GDF11

Chr 12q13.2

growth differentiation factor 11

Aliases:: BMP-11, BMP11
MANE:: ENST00000257868.10

OMIM: 603936 ↗NCBI: 10220 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GDF11 · O95390

v62025-08-01

Predicted Aligned Error matrix for GDF11 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.1/ 100

Confident

407 residues

Confidence breakdown

Very high(≥ 90)28%
Confident(70–90)36%
Low(50–70)17%
Very low(< 50)20%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Currarino triad
Unknown

Disease associations (Open Targets)

vertebral hypersegmentation and orofacial anomalies
0.62
orofacial cleft
0.26
neurodegenerative disease
0.24
neurodevelopmental disorder
0.12
chronic obstructive pulmonary disease
0.10
hepatocellular carcinoma
0.09
major depressive disorder
0.09
neoplasm
0.09
schizophrenia
0.09
familial dilated cardiomyopathy
0.08

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

Protein function (UniProt)

Growth/differentiation factor 11

Secreted signal that acts globally to regulate anterior/posterior axial patterning during development. May play critical roles in patterning both mesodermal and neural tissues (By similarity). It is required for proper vertebral patterning and orofacial development (PubMed:31215115). Signals through activin receptors type-2, ACVR2A and ACVR2B, and activin receptors type-1, ACVR1B, ACVR1C and TGFBR1 leading to the phosphorylation of SMAD2 and SMAD3 (PubMed:28257634)