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2661 GDF9

2661

GDF9

growth differentiation factor 9

protein-coding

Homo sapiens

基因描述

Type Description
Definition growth differentiation factor 9

研究结论

Date Results Publications
2021-01-02 12:51:00 A variant of human growth differentiation factor-9 that improves oocyte developmental competence. 32350111
2020-03-21 10:52:00 It was observed a statistically significant difference in genotype distribution of BMP15:c.852C>T between group POI and controls (p < 0.001). TT and TC genotypes were more frequently observed in group POI.. Concerning GDF9, no association was found among the studied genetic variants and POI or high FSH groups 31392662
2019-08-03 11:14:00 Here, the Targeted massively parallel sequencing identified the first homozygous 1-bp deletion variant in GDF9. This finding reveals a novel inheritance pattern of pathogenic variant in GDF9 associated with primary ovarian insufficiency (POI), thus improving the genetic diagnosis of this disorder. 29044499
2019-05-18 12:35:00 GDF9 promoted follicle-stimulating hormone (FSH)-induced progesterone production and STAR expression. 30851298
2019-03-09 12:44:00 GDF9 + BMP15, but not separately, significantly induce AMH expression in vitro and in vivo. GDF9 + BMP15, through the PI3K/Akt and Smad2/3 pathways synergistically recruit the coactivator p300 on the AMH promoter region that promotes acetylation of H3K27ac, facilitating AMH expression. 30060157

名称对应

Type IDs
Synonymous POF14
Gene
UniProtKB-ID: GDF9_HUMAN, B4DXG3_HUMAN
UniprotKB: O60383, B4DXG3
UniParc: UPI000012B396, UPI00017A812B
EMBL: AC004500, AK315973, BC096229, AK301962, BC096230, BC096228, BC096231
Ensembl: ENSG00000164404
KO: hsa:2661
Nucleutide sequences
EMBL-CDS: AAH96229.1, AAH96230.1, AAH96228.1, AAC08450.1, AAH96231.1, BAH14344.1, BAG63375.1
Ensembl_TRS: ENST00000378673, ENST00000621295, ENST00000624492, ENST00000296875, ENST00000624495
Protein sequencees
Ensembl_PRO: ENSP00000367942, ENSP00000484339, ENSP00000485037, ENSP00000485231, ENSP00000296875
RefSeq: NP_005251.1, XP_006714648.1, XP_011541612.1, NP_001275755.1, XP_011541611.1, NP_001275753.1, XP_011541613.1, NP_001275756.1, XP_005272014.1, XP_011541610.1, NP_001275757.1, NP_001275754.1
Others
UniRef100: UniRef100_O60383
UniRef90: UniRef90_O60383
UniRef50: UniRef50_O60383
UniGene: Hs.25022
CCDS: CCDS4162.1

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