Seroatlas · Human Serome Atlas

GDF9

Growth/differentiation factor 9

Also known as: GDF9_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
O60383
Gene
GDF9
Ensembl
ENSG00000164404
Chromosome
5
Canonical length
454 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins
Subcellular location
Golgi apparatus,Cytosol
Secretome location
Secreted in female reproductive system
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 ovarian function. Reduced expression of this gene may be associated with polycystic ovary syndrome and mutations in this gene may be more common in mothers of dizygotic twins. [provided by RefSeq, Jul 2016]

Canonical amino-acid sequenceUniProt

454 residues, UniProt reviewed canonical sequence.

>O60383|GDF9
     1  MARPNKFLLW FCCFAWLCFP ISLGSQASGG EAQIAASAEL ESGAMPWSLL QHIDERDRAG
    61  LLPALFKVLS VGRGGSPRLQ PDSRALHYMK KLYKTYATKE GIPKSNRSHL YNTVRLFTPC
   121  TRHKQAPGDQ VTGILPSVEL LFNLDRITTV EHLLKSVLLY NINNSVSFSS AVKCVCNLMI
   181  KEPKSSSRTL GRAPYSFTFN SQFEFGKKHK WIQIDVTSLL QPLVASNKRS IHMSINFTCM
   241  KDQLEHPSAQ NGLFNMTLVS PSLILYLNDT SAQAYHSWYS LHYKRRPSQG PDQERSLSAY
   301  PVGEEAAEDG RSSHHRHRRG QETVSSELKK PLGPASFNLS EYFRQFLLPQ NECELHDFRL
   361  SFSQLKWDNW IVAPHRYNPR YCKGDCPRAV GHRYGSPVHT MVQNIIYEKL DSSVPRPSCV
   421  PAKYSPLSVL TIEPDGSIAY KEYEDMIATK CTCR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GDF9 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
Secreted
Secreted
Yes
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.44
Highest tissue expression
6.6 nTPM

Expression across tissuesHPA

Tissue

  • testis: 6.6 nTPM
  • epididymis: 3.4 nTPM
  • retina: 1.2 nTPM
  • basal ganglia: 1.1 nTPM
  • ovary: 1.1 nTPM
  • pituitary gland: 1.1 nTPM

Single-cell type

  • oocytes: 184 nCPM
  • cardiomyocytes: 82 nCPM
  • late primary spermatocytes: 28 nCPM
  • early primary spermatocytes: 17 nCPM
  • epicardial cells: 16 nCPM
  • early spermatids: 13 nCPM

Immune cell

  • myeloid DC: 0.4 nTPM
  • plasmacytoid DC: 0.3 nTPM
  • total PBMC: 0.3 nTPM
  • classical monocyte: 0.2 nTPM
  • memory B-cell: 0.2 nTPM
  • memory CD8 T-cell: 0.2 nTPM

Brain region

  • midbrain: 1.5 nTPM
  • spinal cord: 1.4 nTPM
  • white matter: 1.4 nTPM
  • basal ganglia: 1.3 nTPM
  • hypothalamus: 1.3 nTPM
  • medulla oblongata: 1.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GDF9.

Disease | AllUniProt

Conditions GDF9 is implicated in, by any mechanism.

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 104 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.19
gnomAD pLI
0
gnomAD missense Z
-0.57
DepMap mean gene effect
-0.06
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 GDF9 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 GDF9 as an antibody target. Whether an autoantibody or antibody against GDF9 could matter depends on whether native GDF9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GDF9 is annotated as secreted, so native GDF9 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label GDF9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GDF9. 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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