XM063445

Summaries for MTMR8 Gene

Entrez Gene Summary for MTMR8 Gene

  • This gene encodes a member of the myotubularin-related family and is part of the MTMR6 subgroup. Family members are dual-specificity phosphatases and the encoded protein contains a phosphoinositide-binding domain (PID) and a SET-interacting domain (SID). Defects in other family members have been found in myotubular myopathic diseases. [provided by RefSeq, Mar 2010]

GeneCards Summary for MTMR8 Gene

MTMR8 (Myotubularin Related Protein 8) is a Protein Coding gene. Among its related pathways are Metabolism and Inositol phosphate metabolism (KEGG). GO annotations related to this gene include phosphatase activity and phosphatidylinositol-3-phosphatase activity. An important paralog of this gene is MTMR6.

UniProtKB/Swiss-Prot for MTMR8 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 MTMR8 Gene

Genomics for MTMR8 Gene

Regulatory Elements for MTMR8 Gene

Enhancers for MTMR8 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
GH0XF064351 0.4 ENCODE 12.7 +43.3 43280 1.0 MTMR8 GC0XM064275 GC0XM064276 LOC100421109
GH0XF064850 0.3 FANTOM5 4.2 -455.4 -455399 0.4 MTMR8 LOC105373239 GC0XM064895
GH0XF064334 0.3 FANTOM5 2.7 +60.9 60944 0.2 AMER1 MTMR8 LOC100421109 GC0XM064275 GC0XM064276
GH0XF064394 0.6 ENCODE 0.8 +0.2 176 1.6 USF1 BRCA1 ETS1 YY1 E2F1 POLR2A RCOR1 ZNF600 E2F6 CHD2 MTMR8 GC0XM064277
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MTMR8 on UCSC Golden Path with GeneCards custom track

Promoters for MTMR8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001490163 352 1400 USF1 BRCA1 ETS1 CHAMP1 YY1 E2F1 POLR2A RCOR1 ZNF600 E2F6

Genomic Location for MTMR8 Gene

Chromosome:
X
Start:
64,268,081 bp from pter
End:
64,395,453 bp from pter
Size:
127,373 bases
Orientation:
Minus strand

Genomic View for MTMR8 Gene

Genes around MTMR8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTMR8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTMR8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTMR8 Gene

Proteins for MTMR8 Gene

  • Protein details for MTMR8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96EF0-MTMR8_HUMAN
    Recommended name:
    Myotubularin-related protein 8
    Protein Accession:
    Q96EF0
    Secondary Accessions:
    • Q5JT99
    • Q9NXP6

    Protein attributes for MTMR8 Gene

    Size:
    704 amino acids
    Molecular mass:
    78919 Da
    Quaternary structure:
    • Interacts with MTMR9.
    SequenceCaution:
    • Sequence=BAA90964.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MTMR8 Gene

    Alternative splice isoforms for MTMR8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTMR8 Gene

Selected DME Specific Peptides for MTMR8 Gene

Post-translational modifications for MTMR8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MTMR8 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MTMR8 Gene

Gene Families for MTMR8 Gene

Suggested Antigen Peptide Sequences for MTMR8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96EF0

UniProtKB/Swiss-Prot:

MTMR8_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 MTMR8: view

Function for MTMR8 Gene

Molecular function for MTMR8 Gene

UniProtKB/Swiss-Prot Function:
Phosphatase that acts on lipids with a phosphoinositol headgroup.

Enzyme Numbers (IUBMB) for MTMR8 Gene

Gene Ontology (GO) - Molecular Function for MTMR8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004438 phosphatidylinositol-3-phosphatase activity IEA --
GO:0004725 protein tyrosine phosphatase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0016791 phosphatase activity IEA --
GO:0052629 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity IEA --
genes like me logo Genes that share ontologies with MTMR8: view
genes like me logo Genes that share phenotypes with MTMR8: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MTMR8 Gene

Localization for MTMR8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTMR8 Gene

Nucleus envelope.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MTMR8 Gene COMPARTMENTS Subcellular localization image for MTMR8 gene
Compartment Confidence
nucleus 4
cytosol 3

Gene Ontology (GO) - Cellular Components for MTMR8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IEA --
genes like me logo Genes that share ontologies with MTMR8: view

Pathways & Interactions for MTMR8 Gene

genes like me logo Genes that share pathways with MTMR8: view

Pathways by source for MTMR8 Gene

Gene Ontology (GO) - Biological Process for MTMR8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010506 regulation of autophagy IEA --
GO:0016311 dephosphorylation IEA --
GO:0035335 peptidyl-tyrosine dephosphorylation IEA --
GO:0046856 phosphatidylinositol dephosphorylation IEA --
genes like me logo Genes that share ontologies with MTMR8: view

