CNTNAP2

CNTNAP2
Identifiers
Aliases	CNTNAP2, AUTS15, CASPR2, CDFE, NRXN4, PTHSL1, contactin associated protein-like 2, contactin associated protein like 2, contactin associated protein 2
External IDs	OMIM: 604569; MGI: 1914047; HomoloGene: 69159; GeneCards: CNTNAP2; OMA:CNTNAP2 - orthologs
Gene location (Human)
Chr.	Chromosome 7 (human)
End	148,420,998 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	47,281,147 bp
RNA expression pattern
	Top expressed in
	corpus callosum; ; superior frontal gyrus; ; C1 segment; ; primary visual cortex; ; prefrontal cortex; ; Brodmann area 9; ; ganglionic eminence; ; right frontal lobe; ; anterior cingulate cortex; ; substantia nigra;
	Top expressed in
	substantia nigra; ; vestibular membrane of cochlear duct; ; retinal pigment epithelium; ; molar; ; lateral hypothalamus; ; habenula; ; olfactory tubercle; ; transitional epithelium of urinary bladder; ; motor neuron; ; nucleus accumbens;
	More reference expression data
	n/a
Gene ontology
Molecular function	enzyme binding; protein binding;
Cellular component	perikaryon; Golgi apparatus; cell projection; cell surface; soma; dendrite; early endosome; axolemma; juxtaparanode region of axon; integral component of membrane; membrane; axon; voltage-gated potassium channel complex; cell junction; paranodal junction;
Biological process	clustering of voltage-gated potassium channels; thalamus development; transmission of nerve impulse; limbic system development; learning; neuron recognition; vocal learning; brain development; vocalization behavior; cell adhesion; adult behavior; cerebral cortex development; social behavior; superior temporal gyrus development; neuron projection development; striatum development; protein localization to juxtaparanode region of axon; neuron projection morphogenesis;
	Sources:Amigo / QuickGO
Orthologs
	26047
	66797
	ENSG00000174469; ENSG00000278728
	ENSMUSG00000039419
	Q9UHC6
	Q9CPW0
	NM_014141
	NM_001004357; NM_025771
	NP_054860
	NP_001004357; NP_080047
	Wikidata
View/Edit Human	View/Edit Mouse

Contactin-associated protein-like 2 is a protein that in humans is encoded by the CNTNAP2 gene.

This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons and associated with potassium channels. It may play a role in the local differentiation of the axon into distinct functional subdomains. This gene encompasses almost 1.6% of chromosome 7 and is one of the largest genes in the human genome. It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness.