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1260 CNGA2

1260

CNGA2

cyclic nucleotide gated channel alpha 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition cyclic nucleotide gated channel alpha 2

研究结论

Date Results Publications
2018-12-22 10:29:00 The studies findings provides strong support for role of CNGA2 gene with pathogenicity of isolated congenital anosmia in humans. Together, these results indicate that mutations in key olfactory signaling pathway genes are responsible for human disease. 28572688
2016-07-16 10:38:00 Identification of a novel X-linked stop mutation in CNGA2 (c.634C>T, p.R212*) in two brothers with isolated congenital anosmia. 25156905
2010-01-21 00:00:00 The results showed that it is predominantly the charge of the E342 residue in the P-loop, rather than the pore helix dipoles, which controls the cation-anion selectivity of the CNGA2 channel. 16533895

名称对应

Type IDs
Synonymous CNCA, CNCA1, CNG2, OCNC1, OCNCALPHA, OCNCa
Gene
UniProtKB-ID: CNGA2_HUMAN, B3KXY3_HUMAN
UniprotKB: Q16280, B3KXY3
UniParc: UPI00004A292E, UPI000003E7AE
EMBL: BC126302, AK128186, BC126304, S76067
Ensembl: ENSG00000183862
KO: hsa:1260
Nucleutide sequences
EMBL-CDS: AAI26303.1, AAD14207.1, AAI26305.1, BAG54645.1
Ensembl_TRS: ENST00000329903
Protein sequencees
Ensembl_PRO: ENSP00000328478
RefSeq: NP_005131.1
Others
UniRef100: UniRef100_B3KXY3, UniRef100_Q16280
UniRef90: UniRef90_Q00195
UniRef50: UniRef50_Q16281
UniGene: Hs.447360
CCDS: CCDS14701.1

全选

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研究热度

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