Seroatlas · Human Serome Atlas

GDF5

Growth/differentiation factor 5

Also known as: BMP14, CDMP1, GDF5_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P43026
Gene
GDF5
Ensembl
ENSG00000125965
Chromosome
20
Canonical length
501 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted secreted proteins
Secretome location
Secreted to blood
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016]

Canonical amino-acid sequenceUniProt

501 residues, UniProt reviewed canonical sequence.

>P43026|GDF5
     1  MRLPKLLTFL LWYLAWLDLE FICTVLGAPD LGQRPQGTRP GLAKAEAKER PPLARNVFRP
    61  GGHSYGGGAT NANARAKGGT GQTGGLTQPK KDEPKKLPPR PGGPEPKPGH PPQTRQATAR
   121  TVTPKGQLPG GKAPPKAGSV PSSFLLKKAR EPGPPREPKE PFRPPPITPH EYMLSLYRTL
   181  SDADRKGGNS SVKLEAGLAN TITSFIDKGQ DDRGPVVRKQ RYVFDISALE KDGLLGAELR
   241  ILRKKPSDTA KPAAPGGGRA AQLKLSSCPS GRQPAALLDV RSVPGLDGSG WEVFDIWKLF
   301  RNFKNSAQLC LELEAWERGR AVDLRGLGFD RAARQVHEKA LFLVFGRTKK RDLFFNEIKA
   361  RSGQDDKTVY EYLFSQRRKR RAPLATRQGK RPSKNLKARC SRKALHVNFK DMGWDDWIIA
   421  PLEYEAFHCE GLCEFPLRSH LEPTNHAVIQ TLMNSMDPES TPPTCCVPTR LSPISILFID
   481  SANNVVYKQY EDMVVESCGC R

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GDF5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.47
Highest tissue expression
9.3 nTPM

Expression across tissuesHPA

Tissue

  • salivary gland: 9.3 nTPM
  • lung: 2.2 nTPM
  • pituitary gland: 1.7 nTPM
  • colon: 1.5 nTPM
  • seminal vesicle: 1.1 nTPM
  • adipose tissue: 0.9 nTPM

Single-cell type

  • salivary acinar cells: 11 nCPM
  • pituicytes/fscs: 10 nCPM
  • submucosal glandular cells: 3.4 nCPM
  • breast lactating cells: 3 nCPM
  • lacrimal acinar cells: 2.7 nCPM
  • breast myoepithelial cells: 2.6 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • basal ganglia: 0.9 nTPM
  • choroid plexus: 0.9 nTPM
  • thalamus: 0.9 nTPM
  • cerebral cortex: 0.5 nTPM
  • hypothalamus: 0.5 nTPM
  • medulla oblongata: 0.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GDF5.

Disease | AllUniProt

Conditions GDF5 is implicated in, by any mechanism.

Disease | GeneticClinVar

53 pathogenic / likely-pathogenic of 498 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Brachydactyly type C
  • Grebe syndrome
  • Symphalangism, proximal, 1B
  • Type A2 brachydactyly
  • Multiple synostoses syndrome 2

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.47
gnomAD pLI
0.67
gnomAD missense Z
0.89
DepMap mean gene effect
-0.13
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GDF5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GDF5 as an antibody target. Whether an autoantibody or antibody against GDF5 could matter depends on whether native GDF5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GDF5 is annotated at the cell surface, where native GDF5 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label GDF5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GDF5. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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