CNTNAP2

Contactin-associated protein-like 2 is a protein that in humans is encoded by the CNTNAP2 gene.^[5][6][7]

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)[1] Band 7q35-q36.1 Start 146,116,002 bp[1] End 148,420,998 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6|6 B2.2- B2.3 Start 45,036,291 bp[2] End 47,281,147 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 26047 66797 Ensembl ENSG00000174469 ENSG00000278728 ENSMUSG00000039419 UniProt Q9UHC6 Q9CPW0 RefSeq (mRNA) NM_014141 NM_001004357 NM_025771 RefSeq (protein) NP_054860 NP_001004357 NP_080047 Location (UCSC) Chr 7: 146.12 – 148.42 Mb Chr 6: 45.04 – 47.28 Mb PubMed search [3] [4]
Wikidata
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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.^[8] It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness.^[7]

Clinical significance

CNTNAP2 has been associated with autism spectrum disorder but accounts for very few cases.^[9][10][11] A large study concluded it is unlikely to be a primary risk gene for psychiatric disorders.^[12] CNTNAP2 may also be related to a disorder called specific language impairment.^[13]

Homozygous and compound heterozygous mutations in CNTNAP2 result in a disorder that resembles Pitt–Hopkins syndrome.^[14][15]

Interactions

CNTNAP2 has been shown to interact with CNTN2.^[16]

See also

• Brett Abrahams, geneticist and neuroscientist