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Aliases for MTMR8 Gene

Aliases for MTMR8 Gene

  • Myotubularin Related Protein 8 2 3 5
  • EC 3.1.3.48 58
  • EC 3.1.3.- 4
  • EC 3.1.3 58

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 Inositol phosphate metabolism (KEGG) and Metabolism. GO annotations related to this gene include phosphatase activity and phosphatidylinositol-3-phosphatase activity. An important paralog of this gene is MTMR7.

UniProtKB/Swiss-Prot for MTMR8 Gene

  • Phosphatase that acts on lipids with a phosphoinositol headgroup.

Additional gene information for MTMR8 Gene

No data available for CIViC summary , 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
GH0XH063433 0.9 ENCODE 10 +961.2 961159 2.3 PKNOX1 YY1 TCF12 ZNF766 EGR1 ZHX1 CAVIN1 ZBTB11 ZC3H11A HDAC8 LOC100421109 SPIN4-AS1 MTMR8 PIR59801 LINC01278
GH0XH064351 0.2 ENCODE 12.7 +43.3 43280 1 MTMR8 GC0XM064275 GC0XM064276 LOC100421109
GH0XH064850 0.3 FANTOM5 4.2 -455.4 -455399 0.4 MTMR8 LOC105373239 GC0XM064895
GH0XH064334 0.3 FANTOM5 2.7 +60.9 60944 0.2 AMER1 MTMR8 LOC100421109 GC0XM064275 GC0XM064276
GH0XH064394 0.8 ENCODE 0.7 +0.2 176 1.6 TBP RB1 BRCA1 YY1 ETS1 E2F1 EGR1 POLR2A ZNF600 CHD2 MTMR8 GC0XM064277
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000246848 352 1399 RB1 BRCA1 CHAMP1 YY1 ETS1 EGR1 SP3 HCFC1 CBFB USF2

Genomic Locations for MTMR8 Gene

Genomic Locations for MTMR8 Gene
chrX:64,268,081-64,395,453
(GRCh38/hg38)
Size:
127,373 bases
Orientation:
Minus strand
chrX:63,444,187-63,615,333
(GRCh37/hg19)

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

Q96EF0:
  • VGSSKFRS
  • SCQFGNFL
  • LYAFSYNPK
  • HCSDGWDRT
  • SGWLRHIKA
  • GIENIHVMR

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 :
  • 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 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 TAS --
GO:0004725 protein tyrosine phosphatase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0052629 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity TAS --
genes like me logo Genes that share ontologies with MTMR8: view
genes like me logo Genes that share phenotypes with MTMR8: view

Clone Products

No data available for Phenotypes From GWAS Catalog , 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
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 MTMR8 gene
Compartment Confidence
cytosol 5
nucleus 4

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 --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MTMR8: view

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006661 phosphatidylinositol biosynthetic process TAS --
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

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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for MTMR8 Gene

  • Intestine(4.1)
genes like me logo Genes that share expression patterns with MTMR8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.81 (n)
cow
(Bos Taurus)
Mammalia MTMR8 34
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTMR8 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTMR8 33 34
  • 70.74 (n)
lizard
(Anolis carolinensis)
Reptilia MTMR8 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtmr8 33
  • 65.97 (n)
zebrafish
(Danio rerio)
Actinopterygii mtmr8 33 34
  • 63.41 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3530 33 34
  • 57.91 (n)
CG5026 35
  • 43 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005341 33
  • 57.29 (n)
worm
(Caenorhabditis elegans)
Secernentea mtm-6 33 34
  • 50.09 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YMR1 34 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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/T)GATGT reference, missense
rs1000022310 -- 64,284,522(+) AATTG(G/T)CAGAT intron-variant
rs1000029405 -- 64,336,216(+) TTGCT(A/G)AAATA intron-variant

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

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

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. 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 60
  2. The myotubularin family: from genetic disease to phosphoinositide metabolism. (PMID: 11275328) Laporte J … Mandel JL (Trends in genetics : TIG 2001) 2 3 60
  3. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. (PMID: 28065597) Yao Z … Stagljar I (Molecular cell 2017) 3 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. (PMID: 27432908) Li X … Wang W (Molecular & cellular proteomics : MCP 2016) 3 60

Products for MTMR8 Gene

Sources for MTMR8 Gene

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