CNTNAP2
entrez
26047
canonical
uniprot
Q9UHC6
canonical
ensembl
ENSG00000174469
resolver
ensembl
ENSG00000278728
resolver
ensp
ENSP00000354778
resolver
genesymbol
CNTNAP2
resolver
genesymbol_syn
CASPR2
resolver
genesymbol_syn
KIAA0868
resolver
hgnc
HGNC:13830
resolver
uniprot
B2RCH4
resolver
uniprot
D3DWG2
resolver
uniprot
Q14DG2
resolver
uniprot
Q52LV1
resolver
uniprot
Q5H9Q7
resolver
uniprot
Q9UQ12
resolver
uniprot_entry
B2RCH4_HUMAN
resolver
uniprot_entry
CNTP2_HUMAN
resolver
uniprot_sec
D3DWG2
resolver
uniprot_sec
Q14DG2
resolver
uniprot_sec
Q52LV1
resolver
uniprot_sec
Q5H9Q7
resolver
uniprot_sec
Q9UQ12
resolver
amino_acid_sequence
MQAAPRAGCGAALLLWIVSSCLCRAWTAPSTSQKCDEPLVSGLPHVAFSSSSSISGSYSPGYAKINKRGGAGGWSPSDSDHYQWLQVDFGNRKQISAIATQGRYSSSDWVTQYRMLYSDTGRNWKPYHQDGNIWAFPGNINSDGVVRHELQHPIIARYVRIVPLDWNGEGRIGLRIEVYGCSYWADVINFDGHVVLPYRFRNKKMKTLKDVIALNFKTSESEGVILHGEGQQGDYITLELKKAKLVLSLNLGSNQLGPIYGHTSVMTGSLLDDHHWHSVVIERQGRSINLTLDRSMQHFRTNGEFDYLDLDYEITFGGIPFSGKPSSSSRKNFKGCMESINYNGVNITDLARRKKLEPSNVGNLSFSCVEPYTVPVFFNATSYLEVPGRLNQDLFSVSFQFRTWNPNGLLVFSHFADNLGNVEIDLTESKVGVHINITQTKMSQIDISSGSGLNDGQWHEVRFLAKENFAILTIDGDEASAVRTNSPLQVKTGEKYFFGGFLNQMNNSSHSVLQPSFQGCMQLIQVDDQLVNLYEVAQRKPGSFANVSIDMCAIIDRCVPNHCEHGGKCSQTWDSFKCTCDETGYSGATCHNSIYEPSCEAYKHLGQTSNYYWIDPDGSGPLGPLKVYCNMTEDKVWTIVSHDLQMQTPVVGYNPEKYSVTQLVYSASMDQISAITDSAEYCEQYVSYFCKMSRLLNTPDGSPYTWWVGKANEKHYYWGGSGPGIQKCACGIERNCTDPKYYCNCDADYKQWRKDAGFLSYKDHLPVSQVVVGDTDRQGSEAKLSVGPLRCQGDRNYWNAASFPNPSSYLHFSTFQGETSADISFYFKTLTPWGVFLENMGKEDFIKLELKSATEVSFSFDVGNGPVEIVVRSPTPLNDDQWHRVTAERNVKQASLQVDRLPQQIRKAPTEGHTRLELYSQLFVGGAGGQQGFLGCIRSLRMNGVTLDLEERAKVTSGFISGCSGHCTSYGTNCENGGKCLERYHGYSCDCSNTAYDGTFCNKDVGAFFEEGMWLRYNFQAPATNARDSSSRVDNAPDQQNSHPDLAQEEIRFSFSTTKAPCILLYISSFTTDFLAVLVKPTGSLQIRYNLGGTREPYNIDVDHRNMANGQPHSVNITRHEKTIFLKLDHYPSVSYHLPSSSDTLFNSPKSLFLGKVIETGKIDQEIHKYNTPGFTGCLSRVQFNQIAPLKAALRQTNASAHVHIQGELVESNCGASPLTLSPMSSATDPWHLDHLDSASADFPYNPGQGQAIRNGVNRNSAIIGGVIAVVIFTILCTLVFLIRYMFRHKGTYHTNEAKGAESAESADAAIMNNDPNFTETIDESKKEWLI
uniprot
proteins
disease_involvement
DISEASE: Autism 15 (AUTS15) [MIM:612100]: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. {ECO:0000269|PubMed:18179895}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; 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.; DISEASE: Pitt-Hopkins-like syndrome 1 (PTHSL1) [MIM:610042]: A syndrome characterized by severe intellectual disability and variable additional symptoms, such as impaired speech development, seizures, autistic behavior, breathing anomalies and a broad mouth, resembling Pitt-Hopkins syndrome. In contrast to patients with Pitt-Hopkins syndrome, PTHSL1 patients present with normal or only mildly to moderately delayed motor milestones. {ECO:0000269|PubMed:16571880, ECO:0000269|PubMed:19896112}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for gap junction formation (Probable). Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the juxtaparanodal region of the axo-glial junction. {ECO:0000250|UniProtKB:Q9CPW0, ECO:0000305|PubMed:33238150}.
uniprot
proteins
mass_dalton
148167
uniprot
proteins
protein_family
Neurexin family
uniprot
proteins
pubmed
10048485
uniprot
proteins
pubmed
10624965
uniprot
proteins
pubmed
11352571
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16571880
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18179895
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
19896112
uniprot
proteins
pubmed
25977097
uniprot
proteins
pubmed
33238150
uniprot
proteins
sequence_length
1331
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q9CPW0}; Single-pass type I membrane protein {ECO:0000305}. Cell projection, axon {ECO:0000250|UniProtKB:Q9CPW0}. Cell junction, paranodal septate junction {ECO:0000250|UniProtKB:Q9CPW0}. Note=Expressed in the juxtaparadonal region. {ECO:0000250|UniProtKB:Q9CPW0}.
uniprot
proteins
transmembrane_region
TRANSMEM 1263..1283; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins