CNTN2
entrez
6900
canonical
uniprot
Q02246
canonical
ensembl
ENSG00000184144
resolver
ensp
ENSP00000330633
resolver
ensp
ENSP00000489754
resolver
ensp
ENSP00000491671
resolver
ensp
ENSP00000492495
resolver
ensp
ENSP00000492617
resolver
enst
ENST00000331830
resolver
enst
ENST00000638378
resolver
enst
ENST00000639302
resolver
enst
ENST00000640326
resolver
genesymbol
CNTN2
resolver
genesymbol_syn
AXT
resolver
genesymbol_syn
TAG1
resolver
genesymbol_syn
TAX1
resolver
hgnc
HGNC:2172
resolver
uniprot
A1L3A3
resolver
uniprot
P78432
resolver
uniprot
Q5T054
resolver
uniprot_entry
A1L3A3_HUMAN
resolver
uniprot_entry
CNTN2_HUMAN
resolver
uniprot_sec
P78432
resolver
uniprot_sec
Q5T054
resolver
amino_acid_sequence
MGTATRRKPHLLLVAAVALVSSSAWSSALGSQTTFGPVFEDQPLSVLFPEESTEEQVLLACRARASPPATYRWKMNGTEMKLEPGSRHQLVGGNLVIMNPTKAQDAGVYQCLASNPVGTVVSREAILRFGFLQEFSKEERDPVKAHEGWGVMLPCNPPAHYPGLSYRWLLNEFPNFIPTDGRHFVSQTTGNLYIARTNASDLGNYSCLATSHMDFSTKSVFSKFAQLNLAAEDTRLFAPSIKARFPAETYALVGQQVTLECFAFGNPVPRIKWRKVDGSLSPQWTTAEPTLQIPSVSFEDEGTYECEAENSKGRDTVQGRIIVQAQPEWLKVISDTEADIGSNLRWGCAAAGKPRPTVRWLRNGEPLASQNRVEVLAGDLRFSKLSLEDSGMYQCVAENKHGTIYASAELAVQALAPDFRLNPVRRLIPAARGGEILIPCQPRAAPKAVVLWSKGTEILVNSSRVTVTPDGTLIIRNISRSDEGKYTCFAENFMGKANSTGILSVRDATKITLAPSSADINLGDNLTLQCHASHDPTMDLTFTWTLDDFPIDFDKPGGHYRRTNVKETIGDLTILNAQLRHGGKYTCMAQTVVDSASKEATVLVRGPPGPPGGVVVRDIGDTTIQLSWSRGFDNHSPIAKYTLQARTPPAGKWKQVRTNPANIEGNAETAQVLGLTPWMDYEFRVIASNILGTGEPSGPSSKIRTREAAPSVAPSGLSGGGGAPGELIVNWTPMSREYQNGDGFGYLLSFRRQGSTHWQTARVPGADAQYFVYSNESVRPYTPFEVKIRSYNRRGDGPESLTALVYSAEEEPRVAPTKVWAKGVSSSEMNVTWEPVQQDMNGILLGYEIRYWKAGDKEAAADRVRTAGLDTSARVSGLHPNTKYHVTVRAYNRAGTGPASPSANATTMKPPPRRPPGNISWTFSSSSLSIKWDPVVPFRNESAVTGYKMLYQNDLHLTPTLHLTGKNWIEIPVPEDIGHALVQIRTTGPGGDGIPAEVHIVRNGGTSMMVENMAVRPAPHPGTVISHSVAMLILIGSLEL
uniprot
proteins
disease_involvement
DISEASE: Epilepsy, early-onset, 5, with or without developmental delay (EPEO5) [MIM:615400]: An autosomal recessive neurologic disorder characterized by a combination of various seizure types with onset in the first decade of life or during adolescence. Most patients have developmental delay, impaired intellectual development, and behavioral abnormalities. {ECO:0000269|PubMed:23518707}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be involved in cell adhesion. {ECO:0000269|PubMed:23518707}.
uniprot
proteins
mass_dalton
113393
uniprot
proteins
protein_family
Contactin family
uniprot
proteins
protein_family
Immunoglobulin superfamily
uniprot
proteins
pubmed
15340161
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17766378
uniprot
proteins
pubmed
23518707
uniprot
proteins
pubmed
8307567
uniprot
proteins
pubmed
8425542
uniprot
proteins
pubmed
8586412
uniprot
proteins
sequence_length
1040
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor. Note=Attached to the neuronal membrane by a GPI-anchor and is also released from neurons.
uniprot
proteins