GDF3

Chr 12p13.31

growth differentiation factor 3

MANE:: ENST00000329913.4

OMIM: 606522 ↗NCBI: 9573 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GDF3 · Q9NR23

v62025-08-01

Predicted Aligned Error matrix for GDF3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.5/ 100

Confident

364 residues

Confidence breakdown

Very high(≥ 90)48%
Confident(70–90)32%
Low(50–70)16%
Very low(< 50)5%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia or microphthalmia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial Neural Tube Defects
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ocular coloboma
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

isolated microphthalmia 7
0.63
microphthalmia, isolated, with coloboma
0.58
Isolated anophthalmia - microphthalmia
0.58
Klippel-Feil syndrome 3, autosomal dominant
0.49
Klippel-Feil syndrome
0.37
isolated Klippel-Feil syndrome
0.37
neurodegenerative disease
0.19
melanoma
0.08
metabolic dysfunction-associated steatohepatitis
0.08
Sepsis
0.07

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

Protein function (UniProt)

Growth/differentiation factor 3

Growth factor involved in early embryonic development and adipose-tissue homeostasis. During embryogenesis controls formation of anterior visceral endoderm and mesoderm and the establishment of anterior-posterior identity through a receptor complex comprising the receptor ACVR1B and the coreceptor CRIPTO (By similarity). Regulates adipose-tissue homeostasis and energy balance under nutrient overload in part by signaling through the receptor complex based on ACVR1C and CRIPTO/Cripto (PubMed:21805089)