ID:CNTP2_HUMAN DESCRIPTION: RecName: Full=Contactin-associated protein-like 2; AltName: Full=Cell recognition molecule Caspr2; Flags: Precursor; FUNCTION: May play a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Seems to demarcate the juxtaparanodal region of the axo-glial junction. SUBUNIT: Associates with KCNA2 (By similarity). SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential). TISSUE SPECIFICITY: Predominantly expressed in nervous system. DISEASE: Defects in CNTNAP2 are the cause of cortical dysplasia- focal epilepsy syndrome (CDFES) [MIM:610042]. Affected individuals manifest cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes. Intractable focal seizures begin in early childhood, after which language regression, hyperactivity, impulsive and aggressive behavior, and mental retardation develop. DISEASE: Genetic variations in CNTNAP2 influences susceptibility to autism type 15 (AUTS15) [MIM:612100]. Autism is a neurodevelopmental disorder characterized by disturbance in language, perception and socialization. The disorder is classically defined by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypical, and ritualized patterns of interests and behavior. DISEASE: Note=A chromosomal aberration involving CNTNAP2 is found in a patient with autism spectrum disorder. Paracentric inversion 46,XY,inv(7)(q11.22;q35). The inversion breakpoints disrupt the genes AUTS2 and CNTNAP2. SIMILARITY: Belongs to the neurexin family. SIMILARITY: Contains 2 EGF-like domains. SIMILARITY: Contains 1 F5/8 type C domain. SIMILARITY: Contains 1 fibrinogen C-terminal domain. SIMILARITY: Contains 4 laminin G-like domains. SEQUENCE CAUTION: Sequence=BAA74891.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UHC6
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
