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Aliases for GDF6 Gene

Aliases for GDF6 Gene

  • Growth Differentiation Factor 6 2 3 5
  • Growth/Differentiation Factor 16 3 4
  • Bone Morphogenetic Protein 13 3 4
  • BMP-13 3 4
  • BMP13 3 4
  • Growth/Differentiation Factor 6 3
  • Segmentation Syndrome 1 2
  • CDMP2 3
  • GDF-6 4
  • GDF16 4
  • KFS1 3
  • KFSL 3
  • SGM1 3
  • KFM 3
  • KFS 3

External Ids for GDF6 Gene

Previous HGNC Symbols for GDF6 Gene

  • SGM1

Previous GeneCards Identifiers for GDF6 Gene

  • GC00U990463
  • GC08M097223
  • GC08M092360

Summaries for GDF6 Gene

Entrez Gene Summary for GDF6 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]

GeneCards Summary for GDF6 Gene

GDF6 (Growth Differentiation Factor 6) is a Protein Coding gene. Diseases associated with GDF6 include Microphthalmia, Isolated 4 and Klippel-Feil Syndrome 1, Autosomal Dominant. Among its related pathways are GPCR Pathway and Phospholipase-C Pathway. GO annotations related to this gene include protein homodimerization activity and growth factor activity. An important paralog of this gene is GDF7.

UniProtKB/Swiss-Prot for GDF6 Gene

  • Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Establishes dorsal-ventral positional information in the retina and controls the formation of the retinotectal map (PubMed:23307924). Required for normal formation of bones and joints in the limbs, skull, digits and axial skeleton. Plays a key role in establishing boundaries between skeletal elements during development. Regulation of GDF6 expression seems to be a mechanism for evolving species-specific changes in skeletal strucutres. Seems to positively regulates differentiation of chondrogenic tissue through the growth factor receptors subunits BMPR1A, BMPR1B, BMPR2 and ACVR2A, leading to the activation of SMAD1-SMAD5-SMAD8 complex. The regulation of chondrogenic differentiation is inhibited by NOG (PubMed:26643732). Also involved in the induction of adipogenesis from mesenchymal stem cells. This mechanism acts through the growth factor receptors subunits BMPR1A, BMPR2 and ACVR2A and the activation of SMAD1-SMAD5-SMAD8 complex and MAPK14/p38 (By similarity).

Gene Wiki entry for GDF6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GDF6 Gene

Genomics for GDF6 Gene

Regulatory Elements for GDF6 Gene

Enhancers for GDF6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G096160 1.1 FANTOM5 ENCODE 32.1 -0.6 -606 1.9 CTCF SUZ12 MAX RBBP5 HIC1 GLIS2 PRDM10 ZBTB20 EZH2 ZNF202 GDF6 GC08P096183
GH08G096132 1 Ensembl ENCODE 17 +27.6 27618 0.9 CTCF MXI1 TEAD4 MAX RAD21 TEAD3 ZNF316 ZNF366 SMC3 MAFK GDF6 TUBBP7 ENSG00000270131
GH08G096164 0.7 ENCODE 21 -3.7 -3716 0.2 CTCF ZNF654 RB1 TRIM22 REST ZNF2 RAD21 RFX5 ZNF664 GATA3 GDF6 GC08P096183
GH08G096161 0.6 ENCODE 21.3 +0.6 635 0.3 RNF2 SUZ12 CBX2 MXD4 CBX8 GLIS2 ZNF341 ZBTB26 ZBTB20 EZH2 GDF6 ENSG00000270131
GH08G095807 1 ENCODE dbSUPER 9.9 +352.4 352383 1.8 SMARCE1 CTCF ESRRA SMAD5 MAFG DPF2 ARID1B RUNX1 JUND ZNF316 GDF6 GC08M095906 GC08P095632
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GDF6 on UCSC Golden Path with GeneCards custom track

Promoters for GDF6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000227362 -108 601 CTCF SUZ12 RBBP5 GLIS2 PRDM10 ZBTB20 EZH2 RFX1 L3MBTL2 CBX2

Genomic Location for GDF6 Gene

Chromosome:
8
Start:
96,142,330 bp from pter
End:
96,160,792 bp from pter
Size:
18,463 bases
Orientation:
Minus strand

Genomic View for GDF6 Gene

Genes around GDF6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GDF6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GDF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GDF6 Gene

Proteins for GDF6 Gene

  • Protein details for GDF6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6KF10-GDF6_HUMAN
    Recommended name:
    Growth/differentiation factor 6
    Protein Accession:
    Q6KF10
    Secondary Accessions:
    • Q6PI58

