AHNAK2 Gene Summary [Human]

This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-terminal PSD-95/Discs-large/ZO-1 (PDZ)-like domain is thought to function in the formation of stable homodimers. The encoded protein may play a role in calcium signaling by associating with calcium channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]

Details

Type
Retained Intron
Official Symbol
AHNAK2
Official Name
AHNAK nucleoprotein 2 [Source:HGNC Symbol;Acc:HGNC:20125]
Ensembl ID
ENSG00000185567
Bio databases IDs NCBI: 113146 Ensembl: ENSG00000185567
Aliases AHNAK nucleoprotein 2
Synonyms AHNAK nucleoprotein 2, C14orf78, Gm1185, Gm72, KIAA2019, LOC100047183, LOC100503606, LOC283639, LOC730269, RGD1309696
Species
Human, Homo sapiens
OrthologiesMouse

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 AHNAK2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Domain present in PSD-95, Dlg, and ZO-1/2
  • canonical PDZ domain
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • systemic sclerosis
  • systemic lupus erythematosus
  • COVID-19
  • diabetic nephropathy
  • thyroid carcinoma
  • epithelial thyroid cancer
regulated 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.
  • Cytoplasm
  • Plasma Membrane
  • cytosol

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human AHNAK2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of RNA splicing

Cellular Component

Where in the cell the gene product is active
  • T-tubule
  • nucleus
  • cytoplasm
  • sarcolemma
  • cytosol
  • costamere
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • protein 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.