Type | Description |
---|---|
Definition | phosphodiesterase 8B |
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 |
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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