NRXN3 Gene Summary [Human]

This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants and protein isoforms for this gene, but the full-length nature of many of these variants has not been determined. Transcripts that initiate from an upstream promoter encode alpha isoforms, which contain epidermal growth factor-like (EGF-like) sequences and laminin G domains. Transcripts initiating from the downstream promoter encode beta isoforms, which lack EGF-like sequences. Genetic variation at this locus has been associated with a range of behavioral phenotypes, including alcohol dependence and autism spectrum disorder. [provided by RefSeq, Dec 2012]

Details

Type
Protein Coding
Official Symbol
NRXN3
Official Name
neurexin 3 [Source:HGNC Symbol;Acc:HGNC:8010]
Ensembl ID
ENSG00000021645
Bio databases IDs NCBI: 9369 Ensembl: ENSG00000021645
Aliases neurexin 3
Synonyms 4933401A11RIK, C14ORF60, LOC100418878, LOC100505240, LOC108351353, neurexin 3, neurexin III, Nrxn3a
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 NRXN3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • signaling receptor activity
  • LNS repeats
  • LamG
  • cell adhesion molecule binding
  • protein binding
  • receptor binding
  • calcium channel regulator
  • EGF_CA
  • Concanavalin A-like lectin/glucanases superfamily
  • putative band 4.1 homologues' binding motif
  • Syndecan domain
  • transmembrane receptor
  • laminin G domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • non-insulin-dependent diabetes mellitus
  • idiopathic pulmonary fibrosis
  • obesity
  • diabetic retinopathy
  • hypertension
  • colorectal cancer
  • diabetes mellitus
  • major depression
  • schizophrenia
  • acute myeloid leukemia
regulated by
regulates
  • neurotransmitter
  • voltage-gated calcium channel
  • TAFA1
role in cell
  • expression in
  • guidance
  • formation
  • transmission
  • cell-cell adhesion
  • assembly

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
  • glutaminergic synapse
  • cell surface
  • cellular membrane
  • presynaptic membrane
  • synapse

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human NRXN3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • social behavior
  • signal transduction
  • angiogenesis
  • neuron cell-cell adhesion
  • axon guidance
  • learning
  • adult behavior
  • vocalization behavior

Cellular Component

Where in the cell the gene product is active
  • presynaptic membrane
  • cell projection
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • transmembrane signaling receptor activity
  • metal ion binding
  • signaling receptor activity
  • cell adhesion molecule binding
  • neuroligin family 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.