NIPSNAP2 Gene Summary [Human]

This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation. A pseudogene of this gene is located on the long arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]

Details

Type
Protein Coding
Official Symbol
NIPSNAP2
Official Name
nipsnap homolog 2 [Source:HGNC Symbol;Acc:HGNC:4179]
Ensembl ID
ENSG00000146729
Bio databases IDs NCBI: 2631 Ensembl: ENSG00000146729
Aliases nipsnap homolog 2
Synonyms AV006093, GBAS, LOC498174, nipsnap homolog 2
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 NIPSNAP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • protein binding activity, bridging
  • protein binding
  • NIPSNAP

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • idiopathic perifoveal telangiectasia
  • psoriasis
  • idiopathic membranous nephropathy
  • infection by HIV-1
regulated by
role in cell
  • organization

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • Cytoplasm
  • Mitochondria
  • cytosol
  • mitochondrial matrix
  • mitochondrial outer membrane
  • synaptosomes

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human NIPSNAP2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • oxidative phosphorylation
  • macromitophagy
  • mitochondrion organization

Cellular Component

Where in the cell the gene product is active
  • mitochondrial matrix
  • mitochondrion
  • mitochondrial outer membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • protein binding, bridging

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.