contactin-associated protein-like 2; cell recognition molecule Caspr2 (CNTNAP2, CASPR2, LG1, KIAA0868)
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Function
- formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers
- demarcates juxtaparanodal region of the axo-glial junction
- interacts (via C-terminus) with KCNA2
Structure
- belongs to the neurexin family
- contains 2 EGF-like domains
- contains 1 F5/8 type C domain
- contains 1 fibrinogen C-terminal domain
- contains 4 laminin G-like domains
Compartment
- membrane, single-pass type 1 membrane protein
- cell projection, axon
Alternative splicing
named isoforms=2
Expression
predominantly expressed in nervous system
Pathology
- defects in CNTNAP2 are the cause of CDFE syndrome (cortical dysplasia-focal epilepsy syndrome )
- CASPR2 autoantibody associated with paraneoplastic limbic encephalitis[3]
- a chromosomal inversion inv(7)(q11.22;q35) involving CNTNAP2 is found in a patient with autism spectrum disorder
- the inversion breakpoints disrupt the genes AUTS2 & CNTNAP2
Polymorphism
- associations of single nucleotide polymorphisms (SNPs) in the CNTNAP2 gene & language impairment[2]
Laboratory
More general terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q9UHC6.html
- ↑ 2.0 2.1 Vernes SC et al A functional genetic link between distinct developmental language disorders. N Engl J Med 2008 Nov 27; 359:2337 PMID: https://www.ncbi.nlm.nih.gov/pubmed/18987363
Stromswold K. The genetics of speech and language impairments. N Engl J Med 2008 Nov 27; 359:2381 PMID: https://www.ncbi.nlm.nih.gov/pubmed/18987364 - ↑ 3.0 3.1 Medical Knowledge Self Assessment Program (MKSAP) 17, American College of Physicians, Philadelphia 2015
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=26047
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:26047
- OMIM: https://mirror.omim.org/entry/604569
- OMIM: https://mirror.omim.org/entry/610042
- OMIM: https://mirror.omim.org/entry/612100
- UniProt: http://www.uniprot.org/uniprot/Q9UHC6.html