GDF3
Growth/differentiation factor 3
Also known as: GDF3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NR23
- Gene
- GDF3
- Ensembl
- ENSG00000184344
- Chromosome
- 12
- Canonical length
- 364 aa
- Protein class
- Disease related genes, Human disease related genes, 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 plays a role ocular and skeletal development. Mutations in this gene are associated with microphthalmia, coloboma, and skeletal abnormalities in human patients. [provided by RefSeq, Aug 2016]
Canonical amino-acid sequenceUniProt
364 residues, UniProt reviewed canonical sequence.
>Q9NR23|GDF3
1 MLRFLPDLAF SFLLILALGQ AVQFQEYVFL QFLGLDKAPS PQKFQPVPYI LKKIFQDREA
61 AATTGVSRDL CYVKELGVRG NVLRFLPDQG FFLYPKKISQ ASSCLQKLLY FNLSAIKERE
121 QLTLAQLGLD LGPNSYYNLG PELELALFLV QEPHVWGQTT PKPGKMFVLR SVPWPQGAVH
181 FNLLDVAKDW NDNPRKNFGL FLEILVKEDR DSGVNFQPED TCARLRCSLH ASLLVVTLNP
241 DQCHPSRKRR AAIPVPKLSC KNLCHRHQLF INFRDLGWHK WIIAPKGFMA NYCHGECPFS
301 LTISLNSSNY AFMQALMHAV DPEIPQAVCI PTKLSPISML YQDNNDNVIL RHYEDMVVDE
361 CGCGLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GDF3 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)
- 0.32
- Highest tissue expression
- 4.3 nTPM
Expression across tissuesHPA
Tissue
- kidney: 4.3 nTPM
- spleen: 0.9 nTPM
- testis: 0.4 nTPM
- adipose tissue: 0.3 nTPM
- adrenal gland: 0.3 nTPM
- fallopian tube: 0.3 nTPM
Single-cell type
- lymphatic endothelial cells: 12 nCPM
- granulosa cells: 4.9 nCPM
- vascular endothelial cells: 2 nCPM
- fallopian secretory cells: 0.5 nCPM
- hematopoietic stem cells: 0.5 nCPM
- monocytes: 0.5 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
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
- cerebellum: 0 nTPM
- cerebral cortex: 0 nTPM
- choroid plexus: 0 nTPM
- hippocampal formation: 0 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GDF3.
Disease | AllUniProt
Conditions GDF3 is implicated in, by any mechanism.
- Klippel-Feil syndrome 3, autosomal dominant (KFS3) MIM:613702
- Microphthalmia/Coloboma 6 (MCOPCB6) MIM:613703
- Microphthalmia, isolated, 7 (MCOP7) MIM:613704
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)
- 1.31
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.12
- DepMap mean gene effect
- 0
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- BMP signaling pathway
- endoderm development
- eye development
- formation of anatomical boundary
- in utero embryonic development
- mesoderm development
- negative regulation of BMP signaling pathway
- negative regulation of epidermal cell differentiation
- negative regulation of myoblast differentiation
- notochord development
- positive regulation of fat cell differentiation
- primitive streak formation
- regulation of cell fate commitment
- response to dietary excess
- skeletal system development
- somite rostral/caudal axis specification
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GDF3 as an antibody target. Whether an autoantibody or antibody against GDF3 could matter depends on whether native GDF3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GDF3 is annotated as secreted, so native GDF3 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 GDF3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...