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10681 GNB5

10681

GNB5

G protein subunit beta 5

protein-coding

Homo sapiens

基因描述

Type Description
Definition G protein subunit beta 5

研究结论

Date Results Publications
2021-02-02 13:24:00 IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations. 32203251
2020-12-05 13:01:00 [Intellectual developmental disorder with cardiac arrhythmia syndrome in a family caused by GNB5 variation and literature review]. 32987464
2020-05-09 13:33:00 provide mechanistic insights and proof of principle for potential therapy in patients carrying GNB5 mutations 31208990
2020-05-02 12:10:00 GNB5 overexpression contributes to cetuximab resistance in colorectal cancer. 30719834
2020-04-18 11:28:00 GNB5 developmental and epileptic encephalopathy is characterized by epileptic spasms, focal seizures, and profound impairment. 31631344

名称对应

Type IDs
Synonymous GB5, IDDCA, LADCI
Gene
UniProtKB-ID: GNB5_HUMAN, A0A024R5V3_HUMAN, A0A024R5R9_HUMAN
UniprotKB: O14775, A0A024R5V3, A0A024R5R9
UniParc: UPI0000071940, UPI000006E214, UPI000012B21B
EMBL: AF017656, CH471082, BC013997, AF501885, AL117471, AF300650, AK314775
Ensembl: ENSG00000069966
KO: hsa:10681
Nucleutide sequences
EMBL-CDS: CAB55946.1, AAM15921.1, AAC63826.1, BAG37312.1, AAG18444.1, AAH13997.1, EAW77437.1, EAW77443.1, EAW77442.1, EAW77436.1
Gene_ORFName: hCG_40503, hCG_40503
Ensembl_TRS: ENST00000358784, ENST00000261837, ENST00000396335
Protein sequencees
Ensembl_PRO: ENSP00000351635, ENSP00000379626, ENSP00000261837
RefSeq: XP_011519464.1, NP_006569.1, NP_057278.2, NP_001366272.1, XP_016877356.1
Others
UniRef100: UniRef100_A0A024R5R9, UniRef100_O14775
UniRef90: UniRef90_A0A024R5R9, UniRef90_O14775
UniRef50: UniRef50_O14775, UniRef50_S9YFA9
UniGene: Hs.155090
CCDS: CCDS10149.1, CCDS45261.1

全选

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研究热度

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