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GDF5

Chr 20q11.22

growth differentiation factor 5

Aliases:
CDMP1, BMP14
MANE:
ENST00000374369.8
OMIM: 601146 ↗NCBI: 8200 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Fetal anomalies

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Limb disorders

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Skeletal dysplasia

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Intellectual disability

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • VACTERL-like phenotypes

  • Osteogenesis imperfecta

Disease associations (Open Targets)

  • brachydactyly type C

    0.76

  • acromesomelic dysplasia 2B

    0.75

  • multiple synostoses syndrome 2

    0.75

  • brachydactyly type A2

    0.74

  • symphalangism, proximal, 1B

    0.72

  • Acromesomelic dysplasia, Grebe type

    0.70

  • brachydactyly type A1

    0.69

  • Acromesomelic dysplasia, Hunter-Thomson type

    0.66

  • acromesomelic dysplasia 2A

    0.66

  • acromesomelic dysplasia 2C, Hunter-Thompson type

    0.64

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

Protein function (UniProt)

Growth/differentiation factor 5

Growth factor involved in bone and cartilage formation. During cartilage development regulates differentiation of chondrogenic tissue through two pathways. Firstly, positively regulates differentiation of chondrogenic tissue through its binding of high affinity with BMPR1B and of less affinity with BMPR1A, leading to induction of SMAD1-SMAD5-SMAD8 complex phosphorylation and then SMAD protein signaling transduction (PubMed:15530414, PubMed:21976273, PubMed:24098149, PubMed:25092592). Secondly, negatively regulates chondrogenic differentiation through its interaction with NOG (PubMed:21976273). Required to prevent excessive muscle loss upon denervation. This function requires SMAD4 and is mediated by phosphorylated SMAD1/5/8 (By similarity). Binds bacterial lipopolysaccharide (LPS) and mediates LPS-induced inflammatory response, including TNF secretion by monocytes (PubMed:11276205)

Diseases associated with GDF5

Curated MONDO disease pages that list GDF5 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.