GDF10

Chr 10

growth differentiation factor 10

Also known as: BIP, BMP-3b, BMP3B

NCBI Gene: 2662ENSG00000266524UniProt: P55107

The protein is a secreted growth factor of the TGF-beta superfamily that regulates osteogenesis and adipogenesis by inhibiting osteoblast differentiation and adipogenesis through the SMAD2/3 pathway. Pathogenic variants in this gene cause autosomal recessive Klippel-Feil syndrome, characterized by congenital fusion of cervical vertebrae and associated skeletal malformations. The gene shows tolerance to loss-of-function variants (pLI 0.005), consistent with the recessive inheritance pattern.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
11
Pubs (1 yr)
52
P/LP submissions
0%
P/LP missense
0.84
LOEUF
DN
Mechanism· predicted
Clinical Summary— GDF10
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
52 unique Pathogenic / Likely Pathogenic· 100 VUS of 200 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.84LOEUF
pLI 0.005
Z-score 2.00
OE 0.43 (0.23–0.84)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.59Z-score
OE missense 0.91 (0.82–1.00)
284 obs / 313.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.43 (0.23–0.84)
0≤0.351.4
Missense OE0.91 (0.82–1.00)
0≤0.61.4
Synonymous OE1.02
0≤1.21.6
LoF obs/exp: 6 / 14.1Missense obs/exp: 284 / 313.2Syn Z: -0.19
DN
0.6552th %ile
GOF
0.4283th %ile
LOF
0.4135th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

200 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic35
Likely Pathogenic17
VUS100
Likely Benign4
Benign41
35
Pathogenic
17
Likely Pathogenic
100
VUS
4
Likely Benign
41
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
35
0
35
Likely Pathogenic
0
0
17
0
17
VUS
0
77
23
0
100
Likely Benign
0
1
3
0
4
Benign
0
1
39
1
41
Total0791171197

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

GDF10 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients