MTMR8 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
MTMR8
Official Name
myotubularin related protein 8 [Source:HGNC Symbol;Acc:HGNC:16825]
Ensembl ID
ENSG00000102043
Bio databases IDs NCBI: 55613 Ensembl: ENSG00000102043
Aliases myotubularin related protein 8
Synonyms myotubularin related protein 8
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MTMR8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • phosphatidylinositol-3-phosphatase
  • phosphatase
  • Myotubularin-like phosphatase domain
  • protein binding
  • Pleckstrin homology-like domain
  • PTP_DSP_cys

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • B-cell non-Hodgkin disease
  • mature B-cell neoplasia
  • diffuse large B-cell lymphoma
regulated by
regulates
  • phosphatidylinositol
role in cell
  • survival
  • autophagy by

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • Cytoplasm
  • cytosol
  • nuclear envelope

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human MTMR8 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of macroautophagy
  • phosphatidylinositol dephosphorylation

Cellular Component

Where in the cell the gene product is active
  • nuclear envelope
  • cytoplasm
  • cytosol

Molecular Function

What the gene product does at the molecular level
  • phosphatidylinositol-3-phosphatase activity
  • protein binding
  • phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.