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 homo... See more...

Aliases for GDF6 Gene

Aliases for GDF6 Gene

  • Growth Differentiation Factor 6 2 3 5
  • BMP13 2 3 4
  • Growth/Differentiation Factor 16 3 4
  • Growth/Differentiation Factor 6 3 4
  • Bone Morphogenetic Protein 13 3 4
  • BMP-13 3 4
  • KFS1 2 3
  • KFS 2 3
  • Segmentation Syndrome 1 2
  • CDMP2 3
  • SYNS4 3
  • GDF16 4
  • GDF-6 4
  • KFSL 3
  • SGM1 3
  • GDF6 5
  • KFM 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 Klippel-Feil Syndrome 1, Autosomal Dominant and Leber Congenital Amaurosis 17. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Apoptotic Pathways in Synovial Fibroblasts. Gene Ontology (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 Summary 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 structures. Seems to positively regulate 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 , Rfam classification and piRNA Summary for GDF6 Gene

Genomics for GDF6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GDF6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J096158 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 282 +1.5 1535 6.1 IKZF1 POLR2A NFIC BHLHE40 ZNF341 NONO CTCF SPI1 CBX8 REST GDF6 HSALNG0067101 HSALNG0067100 C8orf37
GH08J096164 Enhancer 0.6 ENCODE 20.9 -3.7 -3702 0.2 ZNF654 MYC REST TRIM22 CTCF RAD21 RFX5 SMC3 ZNF2 ZNF664 HSALNG0067102-001 HSALNG0067102-002 GDF6 HSALNG0067101 UQCRB
GH08J096323 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 10 -165.4 -165394 6 ZNF654 CEBPA CTCF REST TRIM22 ZNF341 HOMEZ ZNF217 SIN3A ELF1 MTERF3 PTDSS1 GDF6 NONHSAG050820.2 piR-41195-094 RF00017-6633 SDC2
GH08J096103 Enhancer 0.9 Ensembl ENCODE 11.5 +56.4 56358 2.3 NFIC FEZF1 ZNF843 BCL11B MAFK PRDM6 ZNF189 INSM2 JUND CTCF MTERF3 GDF6 C8orf37 HSALNG0067096 HSALNG0067095
GH08J096132 Enhancer 0.6 ENCODE 17.1 +27.9 27858 0.2 ZNF654 CTCF RAD21 SMC3 TEAD3 TEAD4 BHLHE40 TEAD2 ZNF366 ZNF143 GDF6 ENSG00000270131 TUBBP7 C8orf37
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GDF6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GDF6

Top Transcription factor binding sites by QIAGEN in the GDF6 gene promoter:
  • COMP1
  • GATA-1
  • GATA-6
  • HSF2
  • ISGF-3
  • NF-1/L
  • Nkx3-1
  • USF-1
  • USF1
  • ZID

Genomic Locations for GDF6 Gene

Latest Assembly
chr8:96,142,333-96,160,806
(GRCh38/hg38)
Size:
18,474 bases
Orientation:
Minus strand

Previous Assembly
chr8:97,154,561-97,173,034
(GRCh37/hg19 by Entrez Gene)
Size:
18,474 bases
Orientation:
Minus strand

chr8:97,154,562-97,173,020
(GRCh37/hg19 by Ensembl)
Size:
18,459 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

Antibodies for research

  • Abcam antibodies for GDF6
  • Boster Bio Antibodies for GDF6

No data available for DME Specific Peptides for GDF6 Gene

Domains & Families for GDF6 Gene

Gene Families for GDF6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for GDF6 Gene

InterPro:
Blocks:
  • Transforming growth factor beta (TGFb)
  • Growth factor cystine knot superfamily signature

Suggested Antigen Peptide Sequences for GDF6 Gene

GenScript: Design optimal peptide antigens:
  • Growth/differentiation factor 16 (GDF6_HUMAN)

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

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 structures. Seems to positively regulate 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

Phenotypes From GWAS Catalog for GDF6 Gene

Gene Ontology (GO) - Molecular Function for GDF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IBA 21873635
GO:0008083 growth factor 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 Models for research

  • Taconic Biosciences Mouse Models for GDF6

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GDF6

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 4
plasma membrane 2
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Nuclear membrane (2)
  • Nucleoplasm (2)
See all subcellular structures

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 21873635
genes like me logo Genes that share ontologies with GDF6: view

