Seroatlas · Human Serome Atlas

GDF6

Growth/differentiation factor 6

Also known as: BMP13, GDF6_HUMAN, KFS, KFS1, SGM1

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

Protein identityUniProt · HPA

UniProt accession
Q6KF10
Gene
GDF6
Ensembl
ENSG00000156466
Chromosome
8
Canonical length
455 aa
Protein class
Disease related genes, Human disease related genes, Predicted secreted proteins
Subcellular location
Nucleoplasm,Nuclear membrane,Vesicles
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 is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene are associated with Klippel-Feil syndrome, microphthalmia, and Leber congenital amaurosis. [provided by RefSeq, Sep 2016]

Canonical amino-acid sequenceUniProt

455 residues, UniProt reviewed canonical sequence.

>Q6KF10|GDF6
     1  MDTPRVLLSA VFLISFLWDL PGFQQASISS SSSSAELGST KGMRSRKEGK MQRAPRDSDA
    61  GREGQEPQPR PQDEPRAQQP RAQEPPGRGP RVVPHEYMLS IYRTYSIAEK LGINASFFQS
   121  SKSANTITSF VDRGLDDLSH TPLRRQKYLF DVSMLSDKEE LVGAELRLFR QAPSAPWGPP
   181  AGPLHVQLFP CLSPLLLDAR TLDPQGAPPA GWEVFDVWQG LRHQPWKQLC LELRAAWGEL
   241  DAGEAEARAR GPQQPPPPDL RSLGFGRRVR PPQERALLVV FTRSQRKNLF AEMREQLGSA
   301  EAAGPGAGAE GSWPPPSGAP DARPWLPSPG RRRRRTAFAS RHGKRHGKKS RLRCSKKPLH
   361  VNFKELGWDD WIIAPLEYEA YHCEGVCDFP LRSHLEPTNH AIIQTLMNSM DPGSTPPSCC
   421  VPTKLTPISI LYIDAGNNVV YKQYEDMVVE SCGCR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GDF6 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
10 nTPM

Expression across tissuesHPA

Tissue

  • placenta: 10 nTPM
  • heart muscle: 2.7 nTPM
  • gallbladder: 2.2 nTPM
  • seminal vesicle: 1.4 nTPM
  • adipose tissue: 1.2 nTPM
  • blood vessel: 1.2 nTPM

Single-cell type

  • oligodendrocyte progenitor cells: 11 nCPM
  • epididymal basal cells: 7.6 nCPM
  • fibro-adipogenic progenitors: 5.2 nCPM
  • mesothelial cells: 4.6 nCPM
  • oocytes: 4.6 nCPM
  • fibroblasts: 3.6 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

  • pons: 1.9 nTPM
  • hypothalamus: 1.7 nTPM
  • medulla oblongata: 1.7 nTPM
  • cerebral cortex: 1.4 nTPM
  • thalamus: 1.1 nTPM
  • cerebellum: 0.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GDF6.

Disease | AllUniProt

Conditions GDF6 is implicated in, by any mechanism.

  • Klippel-Feil syndrome 1, autosomal dominant (KFS1) MIM:118100
  • Microphthalmia, isolated, 4 (MCOP4) MIM:613094
  • Leber congenital amaurosis 17 (LCA17) MIM:615360
  • Multiple synostoses syndrome 4 (SYNS4) MIM:617898
  • Deafness, autosomal recessive, 118, with cochlear aplasia (DFNB118) MIM:619553

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 499 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Leber congenital amaurosis 17
  • Multiple synostoses syndrome 4
  • Klippel-Feil syndrome 1, autosomal dominant

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)
0.22
gnomAD pLI
0.99
gnomAD missense Z
0.93
DepMap mean gene effect
0.04
DepMap dependency class
none

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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GDF6 as an antibody target. Whether an autoantibody or antibody against GDF6 could matter depends on whether native GDF6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GDF6 is annotated as secreted, so native GDF6 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 GDF6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GDF6. 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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