FASTKD2 Gene Summary [Human]

This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in mitochondrial apoptosis. Nonsense mutations have been reported to result in cytochrome c oxidase deficiency. [provided by RefSeq, Oct 2008]

Details

Type
Protein Coding
Official Symbol
FASTKD2
Official Name
FAST kinase domains 2 [Source:HGNC Symbol;Acc:HGNC:29160]
Ensembl ID
ENSG00000118246
Bio databases IDs NCBI: 22868 Ensembl: ENSG00000118246
Aliases FAST kinase domains 2
Synonyms 2810421I24Rik, COXPD44, FAST kinase domains 2, KIAA0971, RGD1307883
Species
Human, Homo sapiens
OrthologiesMouseRat

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 FASTKD2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • FAST kinase-like protein, subdomain 1
  • rRNA binding
  • RNA-editing substrate-binding complex subunit 6 (RESC6) and related proteins
  • protein binding
  • PDDEXK family nucleases

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • combined oxidative phosphorylation deficiency 44
  • mitochondrial disorder
  • Leigh syndrome
  • nuclear type 1 mitochondrial complex iv deficiency
role in cell
  • apoptosis

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • ribonucleoprotein granule
  • Mitochondria
  • mitochondrial matrix
  • mitochondrial nucleoids

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human FASTKD2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of mitochondrial mRNA stability
  • positive regulation of mitochondrial translation
  • apoptotic process
  • mitochondrial translation
  • RNA processing
  • mitochondrial RNA processing

Cellular Component

Where in the cell the gene product is active
  • ribonucleoprotein granule
  • mitochondrial matrix
  • mitochondrion
  • mitochondrial nucleoid

Molecular Function

What the gene product does at the molecular level
  • RNA binding
  • protein binding
  • rRNA binding

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.