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50940 PDE11A

50940

PDE11A

phosphodiesterase 11A

protein-coding

Homo sapiens

基因描述

Type Description
Definition phosphodiesterase 11A

研究结论

Date Results Publications
2016-09-24 11:34:00 One percent of the Swedish population carries a PDE11A loss-of-function mutation which is associated with elevated BP, abdominal obesity, and risk of ischemic stroke. 26820475
2016-07-16 10:04:00 Testicular germ cell tumors had 55 PDE11A variants: 20 missense (10 new, 9 in transcript variant 4, 1 in transcript variant 3), 4 splice-site, 2 nonsense, 7 synonymous, and 22 intronic. p.F258Y, p.G291R, p.V820M, p.R545X, and p.K568R were only in cases. 26459559
2013-01-26 10:19:00 PDE11A genetic variants may increase predisposition to ACTH-independent macronodular adrenal hyperplasia. 22996146
2012-01-21 11:41:00 found in single nerve trunks in the clitoral stroma 21697861
2011-02-05 11:42:00 Our data suggest that, like in the adrenal cortex and the testicular germ cells, PDE11A-inactivating genetic alterations may play a role in susceptibility to prostate cancer 20881257

名称对应

Type IDs
Synonymous PPNAD2
Gene
UniProtKB-ID: PDE11_HUMAN
UniprotKB: Q9HCR9
UniParc: UPI0000209162, UPI0000E5D21A, UPI00001402CB, UPI00001402C1
EMBL: BC114431, AJ251509, AC073834, AJ278682, AC073892, AC083824, AF281865, AB036704, AC012499, AC011998, BC112393, AB048423, AB038041
Ensembl: ENSG00000128655
KO: hsa:50940
Nucleutide sequences
EMBL-CDS: CAB82573.1, AAG32023.1, BAB62713.2, AAI14432.1, BAB62712.1, AAY14803.1, AAI12394.1, BAB16371.1, BAB16372.1, CAC15567.1, BAB62714.1
Ensembl_TRS: ENST00000409504, ENST00000389683, ENST00000286063
Protein sequencees
Ensembl_PRO: ENSP00000374333, ENSP00000386539, ENSP00000286063
RefSeq: NP_001070664.1, NP_058649.3, NP_001070826.1, NP_001070665.1
Others
UniRef100: UniRef100_Q9HCR9
UniRef90: UniRef90_Q9HCR9
UniRef50: UniRef50_Q9HCR9
UniGene: Hs.570273
CCDS: CCDS42786.1, CCDS33334.1, CCDS46459.1, CCDS42785.1

全选

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