Pathways & Interactions for GDF6 Gene

PathCards logo

SuperPathways for GDF6 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
2 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
3 ERK Signaling
.61
.61
.58
.51
.49
4 Nanog in Mammalian ESC Pluripotency
.61
.61
.59
.48
5 CREB Pathway
.68
.68
.63
.50
genes like me logo Genes that share pathways with GDF6: view

Pathways by source for GDF6 Gene

54 Qiagen pathways for GDF6 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR

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 :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GDF6

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

No ASD Table

Relevant External Links for GDF6 Gene

GeneLoc Exon Structure for
GDF6

Expression for GDF6 Gene

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



Protein tissue co-expression partners for GDF6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GDF6

SOURCE GeneReport for Unigene cluster for GDF6 Gene:

Hs.492277

Evidence on tissue expression from TISSUES for GDF6 Gene

  • Nervous system(4.4)
  • Kidney(2)

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
Regions:
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 for research

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 29 30
  • 99.38 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GDF6 29 30
  • 90.11 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gdf6 29 16 30
  • 85.66 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gdf6 29
  • 85.19 (n)
Oppossum
(Monodelphis domestica)
Mammalia GDF6 30
  • 77 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia GDF6 30
  • 65 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GDF6 30
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gdf6 29
  • 66.07 (n)
Str.18183 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.577 29
Zebrafish
(Danio rerio)
Actinopterygii gdf6a 29 30
  • 62.84 (n)
OneToMany
gdf6b 29 30
  • 52 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta dpp 30
  • 18 (a)
OneToMany
Species where no ortholog for GDF6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for GDF6: view image
Alliance of Genome Resources:
Additional Orthologs for GDF6

Paralogs for GDF6 Gene

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

  • GDF6_HUMAN
  • A0PK22_HUMAN
  • A0PK23_HUMAN
  • M1L0V3_HUMAN
  • M1L5L6_HUMAN
genes like me logo Genes that share paralogs with GDF6: view

Variants for GDF6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GDF6 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
1001816 Uncertain Significance: Klippel-Feil syndrome 1, autosomal dominant; Microphthalmia, isolated 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 96,144,621(-) T/C
NM_001001557.4(GDF6):c.1310A>G (p.Asn437Ser)
MISSENSE
1002016 Uncertain Significance: Klippel-Feil syndrome 1, autosomal dominant; Microphthalmia, isolated 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 96,145,395(-) G/T
NM_001001557.4(GDF6):c.536C>A (p.Pro179Gln)
MISSENSE
1002101 Uncertain Significance: Klippel-Feil syndrome 1, autosomal dominant; Microphthalmia, isolated 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 96,145,035(-) G/A
NM_001001557.4(GDF6):c.896C>T (p.Ser299Leu)
MISSENSE
1007576 Uncertain Significance: Klippel-Feil syndrome 1, autosomal dominant; Microphthalmia, isolated 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 96,145,320(-) G/A
NM_001001557.4(GDF6):c.611C>T (p.Pro204Leu)
MISSENSE
1008100 Uncertain Significance: Klippel-Feil syndrome 1, autosomal dominant; Microphthalmia, isolated 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 96,160,316(-) G/A
NM_001001557.4(GDF6):c.377C>T (p.Thr126Met)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GDF6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for GDF6 Gene

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

SNP Genotyping and Copy Number Assays for research

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

(40) MalaCards diseases for GDF6 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 variants 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}.
  • 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 variants 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 variants affecting the gene represented in this entry.
  • Multiple synostoses syndrome 4 (SYNS4) [MIM:617898]: A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism. SYNS4 inheritance is autosomal dominant. {ECO:0000269 PubMed:26643732, ECO:0000269 PubMed:29130651}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for GDF6

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 OJ (Human molecular genetics 2009) 3 4 22 72
  2. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. (PMID: 18425797) Tassabehji M … Clarke RA (Human mutation 2008) 2 3 4 72
  3. 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 (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2016) 3 4 72
  4. Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. (PMID: 23307924) Asai-Coakwell M … Lehmann OJ (Human molecular genetics 2013) 3 4 72
  5. Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate. (PMID: 18716610) Chiquet BT … Hecht JT (European journal of human genetics : EJHG 2009) 3 22 40

Products for GDF6 Gene

Sources for GDF6 Gene