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] See more...

Aliases for MTMR8 Gene

Aliases for MTMR8 Gene

  • Myotubularin Related Protein 8 2 3 5
  • Phosphatidylinositol-3,5-Bisphosphate 3-Phosphatase 3 4
  • Phosphatidylinositol-3-Phosphate Phosphatase 3 4
  • Myotubularin-Related Protein 8 3 4
  • EC 3.1.3.48 50
  • EC 3.1.3.95 4
  • EC 3.1.3.64 4
  • FLJ20126 2
  • EC 3.1.3 50
  • MTMR8 5

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. Diseases associated with MTMR8 include Myopathy, Centronuclear, X-Linked and Galactosemia Iii. Among its related pathways are superpathway of inositol phosphate compounds and Metabolism. Gene Ontology (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 Summary for MTMR8 Gene

  • Phosphatase that acts on lipids with a phosphoinositol headgroup (PubMed:22647598, PubMed:26143924). Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate (PubMed:22647598, PubMed:26143924). In complex with MTMR9, negatively regulates autophagy (PubMed:22647598).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTMR8 Gene

Genomics for MTMR8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MTMR8 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
GH0XJ064394 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.3 317 1.9 ZNF600 SIX5 POLR2A YY1 ETS1 CHD2 BHLHE40 TBP REST KLF9 MTMR8 AMER1 piR-55194-437 HSALNG0138254-002 ASB12
GH0XJ064393 Promoter 0.4 Ensembl 250.7 +1.6 1551 0.2 ELF1 MTMR8 piR-55194-437 HSALNG0138254-002 ASB12
GH0XJ063433 Enhancer 1 Ensembl ENCODE 10 +961.2 961157 2.3 NCOR1 IKZF1 ZNF592 NFIC TAL1 YY1 NUFIP1 RELA JUND PRDM10 lnc-ZC3H12B-13 KPNA4P1 SPIN4-AS1 MTMR8 piR-46256-056 SPIN4 LINC01278 ENSG00000288661
GH0XJ064426 Enhancer 0.3 Ensembl 12 -32.2 -32249 2.2 BATF RUNX3 MTMR8 SHC1P1 PFN5P ZC4H2
GH0XJ064351 Enhancer 0.3 ENCODE 12.7 +43.3 43278 1 CREB1 MTMR8 lnc-ASB12-1 piR-61240-319 HSALNG0138254-002 ASB12 ENSG00000287370
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTMR8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTMR8

Top Transcription factor binding sites by QIAGEN in the MTMR8 gene promoter:
  • AML1a
  • AREB6
  • Evi-1
  • LCR-F1
  • Nkx2-5
  • STAT5A

Genomic Locations for MTMR8 Gene

Latest Assembly
chrX:64,268,081-64,395,452
(GRCh38/hg38)
Size:
127,372 bases
Orientation:
Minus strand

Previous Assembly
chrX:63,487,961-63,615,332
(GRCh37/hg19 by Entrez Gene)
Size:
127,372 bases
Orientation:
Minus strand

chrX:63,444,187-63,615,333
(GRCh37/hg19 by Ensembl)
Size:
171,147 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:
    • Homodimer (PubMed:26143924). Heterodimer with MTMR9 (PubMed:16787938, PubMed:22647598).
    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

Protein Domains for MTMR8 Gene

Suggested Antigen Peptide Sequences for MTMR8 Gene

GenScript: Design optimal peptide antigens:
  • Myotubularin-related protein 8 (MTMR8_HUMAN)

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 (PubMed:22647598, PubMed:26143924). Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate (PubMed:22647598, PubMed:26143924). In complex with MTMR9, negatively regulates autophagy (PubMed:22647598).
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:0000269|PubMed:22647598};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + phosphate; Xref=Rhea:RHEA:39019, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57795, ChEBI:CHEBI:57923; EC=3.1.3.95; Evidence={ECO:0000269|PubMed:22647598, ECO:0000269|PubMed:26143924};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=16.64 uM for phosphatidylinositol 3,5-biphosphate {ECO:0000269|PubMed:26143924};
UniProtKB/Swiss-Prot EnzymeRegulation:
Interaction with MTMR9 increases phosphatase activity.

