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26047 CNTNAP2

26047

CNTNAP2

contactin associated protein like 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition contactin associated protein like 2

研究结论

Date Results Publications
2021-01-23 12:58:00 Disrupted AMPA Receptor Function upon Genetic- or Antibody-Mediated Loss of Autism-Associated CASPR2. 30843029
2020-09-12 16:05:00 CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension. 32424051
2020-05-23 12:43:00 Common variant of CNTNAP2 gene modulate the social performances and functional connectivity of posterior right temporoparietal junction. The A-allele carriers showed poor social performance (high AQ-social and short fixation time on eye areas) compared with the GG carriers. 31993662
2020-04-04 12:35:00 Contactin-associated protein-like 2 (CNTNAP2), a member of the neurexin superfamily, plays an essential role in neural development. 30681286
2020-02-29 11:28:00 Significant association between GDNF variant rs2973033 CNTNAP2 variant rs2530311 with gambling. 31446765

名称对应

Type IDs
Synonymous AUTS15, CASPR2, CDFE, NRXN4, PTHSL1
Gene
UniProtKB-ID: CNTP2_HUMAN, A0A090N7T7_HUMAN, B2RCH4_HUMAN
UniprotKB: Q9UHC6, A0A090N7T7, B2RCH4
UniParc: UPI000175078A, UPI00001285FA, UPI0000001A76
EMBL: AF318292, BC113373, AACC02000041, AK315113, CR933671, CH471146, AF318298, BC093780, AF193613, AF319045, AB020675
Ensembl: ENSG00000278728, ENSG00000174469
KO: hsa:26047
Nucleutide sequences
EMBL-CDS: AAK49902.1, EAW80084.1, AAI13374.1, AAK49903.1, BAA74891.1, AAK34932.1, AAH93780.1, CAI45967.1, AAF25199.1, EAL24417.1, EAW80083.1, BAG37571.1
Gene_ORFName: tcag7.496, hCG_15499
Ensembl_TRS: ENST00000463592, ENST00000361727, ENST00000613345
Protein sequencees
Ensembl_PRO: ENSP00000354778, ENSP00000486292, ENSP00000481057
RefSeq: XP_016867439.1, NP_054860.1
Others
UniRef100: UniRef100_Q9UHC6, UniRef100_B2RCH4
UniRef90: UniRef90_Q9UHC6
UniRef50: UniRef50_Q9UHC6
UniGene: Hs.655684
CCDS: CCDS5889.1

全选

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