    Protein attributes for GDF6 Gene

    Size:
    455 amino acids
    Molecular mass:
    50662 Da
    Quaternary structure:
    • Homodimer; disulfide-linked.

neXtProt entry for GDF6 Gene

Post-translational modifications for GDF6 Gene

  • Glycosylation at Asn114
  • Modification sites at PhosphoSitePlus

Other Protein References for GDF6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GDF6 Gene

Domains & Families for GDF6 Gene

Suggested Antigen Peptide Sequences for GDF6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6KF10

UniProtKB/Swiss-Prot:

GDF6_HUMAN :
  • Belongs to the TGF-beta family.
Family:
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with GDF6: view

No data available for Gene Families for GDF6 Gene

Function for GDF6 Gene

Molecular function for GDF6 Gene

UniProtKB/Swiss-Prot Function:
Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Establishes dorsal-ventral positional information in the retina and controls the formation of the retinotectal map (PubMed:23307924). Required for normal formation of bones and joints in the limbs, skull, digits and axial skeleton. Plays a key role in establishing boundaries between skeletal elements during development. Regulation of GDF6 expression seems to be a mechanism for evolving species-specific changes in skeletal strucutres. Seems to positively regulates differentiation of chondrogenic tissue through the growth factor receptors subunits BMPR1A, BMPR1B, BMPR2 and ACVR2A, leading to the activation of SMAD1-SMAD5-SMAD8 complex. The regulation of chondrogenic differentiation is inhibited by NOG (PubMed:26643732). Also involved in the induction of adipogenesis from mesenchymal stem cells. This mechanism acts through the growth factor receptors subunits BMPR1A, BMPR2 and ACVR2A and the activation of SMAD1-SMAD5-SMAD8 complex and MAPK14/p38 (By similarity).

LifeMap Function Summary for GDF6 Gene

Gene Ontology (GO) - Molecular Function for GDF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IBA --
GO:0005160 transforming growth factor beta receptor binding IBA --
GO:0008083 growth factor activity IEA --
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with GDF6: view
genes like me logo Genes that share phenotypes with GDF6: view

Human Phenotype Ontology for GDF6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GDF6 Gene

MGI Knock Outs for GDF6:

Animal Model Products

  • Taconic Biosciences Mouse Models for GDF6

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GDF6 Gene

Localization for GDF6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GDF6 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GDF6 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GDF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA --
genes like me logo Genes that share ontologies with GDF6: view

Pathways & Interactions for GDF6 Gene

genes like me logo Genes that share pathways with GDF6: view

SIGNOR curated interactions for GDF6 Gene

Activates:

Gene Ontology (GO) - Biological Process for GDF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process ISS --
GO:0007275 multicellular organism development IEA --
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation IDA 16049014
GO:0030509 BMP signaling pathway IDA 16049014
GO:0032332 positive regulation of chondrocyte differentiation IMP 26643732
genes like me logo Genes that share ontologies with GDF6: view

Drugs & Compounds for GDF6 Gene

No Compound Related Data Available

Transcripts for GDF6 Gene

mRNA/cDNA for GDF6 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GDF6 Gene

Growth differentiation factor 6:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GDF6 Gene

No ASD Table

Relevant External Links for GDF6 Gene

GeneLoc Exon Structure for
GDF6
ECgene alternative splicing isoforms for
GDF6

Expression for GDF6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GDF6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GDF6 Gene

This gene is overexpressed in Heart - Atrial Appendage (x5.0).

Protein differential expression in normal tissues from HIPED for GDF6 Gene

This gene is overexpressed in Liver (63.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GDF6 Gene



Protein tissue co-expression partners for GDF6 Gene

NURSA nuclear receptor signaling pathways regulating expression of GDF6 Gene:

GDF6

SOURCE GeneReport for Unigene cluster for GDF6 Gene:

Hs.492277

Evidence on tissue expression from TISSUES for GDF6 Gene

  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GDF6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • scalp
  • skull
Thorax:
  • aorta
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
  • testicle
  • ureter
  • uterus
Limb:
  • arm
  • humerus
  • shoulder
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with GDF6: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for GDF6 Gene

Orthologs for GDF6 Gene

This gene was present in the common ancestor of animals.

