GDF9
entrez
2661
canonical
uniprot
O60383
canonical
ensembl
ENSG00000164404
resolver
ensp
ENSP00000296875
resolver
ensp
ENSP00000367942
resolver
ensp
ENSP00000484339
resolver
ensp
ENSP00000485037
resolver
ensp
ENSP00000485231
resolver
ensp
ENSP00000509893
resolver
ensp
ENSP00000510441
resolver
enst
ENST00000296875
resolver
enst
ENST00000378673
resolver
enst
ENST00000464378
resolver
enst
ENST00000621295
resolver
enst
ENST00000624492
resolver
enst
ENST00000624495
resolver
enst
ENST00000687138
resolver
genesymbol
GDF9
resolver
hgnc
HGNC:4224
resolver
uniprot
A0A096LNH9
resolver
uniprot
B4DXG3
resolver
uniprot
Q4VAW5
resolver
uniprot_entry
A0A096LNH9_HUMAN
resolver
uniprot_entry
B4DXG3_HUMAN
resolver
uniprot_entry
GDF9_HUMAN
resolver
uniprot_sec
Q4VAW5
resolver
amino_acid_sequence
MARPNKFLLWFCCFAWLCFPISLGSQASGGEAQIAASAELESGAMPWSLLQHIDERDRAGLLPALFKVLSVGRGGSPRLQPDSRALHYMKKLYKTYATKEGIPKSNRSHLYNTVRLFTPCTRHKQAPGDQVTGILPSVELLFNLDRITTVEHLLKSVLLYNINNSVSFSSAVKCVCNLMIKEPKSSSRTLGRAPYSFTFNSQFEFGKKHKWIQIDVTSLLQPLVASNKRSIHMSINFTCMKDQLEHPSAQNGLFNMTLVSPSLILYLNDTSAQAYHSWYSLHYKRRPSQGPDQERSLSAYPVGEEAAEDGRSSHHRHRRGQETVSSELKKPLGPASFNLSEYFRQFLLPQNECELHDFRLSFSQLKWDNWIVAPHRYNPRYCKGDCPRAVGHRYGSPVHTMVQNIIYEKLDSSVPRPSCVPAKYSPLSVLTIEPDGSIAYKEYEDMIATKCTCR
uniprot
proteins
disease_involvement
DISEASE: Note=Altered GDF9 function may be involved in ovarian disorders and contribute to the likelihood of dizygotic twinning. {ECO:0000269|PubMed:16954162}.; DISEASE: Premature ovarian failure 14 (POF14) [MIM:618014]: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269|PubMed:16278619, ECO:0000269|PubMed:16645022, ECO:0000269|PubMed:16954162, ECO:0000269|PubMed:17156781, ECO:0000269|PubMed:17482612, ECO:0000269|PubMed:19438907, ECO:0000269|PubMed:29044499}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for ovarian folliculogenesis. Promotes primordial follicle development. Stimulates granulosa cell proliferation. Promotes cell transition from G0/G1 to S and G2/M phases, through an increase of CCND1 and CCNE1 expression, and RB1 phosphorylation. It regulates STAR expression and cAMP-dependent progesterone release in granulosa and thecal cells. Attenuates the suppressive effects of activin A on STAR expression and progesterone production by increasing the expression of inhibin B. It suppresses FST and FSTL3 production in granulosa-lutein cells. {ECO:0000269|PubMed:12050262, ECO:0000269|PubMed:19366876, ECO:0000269|PubMed:20660033, ECO:0000269|PubMed:21632818, ECO:0000269|PubMed:21829661}.
uniprot
proteins
mass_dalton
51444
uniprot
proteins
post_translational_modification
PTM: Phosphorylated; phosphorylation is critical for GDF9 function. In vitro, can be phosphorylated by CK at Ser-325. {ECO:0000269|PubMed:18006624, ECO:0000269|PubMed:20067794}.
uniprot
proteins
protein_family
TGF-beta family
uniprot
proteins
pubmed
10443672
uniprot
proteins
pubmed
12050262
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16278619
uniprot
proteins
pubmed
16645022
uniprot
proteins
pubmed
16954162
uniprot
proteins
pubmed
17156781
uniprot
proteins
pubmed
17482612
uniprot
proteins
pubmed
18006624
uniprot
proteins
pubmed
19366876
uniprot
proteins
pubmed
19438907
uniprot
proteins
pubmed
20067794
uniprot
proteins
pubmed
20660033
uniprot
proteins
pubmed
21632818
uniprot
proteins
pubmed
21829661
uniprot
proteins
pubmed
21970812
uniprot
proteins
pubmed
29044499
uniprot
proteins
sequence_length
454
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
uniprot
proteins