Type | Description |
---|---|
Definition | G protein subunit beta 5 |
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 |
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
|
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Refseq |
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