Orthologs for GDF6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GDF6 34 35
  • 99.38 (n)
cow
(Bos Taurus)
Mammalia GDF6 34 35
  • 90.11 (n)
mouse
(Mus musculus)
Mammalia Gdf6 34 16 35
  • 85.66 (n)
rat
(Rattus norvegicus)
Mammalia Gdf6 34
  • 85.19 (n)
oppossum
(Monodelphis domestica)
Mammalia GDF6 35
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GDF6 35
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GDF6 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gdf6 34
  • 66.07 (n)
Str.18183 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.577 34
zebrafish
(Danio rerio)
Actinopterygii gdf6a 34 35
  • 62.84 (n)
gdf6b 34 35
  • 52 (a)
fruit fly
(Drosophila melanogaster)
Insecta dpp 35
  • 18 (a)
OneToMany
Species where no ortholog for GDF6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GDF6 Gene

ENSEMBL:
Gene Tree for GDF6 (if available)
TreeFam:
Gene Tree for GDF6 (if available)

Paralogs for GDF6 Gene

Paralogs for GDF6 Gene

(5) SIMAP similar genes for GDF6 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with GDF6: view

Variants for GDF6 Gene

Sequence variations from dbSNP and Humsavar for GDF6 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs121909352 Pathogenic, Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100], Leber congenital amaurosis 17 (LCA17) [MIM:615360], Microphthalmia, isolated, 4 (MCOP4) [MIM:613094] 96,145,185(-) GCGCG(A/C)GCGGG reference, missense
rs121909353 Pathogenic, Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100] 96,144,660(-) CACCA(A/G)ATTGA reference, missense
rs121909354 Pathogenic, Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100] 96,160,568(-) CAAGG(C/G/T)CATGC reference, missense
rs121909355 Pathogenic, Microphthalmia, isolated, 4 (MCOP4) [MIM:613094] 96,145,173(-) ACCCC(A/T)GCAAC reference, missense
rs121909356 Pathogenic, Microphthalmia, isolated, 4 (MCOP4) [MIM:613094] 96,144,951(-) GCTGC(A/C)CTCGC reference, missense

Variation tolerance for GDF6 Gene

Residual Variation Intolerance Score: 45.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.51; 29.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GDF6 Gene

Human Gene Mutation Database (HGMD)
GDF6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GDF6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GDF6 Gene

Disorders for GDF6 Gene

MalaCards: The human disease database

(14) MalaCards diseases for GDF6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microphthalmia, isolated 4
  • isolated microphthalmia 4
klippel-feil syndrome 1, autosomal dominant
  • klippel-feil sequence
leber congenital amaurosis 17
  • lca17
microphthalmia with coloboma 6, digenic
  • microphthalmia with coloboma 6
isolated klippel-feil syndrome
  • klippel-feil sequence
- elite association - COSMIC cancer census association via MalaCards
Search GDF6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GDF6_HUMAN
  • Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100]: A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. Deafness is a feature in some cases and may be of sensorineural, conductive, or mixed type. {ECO:0000269 PubMed:18425797, ECO:0000269 PubMed:19129173}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Leber congenital amaurosis 17 (LCA17) [MIM:615360]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or almost absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269 PubMed:23307924}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Microphthalmia, isolated, 4 (MCOP4) [MIM:613094]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. {ECO:0000269 PubMed:19129173, ECO:0000269 PubMed:24033328}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving GDF6 has been found in a patient with Klippel-Feil syndrome (KFS). Paracentric inv(8)(q22;2q23.3). {ECO:0000269 PubMed:18425797}.
  • Note=Defects in POP1 may be the cause of multiple synostoses syndrome (SYNS). SYNS is a bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal joints. Additional features can include progressive conductive deafness. {ECO:0000269 PubMed:26643732}.

Relevant External Links for GDF6

Genetic Association Database (GAD)
GDF6
Human Genome Epidemiology (HuGE) Navigator
GDF6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GDF6
genes like me logo Genes that share disorders with GDF6: view

No data available for Genatlas for GDF6 Gene

Publications for GDF6 Gene

  1. Incomplete penetrance and phenotypic variability characterize Gdf6- attributable oculo-skeletal phenotypes. (PMID: 19129173) Asai-Coakwell M. … Lehmann O.J. (Hum. Mol. Genet. 2009) 3 4 22 64
  2. Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate. (PMID: 18716610) Chiquet B.T. … Hecht J.T. (Eur. J. Hum. Genet. 2009) 3 22 46 64
  3. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. (PMID: 18425797) Tassabehji M. … Clarke R.A. (Hum. Mutat. 2008) 2 3 4 64
  4. A New Subtype of Multiple-Synostoses Syndrome is Caused by a Mutation in GDF6 that Decreases its Sensitivity to Noggin and Enhances its Potency as a BMP Signal. (PMID: 26643732) Wang J. … Shen Y. (J. Bone Miner. Res. 2015) 3 4 64
  5. Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. (PMID: 23307924) Asai-Coakwell M. … Lehmann O.J. (Hum. Mol. Genet. 2013) 3 4 64

Products for GDF6 Gene

Sources for GDF6 Gene

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