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51422 PRKAG2

51422

PRKAG2

protein kinase AMP-activated non-catalytic subunit gamma 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition protein kinase AMP-activated non-catalytic subunit gamma 2

研究结论

Date Results Publications
2021-04-03 13:36:00 Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis. 32646569
2021-03-20 13:33:00 Phenotypic expression and clinical outcomes in a South Asian PRKAG2 cardiomyopathy cohort. 33244021
2021-02-02 13:24:00 Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. 32233023
2021-02-02 13:24:00 Identification, clinical manifestation and structural mechanisms of mutations in AMPK associated cardiac glycogen storage disease. 32259713
2019-09-14 11:02:00 eQTL analysis found that rs10224002 was associated with PRKAG2 gene expression in peripheral blood (P = 0.0016). PRKAG2 was differentially expressed between hypertension cases and controls (P = 0.0133), coronary artery disease cases and controls (P = 0.02112) and stroke cases and controls (P = 0.0059). 30689184

名称对应

Type IDs
Synonymous AAKG, AAKG2, CMH6, H91620p, WPWS
Gene
UniProtKB-ID: AAKG2_HUMAN, A0A384MDZ2_HUMAN, B7Z6X8_HUMAN, E9PGP6_HUMAN, A0A494C1K7_HUMAN, A0A494C068_HUMAN, A0A090N8Q6_HUMAN
UniprotKB: Q9UGJ0, A0A384MDZ2, B7Z6X8, E9PGP6, A0A494C1K7, A0A494C068, A0A090N8Q6
UniParc: UPI00001250B5, UPI0001915110, UPI0002065705, UPI000020F369, UPI000002A304, UPI0003ABC1EB, UPI000226974F
EMBL: AC006358, BC020540, AJ249976, AK001887, AC093583, AK301123, AC006966, BT007127, AACC02000108, AC074257, KF510996, AB025580, AF087875, BC068598, CH471173, GQ900975
Ensembl: ENSG00000106617
KO: hsa:51422
Nucleutide sequences
EMBL-CDS: AAF03528.2, BAA91962.1, BAA84695.1, AAH68598.1, CAB65116.1, AAP35791.1, AAS02032.1, AAK00413.1, AAH20540.2, EAW53984.1, ADO22492.1, BAH13414.1, EAL24516.1, EAW53983.1
Gene_ORFName: hCG_2043270, hCG_2043270, tcag7.766
Ensembl_TRS: ENST00000418337, ENST00000651764, ENST00000652159, ENST00000476632, ENST00000392801, ENST00000651378, ENST00000287878, ENST00000492843, ENST00000652047, ENST00000650858
Protein sequencees
Ensembl_PRO: ENSP00000387386, ENSP00000419493, ENSP00000376549, ENSP00000499025, ENSP00000287878, ENSP00000498796, ENSP00000499103, ENSP00000419577, ENSP00000499111, ENSP00000498384
RefSeq: XP_011514588.1, XP_016867758.1, XP_016867763.1, XP_016867760.1, XP_011514589.1, NP_001291456.1, XP_016867764.1, XP_024302556.1, XP_006716084.1, XP_011514586.1, XP_016867769.1, XP_024302557.1, XP_005250059.1, XP_016867767.1, NP_001035723.1, XP_016867757.1, XP_024302554.1, NP_057287.2, NP_001350627.1, XP_011514585.1, XP_016867770.1, NP_001291460.1, XP_005250061.1, XP_016867765.1, XP_016867768.1, XP_005250063.1, NP_077747.1, XP_011514584.1, XP_011514587.1, XP_016867761.1, XP_016867759.1, XP_016867766.1, XP_024302555.1
Others
UniRef100: UniRef100_E9PGP6, UniRef100_B7Z6X8, UniRef100_Q9UGJ0, UniRef100_A0A494C1K7
UniRef90: UniRef90_Q5R4S0, UniRef90_Q9UGJ0, UniRef90_A0A2I3MAW2
UniRef50: UniRef50_Q9UGJ0, UniRef50_F7AZI9
UniGene: Hs.647072
CCDS: CCDS47752.1, CCDS43683.1, CCDS5928.1

全选

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