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8622 PDE8B

8622

PDE8B

phosphodiesterase 8B

protein-coding

Homo sapiens

基因描述

Type Description
Definition phosphodiesterase 8B

研究结论

Date Results Publications
2020-09-05 13:57:00 Clinical findings of autosomal-dominant striatal degeneration and PDE8B mutation screening in parkinsonism and related disorders. 31726290
2019-09-14 10:03:00 Study shows that PDE8B may not play a major role in familial and early-onset Parkinson disease without distinctive lesions of the striatum on brain MRI in this Taiwanese population. 29909144
2018-08-04 11:29:00 Single-nucleotide polymorphism in PDE8B gene is associated with Hashimoto's thyroiditis. 28382505
2018-03-10 11:02:00 replication confirmed at genome-wide significance the association of loci at FOXE1 with hypothyroidism, and PDE8B, CAPZB and PDE10A with serum TSH. A total of 12 SNPs seemed to explain nearly 7% of the serum TSH variation 28727628
2017-03-11 11:37:00 a heterozygous nonsense mutation in the first exon of cyclic nucleotide phosphodiesterase 8B gene, which is predicted to disrupt all important functional domains of the cyclic nucleotide phosphodiesterase 8B protein, in two members of family with autosomal-dominant striatal degeneration 26769607

名称对应

Type IDs
Synonymous ADSD, PPNAD3
Gene
UniProtKB-ID: PDE8B_HUMAN, B3KN77_HUMAN
UniprotKB: O95263, B3KN77
UniParc: UPI0000001BBE, UPI000015F57C, UPI00001AADF1, UPI000007475F, UPI000007475D, UPI000007475E, UPI000000DA24
EMBL: CH471084, AY129949, AB085826, AB085824, AB085825, AB085827, AY129948, AL831924, BC043209, AY129950, AF079529, AK023913, AY423729
Ensembl: ENSG00000113231
KO: hsa:8622
Nucleutide sequences
EMBL-CDS: BAC53764.1, CAD38584.1, AAN71724.1, AAN71727.1, AAC69564.2, EAW95803.1, BAC53762.1, AAN71725.1, AAN71723.1, AAS00492.1, BAC53765.1, AAN71726.1, BAC53763.1, BAG51239.1
Gene_ORFName: PIG22
Ensembl_TRS: ENST00000342343, ENST00000264917, ENST00000333194, ENST00000340978, ENST00000346042, ENST00000505283
Protein sequencees
Ensembl_PRO: ENSP00000345446, ENSP00000330428, ENSP00000423461, ENSP00000345646, ENSP00000264917, ENSP00000331336
RefSeq: NP_001336680.1, NP_003710.1, NP_001025024.1, NP_001336681.1, NP_001336677.1, NP_001362991.1, NP_001336682.1, NP_001362998.1, NP_001362999.1, XP_011542002.1, XP_011542001.1, NP_001362997.1, NP_001025023.1, NP_001363001.1, NP_001336679.1, NP_001363004.1, NP_001362996.1, NP_001363002.1, XP_011542006.1, NP_001362994.1, NP_001363000.1, NP_001025025.1, NP_001362995.1, NP_001362992.1, NP_001362993.1, XP_006714789.1, NP_001025022.1, NP_001363003.1, NP_001336678.1
Others
UniRef100: UniRef100_A0A2R8Y4E6, UniRef100_O95263
UniRef90: UniRef90_A0A2R8Y4E6, UniRef90_O95263
UniRef50: UniRef50_O95263
UniGene: Hs.584830
CCDS: CCDS34193.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS4037.1

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研究热度

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