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MTMR8 myotubularin related protein 8 [ Homo sapiens (human) ]

Gene ID: 55613, updated on 2-Nov-2024

Summary

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Official Symbol
MTMR8provided by HGNC
Official Full Name
myotubularin related protein 8provided by HGNC
Primary source
HGNC:HGNC:16825
See related
Ensembl:ENSG00000102043 MIM:301061; AllianceGenome:HGNC:16825
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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]
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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See MTMR8 in Genome Data Viewer
Location:
Xq11.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (64268081..64395452, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (62693357..62820731, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (63487961..63615332, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268307 Neighboring gene RNA, 7SL, cytoplasmic 799, pseudogene Neighboring gene ankyrin repeat and SOCS box containing 12 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:63521683-63522184 Neighboring gene KPNA4 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29710 Neighboring gene profilin 5, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29711 Neighboring gene SHC adaptor protein 1 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. X-linked MTMR8 diversity and evolutionary history of sub-Saharan populations. Labuda D, et al. PLoS One, 2013. PMID 24282552, Free PMC Article
  2. Structure of the catalytic phosphatase domain of MTMR8: implications for dimerization, membrane association and reversible oxidation. Yoo KY, et al. Acta Crystallogr D Biol Crystallogr, 2015 Jul. PMID 26143924
  3. The myotubularin family: from genetic disease to phosphoinositide metabolism. Laporte J, et al. Trends Genet, 2001 Apr. PMID 11275328
  4. Myotubularin-related protein (MTMR) 9 determines the enzymatic activity, substrate specificity, and role in autophagy of MTMR8. Zou J, et al. Proc Natl Acad Sci U S A, 2012 Jun 12. PMID 22647598, Free PMC Article
  5. Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions. Lorenzo O, et al. J Cell Sci, 2006 Jul 15. PMID 16787938

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Here, the crystal structure of the phosphatase domain of MTMR8 is reported.
    Title: Structure of the catalytic phosphatase domain of MTMR8: implications for dimerization, membrane association and reversible oxidation.
  2. East African population that gave rise to non-Africans underwent a selective sweep affecting the subcentromeric region where MTMR8 is located
    Title: X-linked MTMR8 diversity and evolutionary history of sub-Saharan populations.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: ASB12

Homology

Clone Names

  • FLJ20126, FLJ60798

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables phosphatidylinositol-3,5-bisphosphate phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol-3,5-bisphosphate phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol-3-phosphate phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol-3-phosphate phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of autophagy IPI
Inferred from Physical Interaction
more info
 PubMed 
involved_in phosphatidylinositol dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phosphatidylinositol dephosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of macroautophagy IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in nuclear envelope IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nuclear envelope IDA
Inferred from Direct Assay
more info
 PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR8
Names
phosphatidylinositol-3,5-bisphosphate 3-phosphatase
phosphatidylinositol-3-phosphate phosphatase
NP_060147.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016567.1 RefSeqGene

    Range
    5002..132373
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_017677.4 → NP_060147.2  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR8

    See identical proteins and their annotated locations for NP_060147.2

    Status: REVIEWED

    Source sequence(s)
    AL356317, BC012399, DA691850
    Consensus CDS
    CCDS14379.1
    UniProtKB/Swiss-Prot
    Q5JT99, Q96EF0, Q9NXP6
    Related
    ENSP00000363985.3, ENST00000374852.4
    Conserved Domains (2) summary
    cd13345
    Location:1 → 103
    PH-GRAM_MTMR8; Myotubularian (MTM) related 8 protein (MTMR8) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:109 → 446
    Myotub-related; Myotubularin-like phosphatase domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    64268081..64395452 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    62693357..62820731 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96EF0.1 GenPept UniProtKB/Swiss-Prot:Q96EF0

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