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 IBA 21873635
GO:0004725 protein tyrosine phosphatase activity IEA --
GO:0005515 protein binding IPI 16189514
GO:0016787 hydrolase 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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTMR8

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
nucleus 5
cytosol 5
cytoskeleton 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MTMR8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IBA,IDA 16787938
GO:0005737 cytoplasm IDA 16787938
GO:0005829 cytosol TAS --
GO:0016020 membrane IBA 21873635
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:0010507 negative regulation of autophagy IPI,IBA 21873635
GO:0016241 regulation of macroautophagy IMP 32915229
GO:0016311 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 :
4 NCBI additional mRNA sequence :
4 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 MTMR8

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

No ASD Table

Relevant External Links for MTMR8 Gene

GeneLoc Exon Structure for
MTMR8

Expression for MTMR8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for MTMR8 Gene



Protein tissue co-expression partners for MTMR8 Gene

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

Primer products for research

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 29 30
  • 99.81 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MTMR8 30
  • 93 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MTMR8 30
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MTMR8 29 30
  • 70.74 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MTMR8 30
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mtmr8 29
  • 65.97 (n)
Zebrafish
(Danio rerio)
Actinopterygii mtmr8 29 30
  • 63.41 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG3530 29 30
  • 57.91 (n)
OneToMany
CG5026 31
  • 43 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005341 29
  • 57.29 (n)
Worm
(Caenorhabditis elegans)
Secernentea mtm-6 29 30
  • 50.09 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YMR1 30 32
  • 28 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 49 (a)
OneToMany
Species where no ortholog for MTMR8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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 MTMR8 Gene

ENSEMBL:
Gene Tree for MTMR8 (if available)
TreeFam:
Gene Tree for MTMR8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTMR8: view image
Alliance of Genome Resources:
Additional Orthologs for MTMR8

Paralogs for MTMR8 Gene

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

  • MTMR8_HUMAN
  • B4DQL0_HUMAN

Pseudogenes.org Pseudogenes for MTMR8 Gene

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

Variants for MTMR8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTMR8 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
992299 Uncertain Significance: not provided 64,356,332(-) G/C
NM_017677.4(MTMR8):c.154C>G (p.Leu52Val)
MISSENSE
rs140628206 A breast cancer sample p.Trp127Arg
rs386352332 Uncertain Significance: not provided 64,271,062(-) C/T
NM_017677.4(MTMR8):c.1493G>A (p.Gly498Glu)
MISSENSE
VAR_042689 A breast cancer sample p.Glu454Lys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MTMR8 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 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)

Additional Variant Information for MTMR8 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for MTMR8 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MTMR8 Gene - From: COP

Disorder Aliases PubMed IDs
myopathy, centronuclear, x-linked
  • cnmx
galactosemia iii
  • galac3
centronuclear myopathy
  • myotubular myopathy
- elite association - COSMIC cancer census association via MalaCards
Search MTMR8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MTMR8

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

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

Publications for MTMR8 Gene

  1. Structure of the catalytic phosphatase domain of MTMR8: implications for dimerization, membrane association and reversible oxidation. (PMID: 26143924) Yoo KY … Heo YS (Acta crystallographica. Section D, Biological crystallography 2015) 3 4
  2. 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
  3. The myotubularin family: from genetic disease to phosphoinositide metabolism. (PMID: 11275328) Laporte J … Mandel JL (Trends in genetics : TIG 2001) 2 3
  4. A conserved myotubularin-related phosphatase regulates autophagy by maintaining autophagic flux. (PMID: 32915229) Allen EA … Baehrecke EH (The Journal of cell biology 2020) 3
  5. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. (PMID: 31515488) Fragoza R … Yu H (Nature communications 2019) 3

Products for MTMR8 Gene

Sources for MTMR8 Gene