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Aliases for MTMR8 Gene

Aliases for MTMR8 Gene

  • Myotubularin Related Protein 8 2 3 5
  • EC 3.1.3.48 63
  • EC 3.1.3.- 4
  • EC 3.1.3 63

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 MTMR2.

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

Promoters for MTMR8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MTMR8 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for MTMR8 Gene at MOPED

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:

Antibody Products

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:0004725 protein tyrosine 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

CRISPR Products

Inhibitory RNA Products

In Situ Assay 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

No data available for Gene Ontology (GO) - Cellular Components for MTMR8 Gene

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

None

No data available for SIGNOR curated interactions for MTMR8 Gene

Drugs & Compounds for MTMR8 Gene

No Compound Related Data Available

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:

CRISPR Products

Inhibitory RNA 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



SOURCE GeneReport for Unigene cluster for MTMR8 Gene Hs.442892

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

Protein tissue co-expression partners for MTMR8 Gene

Primer Products

In Situ Assay 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 35
  • 99.81 (n)
  • 99.57 (a)
MTMR8 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MTMR8 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTMR8 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTMR8 36
  • 66 (a)
OneToOne
MTMR8 35
  • 70.74 (n)
  • 68.76 (a)
lizard
(Anolis carolinensis)
Reptilia MTMR8 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtmr8 35
  • 65.97 (n)
  • 62.8 (a)
zebrafish
(Danio rerio)
Actinopterygii mtmr8 36
  • 57 (a)
OneToOne
mtmr8 35
  • 63.41 (n)
  • 63.1 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005341 35
  • 57.29 (n)
  • 54.97 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5026 37
  • 43 (a)
CG3530 35
  • 57.91 (n)
  • 55.16 (a)
CG3530 36
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mtm-6 35
  • 50.09 (n)
  • 41.71 (a)
mtm-6 36
  • 31 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YMR1 36
  • 28 (a)
OneToMany
YMR1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 49 (a)
OneToMany
Species with no ortholog for MTMR8:
  • 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
rs1079925 -- 64,322,262(+) aaagt(A/G)atggg intron-variant
rs1932919 -- 64,333,971(+) CTTCA(C/T)TAGAC intron-variant
rs1932920 -- 64,375,379(-) tctcc(A/G)tccct intron-variant

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

Variant ID Type Subtype PubMed ID
esv1584074 OTHER Inversion 17803354
nsv6929 CNV Insertion 18451855
dgv2449e1 CNV Complex 17122850
essv12363 CNV CNV 17122850
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

HapMap Linkage Disequilibrium report
MTMR8
Human Gene Mutation Database (HGMD)
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 67
  2. X-linked MTMR8 diversity and evolutionary history of sub-Saharan populations. (PMID: 24282552) Labuda D. … Williams S.M. (PLoS ONE 2013) 3
  3. 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
  4. Towards a proteome-scale map of the human protein-protein interaction network. (PMID: 16189514) Rual J.F. … Vidal M. (Nature 2005) 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for MTMR8 Gene

Sources for MTMR8 Gene

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