No data available for SIGNOR curated interactions for MTMR8 Gene

Transcripts for MTMR8 Gene

mRNA/cDNA for MTMR8 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(15) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MTMR8 Gene

Myotubularin related protein 8:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTMR8 Gene

No ASD Table

Relevant External Links for MTMR8 Gene

GeneLoc Exon Structure for
MTMR8
ECgene alternative splicing isoforms for
MTMR8

Expression for MTMR8 Gene

mRNA expression in normal human tissues for MTMR8 Gene

Protein differential expression in normal tissues from HIPED for MTMR8 Gene

This gene is overexpressed in Fetal Brain (67.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MTMR8 Gene



Protein tissue co-expression partners for MTMR8 Gene

NURSA nuclear receptor signaling pathways regulating expression of MTMR8 Gene:

MTMR8

SOURCE GeneReport for Unigene cluster for MTMR8 Gene:

Hs.442892
genes like me logo Genes that share expression patterns with MTMR8: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MTMR8 Gene

Orthologs for MTMR8 Gene

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

Orthologs for MTMR8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTMR8 34 35
  • 99.81 (n)
cow
(Bos Taurus)
Mammalia MTMR8 35
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTMR8 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTMR8 34 35
  • 70.74 (n)
lizard
(Anolis carolinensis)
Reptilia MTMR8 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtmr8 34
  • 65.97 (n)
zebrafish
(Danio rerio)
Actinopterygii mtmr8 34 35
  • 63.41 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3530 34 35
  • 57.91 (n)
CG5026 36
  • 43 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005341 34
  • 57.29 (n)
worm
(Caenorhabditis elegans)
Secernentea mtm-6 34 35
  • 50.09 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YMR1 35 37
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 49 (a)
OneToMany
Species where no ortholog for MTMR8 was found in the sources mined by GeneCards:
  • 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • 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)
  • mouse (Mus musculus)
  • 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 MTMR8 Gene

ENSEMBL:
Gene Tree for MTMR8 (if available)
TreeFam:
Gene Tree for MTMR8 (if available)

Paralogs for MTMR8 Gene

Paralogs for MTMR8 Gene

(13) SIMAP similar genes for MTMR8 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for MTMR8 Gene

genes like me logo Genes that share paralogs with MTMR8: view

Variants for MTMR8 Gene

Sequence variations from dbSNP and Humsavar for MTMR8 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_042688 A breast cancer sample
VAR_042689 A breast cancer sample
rs386352332 Uncertain significance 64,271,062(-) GTGTG(A/G)GATGT reference, missense
rs10126517 -- 64,352,541(+) TTGAT(A/G)TCTGT intron-variant
rs1079925 -- 64,322,262(+) aaagt(A/G)atggg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MTMR8 Gene

Variant ID Type Subtype PubMed ID
dgv4249n106 CNV duplication 24896259
esv1584074 OTHER inversion 17803354
esv2758870 CNV gain 17122850
nsv1078675 CNV duplication 25765185
nsv1148014 CNV duplication 26484159
nsv6929 CNV insertion 18451855
nsv6930 CNV insertion 18451855

Variation tolerance for MTMR8 Gene

Residual Variation Intolerance Score: 83% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.75; 33.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MTMR8 Gene

Human Gene Mutation Database (HGMD)
MTMR8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTMR8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTMR8 Gene

Disorders for MTMR8 Gene

Relevant External Links for MTMR8

Genetic Association Database (GAD)
MTMR8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTMR8

No disorders were found for MTMR8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MTMR8 Gene

Publications for MTMR8 Gene

  1. The myotubularin family: from genetic disease to phosphoinositide metabolism. (PMID: 11275328) Laporte J. … Mandel J.L. (Trends Genet. 2001) 2 3 64
  2. Structure of the catalytic phosphatase domain of MTMR8: implications for dimerization, membrane association and reversible oxidation. (PMID: 26143924) Yoo K.Y. … Heo Y.S. (Acta Crystallogr. D Biol. Crystallogr. 2015) 3 64
  3. X-linked MTMR8 diversity and evolutionary history of sub-Saharan populations. (PMID: 24282552) Labuda D. … Williams S.M. (PLoS ONE 2013) 3 64
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64
  5. Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions. (PMID: 16787938) Lorenzo O. … Clague M.J. (J. Cell Sci. 2006) 4 64

Products for MTMR8 Gene

Sources for MTMR8 Gene

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