ANKRD31 Gene Summary [Human]

This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Mutations in this gene are associated with a Rett syndrome (RTT)-like phenotype. [provided by RefSeq, Apr 2017]

Details

Type
Processed Transcript
Official Symbol
ANKRD31
Official Name
ankyrin repeat domain 31 [Source:HGNC Symbol;Acc:HGNC:26853]
Ensembl ID
ENSG00000145700
Bio databases IDs NCBI: 256006 Ensembl: ENSG00000145700
Aliases ankyrin repeat domain 31
Synonyms AABR07007769.1, ankyrin repeat domain 31
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 ANKRD31 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Ankyrin repeats (many copies)
  • Ankyrin repeats (3 copies)
  • Restriction Enzyme Adenine Methylase Associated
  • protein binding
  • Ankyrin repeat
  • ankyrin repeats

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • familial premature ovarian failure
  • Alzheimer disease
regulated by
role in cell
  • formation
  • formation in
  • meiotic recombination in
  • synapsis in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • chromatin

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human ANKRD31 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • meiotic DNA double-strand break formation involved in reciprocal meiotic recombination
  • synapsis

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • chromatin

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.