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contactin-associated protein-like 2; cell recognition molecule Caspr2 (CNTNAP2, CASPR2, LG1, KIAA0868)
Function:
1) formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers
2) demarcates juxtaparanodal region of the axo-glial junction
3) 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:
- CASPR2 autoantibody
Related
anti-CASPR2; anti-contactin-associated protein-like 2; anti-LG1
contactin
General
contactin-associated protein
glycoprotein
membrane protein
phosphoprotein
Properties
SIZE: MW = 148 kD
entity length = 1331 aa
COMPARTMENT: cytoplasm
MOTIF: signal sequence {1-27}
F5/8 TYPE C {35-181}
MOTIF: cysteine residue {C35}
MODIFICATION: cysteine residue {C181}
cysteine residue {C181}
MODIFICATION: cysteine residue {C35}
LAMININ G-LIKE 1 {216-368}
MOTIF: N-glycosylation site {N289}
cysteine residue {C336}
MODIFICATION: cysteine residue {C368}
N-glycosylation site {N346}
N-glycosylation site {N363}
cysteine residue {C368}
MODIFICATION: cysteine residue {C336}
N-glycosylation site {N379}
LAMININ G-LIKE 2 {401-552}
MOTIF: N-glycosylation site {N436}
N-glycosylation site {N506}
N-glycosylation site {N507}
cysteine residue {C520}
MODIFICATION: cysteine residue {C552}
N-glycosylation site {N546}
cysteine residue {C552}
MODIFICATION: cysteine residue {C520}
EGF domain {554-591}
MOTIF: cysteine residue {C558}
MODIFICATION: cysteine residue {C569}
cysteine residue {C563}
MODIFICATION: cysteine residue {C578}
cysteine residue {C569}
MODIFICATION: cysteine residue {C558}
cysteine residue {C578}
MODIFICATION: cysteine residue {C563}
cysteine residue {C580}
MODIFICATION: cysteine residue {C590}
cysteine residue {C590}
MODIFICATION: cysteine residue {C580}
N-glycosylation site {N630}
N-glycosylation site {N735}
LAMININ G-LIKE 3 {827-963}
MOTIF: cysteine residue {C936}
MODIFICATION: cysteine residue {C963}
EGF domain {963-1002}
MOTIF: cysteine residue {C963}
MODIFICATION: cysteine residue {C936}
cysteine residue {C967}
MODIFICATION: cysteine residue {C980}
cysteine residue {C974}
MODIFICATION: cysteine residue {C989}
cysteine residue {C980}
MODIFICATION: cysteine residue {C967}
cysteine residue {C989}
MODIFICATION: cysteine residue {C974}
cysteine residue {C991}
MODIFICATION: cysteine residue {C1001}
cysteine residue {C1001}
MODIFICATION: cysteine residue {C991}
LAMININ G-LIKE 4 {1055-1214}
MOTIF: N-glycosylation site {N1116}
cysteine residue {C1178}
MODIFICATION: cysteine residue {C1214}
N-glycosylation site {N1198}
cysteine residue {C1214}
MODIFICATION: cysteine residue {C1178}
transmembrane domain {1263-1283}
Database Correlations
OMIM correlations
MORBIDMAP 604569
UniProt Q9UHC6
PFAM correlations
Entrez Gene 26047
Kegg hsa:26047
References
- UniProt :accession Q9UHC6
- Vernes SC et al
A functional genetic link between distinct developmental
language disorders.
N Engl J Med 2008 Nov 27; 359:2337
PMID: 18987363
- Stromswold K.
The genetics of speech and language impairments.
N Engl J Med 2008 Nov 27; 359:2381
PMID: 18987364
- Medical Knowledge Self Assessment Program (MKSAP) 17,
American College of Physicians, Philadelphia 2015