Seroatlas · Human Serome Atlas

GDF2

Growth/differentiation factor 2

Also known as: BMP-9, BMP9, GDF2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9UK05
Gene
GDF2
Ensembl
ENSG00000263761
Chromosome
10
Canonical length
429 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 cartilage and bone development, angiogenesis and differentiation of cholinergic central nervous system neurons. Mutations in this gene are associated with hereditary hemorrhagic telangiectasia. [provided by RefSeq, Jul 2016]

Canonical amino-acid sequenceUniProt

429 residues, UniProt reviewed canonical sequence.

>Q9UK05|GDF2
     1  MCPGALWVAL PLLSLLAGSL QGKPLQSWGR GSAGGNAHSP LGVPGGGLPE HTFNLKMFLE
    61  NVKVDFLRSL NLSGVPSQDK TRVEPPQYMI DLYNRYTSDK STTPASNIVR SFSMEDAISI
   121  TATEDFPFQK HILLFNISIP RHEQITRAEL RLYVSCQNHV DPSHDLKGSV VIYDVLDGTD
   181  AWDSATETKT FLVSQDIQDE GWETLEVSSA VKRWVRSDST KSKNKLEVTV ESHRKGCDTL
   241  DISVPPGSRN LPFFVVFSND HSSGTKETRL ELREMISHEQ ESVLKKLSKD GSTEAGESSH
   301  EEDTDGHVAA GSTLARRKRS AGAGSHCQKT SLRVNFEDIG WDSWIIAPKE YEAYECKGGC
   361  FFPLADDVTP TKHAIVQTLV HLKFPTKVGK ACCVPTKLSP ISVLYKDDMG VPTLKYHYEG
   421  MSVAECGCR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GDF2 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)
0.4
Highest tissue expression
17 nTPM

Expression across tissuesHPA

Tissue

  • liver: 17 nTPM
  • heart muscle: 0.1 nTPM
  • placenta: 0.1 nTPM
  • adipose tissue: 0 nTPM
  • adrenal gland: 0 nTPM
  • amygdala: 0 nTPM

Single-cell type

  • hepatic stellate cells: 19 nCPM
  • cholangiocytes: 2 nCPM
  • late spermatids: 0.9 nCPM
  • vascular endothelial cells: 0.2 nCPM
  • early spermatids: 0.1 nCPM
  • pericytes: 0.1 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

  • hippocampal formation: 1.1 nTPM
  • amygdala: 0.5 nTPM
  • cerebral cortex: 0.5 nTPM
  • pons: 0.5 nTPM
  • hypothalamus: 0.3 nTPM
  • medulla oblongata: 0.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GDF2.

Disease | AllUniProt

Conditions GDF2 is implicated in, by any mechanism.

  • Telangiectasia, hereditary hemorrhagic, 5 (HHT5) MIM:615506

Disease | GeneticClinVar

14 pathogenic / likely-pathogenic of 342 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)
0.98
gnomAD pLI
0
gnomAD missense Z
0.46
DepMap mean gene effect
-0.02
DepMap dependency class
none

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 GDF2 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 GDF2 as an antibody target. Whether an autoantibody or antibody against GDF2 could matter depends on whether native GDF2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GDF2 is annotated as secreted, so native GDF2 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 GDF2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GDF2. 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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