GDF7
Growth/differentiation factor 7
Also known as: BMP12, GDF7_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q7Z4P5
- Gene
- GDF7
- Ensembl
- ENSG00000143869
- Chromosome
- 2
- Canonical length
- 450 aa
- Protein class
- Predicted secreted proteins
- Subcellular location
- Vesicles
- Secretome location
- Secreted in other tissues
- 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 may play a role in the differentiation of tendon cells and spinal cord interneurons. A mutation in this gene may be associated with increased risk for Barrett's esophagus and esophageal adenocarcinoma. [provided by RefSeq, Sep 2016]
Canonical amino-acid sequenceUniProt
450 residues, UniProt reviewed canonical sequence.
>Q7Z4P5|GDF7
1 MDLSAAAALC LWLLSACRPR DGLEAAAVLR AAGAGPVRSP GGGGGGGGGG RTLAQAAGAA
61 AVPAAAVPRA RAARRAAGSG FRNGSVVPHH FMMSLYRSLA GRAPAGAAAV SASGHGRADT
121 ITGFTDQATQ DESAAETGQS FLFDVSSLND ADEVVGAELR VLRRGSPESG PGSWTSPPLL
181 LLSTCPGAAR APRLLYSRAA EPLVGQRWEA FDVADAMRRH RREPRPPRAF CLLLRAVAGP
241 VPSPLALRRL GFGWPGGGGS AAEERAVLVV SSRTQRKESL FREIRAQARA LGAALASEPL
301 PDPGTGTASP RAVIGGRRRR RTALAGTRTA QGSGGGAGRG HGRRGRSRCS RKPLHVDFKE
361 LGWDDWIIAP LDYEAYHCEG LCDFPLRSHL EPTNHAIIQT LLNSMAPDAA PASCCVPARL
421 SPISILYIDA ANNVVYKQYE DMVVEACGCRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GDF7 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
- 21 nTPM
Expression across tissuesHPA
Tissue
- seminal vesicle: 21 nTPM
- blood vessel: 12 nTPM
- cervix: 9.7 nTPM
- endometrium: 6.7 nTPM
- vagina: 6.5 nTPM
- liver: 5 nTPM
Single-cell type
- endometrial stromal cells: 120 nCPM
- decidual stromal cells: 34 nCPM
- adrenal medulla cells: 32 nCPM
- prostatic club cells: 28 nCPM
- proximal tubule cells: 21 nCPM
- papillary tip epithelial cells: 11 nCPM
Immune cell
- memory B-cell: 0.6 nTPM
- naive B-cell: 0.6 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
Brain region
- cerebral cortex: 7.1 nTPM
- white matter: 2.9 nTPM
- basal ganglia: 2.5 nTPM
- thalamus: 2.4 nTPM
- medulla oblongata: 1.8 nTPM
- hippocampal formation: 1.7 nTPM
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)
- 0.64
- gnomAD pLI
- 0.63
- gnomAD missense Z
- 1.8
- DepMap mean gene effect
- 0.04
- 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
- activin receptor signaling pathway
- axon guidance
- BMP signaling pathway
- branching morphogenesis of an epithelial tube
- cell fate commitment
- epithelial cell differentiation
- forebrain morphogenesis
- gland morphogenesis
- midbrain development
- morphogenesis of an epithelial fold
- positive regulation of DNA-templated transcription
- positive regulation of gene expression
- positive regulation of neuron differentiation
- positive regulation of SMAD protein signal transduction
- positive regulation of tendon cell differentiation
- reproductive structure development
- spinal cord association neuron differentiation
- roof plate formation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GDF7 as an antibody target. Whether an autoantibody or antibody against GDF7 could matter depends on whether native GDF7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GDF7 is annotated as secreted, so native GDF7 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 GDF7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...