GDF9

Chr 5q31.1

growth differentiation factor 9

MANE:: ENST00000687138.1

OMIM: 601918 ↗NCBI: 2661 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GDF9 · O60383

v62025-08-01

Predicted Aligned Error matrix for GDF9 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

66.3/ 100

Low

454 residues

Confidence breakdown

Very high(≥ 90)28%
Confident(70–90)20%
Low(50–70)16%
Very low(< 50)36%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Primary ovarian insufficiency
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

46,XX gonadal dysgenesis
0.73
genetic non-acquired premature ovarian failure
0.34
primary ovarian failure
0.22
Premature ovarian insufficiency
0.19
Isolated CoQ-cytochrome C reductase deficiency
0.15
polycystic ovary syndrome
0.11
endometriosis
0.07
kidney cancer
0.07
46,XX testicular disorder of sex development
0.06
male infertility with azoospermia or oligozoospermia due to single gene mutation
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Growth/differentiation factor 9

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