CNTN4 Gene Summary [Human]

This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]

Details

Type
Protein Coding
Official Symbol
CNTN4
Official Name
contactin 4 [Source:HGNC Symbol;Acc:HGNC:2174]
Ensembl ID
ENSG00000144619
Bio databases IDs NCBI: 152330 Ensembl: ENSG00000144619
Aliases contactin 4
Synonyms AXCAM, BIG-2, contactin 4
Species
Human, Homo sapiens
OrthologiesRat

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 CNTN4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • extracellular domain
  • FN3
  • immunoglobulin domain
  • Immunoglobulin like
  • Immunoglobulin I-set domain
  • Fibronectin type 3 domain
  • Immunoglobulin V-set domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
disease
  • amyotrophic lateral sclerosis
  • epithelial cancer
  • atypical femur fracture
  • atherosclerosis
  • schizophrenia
  • idiopathic scoliosis
  • thoracic aortic aneurysm
  • major depression
  • bipolar disorder
  • pervasive developmental disorder
regulated by
  • budesonide
role in cell
  • differentiation
  • development
  • guidance
  • morphogenesis
  • plasticity
  • fasciculation
  • cell-cell adhesion

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
  • Extracellular Space

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CNTN4 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • neuron projection development
  • synapse organization
  • negative regulation of neuron differentiation
  • nervous system development
  • axon guidance
  • neuron cell-cell adhesion
  • homophilic cell adhesion
  • brain development
  • axonal fasciculation
  • axonogenesis
  • dendrite self-avoidance
  • regulation of synaptic plasticity

Cellular Component

Where in the cell the gene product is active
  • synapse
  • extracellular region
  • plasma membrane
  • axon

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