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Aliases for GDF6 Gene

Aliases for GDF6 Gene

  • Growth Differentiation Factor 6 2 3
  • Growth/Differentiation Factor 16 3 4
  • Bone Morphogenetic Protein 13 3 4
  • MCOPCB6 3 6
  • BMP-13 3 4
  • LCA17 3 6
  • MCOP4 3 6
  • BMP13 3 4
  • GDF-6 3 4
  • KFS1 3 6
  • Growth/Differentiation Factor 6 3
  • Klippel-Feil Malformation 3
  • Segmentation Syndrome 1 2
  • Klip-Feil Malformation 3
  • Klippel-Feil Syndrome 3
  • SCDO4 3
  • CDMP2 3
  • GDF16 4
  • 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 member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily of secreted signaling molecules. It is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene result in colobomata, which are congenital abnormalities in ocular development, and in Klippel-Feil syndrome (KFS), which is a congenital disorder of spinal segmentation. [provided by RefSeq, Jul 2008]

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 microphthalmia, isolated 4. Among its related pathways are NF-KappaB Family Pathway and NF-KappaB Family Pathway. GO annotations related to this gene include protein homodimerization activity and growth factor activity. An important paralog of this gene is BMP2.

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. Required for normal formation of bones and joints in the limbs, skull, and axial skeleton. Plays a key role in establishing boundaries between skeletal elements during development. May signal through the growth factor receptors subunits BMPR1A, BMPR1B, BMPR2 and ACVR2A.

Gene Wiki entry for GDF6 Gene

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

Genomics for GDF6 Gene

Regulatory Elements for GDF6 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GDF6 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for GDF6 Gene at MOPED

Post-translational modifications for GDF6 Gene

  • Glycosylation at Asn114
  • Modification sites at PhosphoSitePlus

Other Protein References for GDF6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GDF6 Gene

Domains 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 :
  • Q6KF10
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. Required for normal formation of bones and joints in the limbs, skull, and axial skeleton. Plays a key role in establishing boundaries between skeletal elements during development. May signal through the growth factor receptors subunits BMPR1A, BMPR1B, BMPR2 and ACVR2A.

LifeMap Function Summary for GDF6 Gene

It affects the following cells:

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

Animal Models for GDF6 Gene

MGI Knock Outs for GDF6:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GDF6

In Situ Assay Products

Flow Cytometry Products

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

Localization for GDF6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GDF6 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GDF6 Gene COMPARTMENTS Subcellular localization image for GDF6 gene
Compartment Confidence
extracellular 4
plasma membrane 2
cytoskeleton 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GDF6 Gene

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

Pathways for GDF6 Gene

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

Pathways by source for GDF6 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for GDF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process ISS --
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation IDA 16049014
GO:0030509 BMP signaling pathway IDA 16049014
GO:0032924 activin receptor signaling pathway IDA 16049014
GO:0040007 growth IEA --
genes like me logo Genes that share ontologies with GDF6: view

Transcripts for GDF6 Gene

mRNA/cDNA for GDF6 Gene

(4) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GDF6

Primer Products

Flow Cytometry 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 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 (5.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GDF6 Gene

SOURCE GeneReport for Unigene cluster for GDF6 Gene Hs.492277

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

In Situ Assay 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 35
  • 99.38 (n)
  • 99.31 (a)
GDF6 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GDF6 35
  • 90.11 (n)
  • 88.35 (a)
GDF6 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GDF6 36
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gdf6 35
  • 85.66 (n)
  • 87.36 (a)
Gdf6 16
Gdf6 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GDF6 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gdf6 35
  • 85.19 (n)
  • 86 (a)
lizard
(Anolis carolinensis)
Reptilia GDF6 36
  • 61 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.577 35
tropical clawed frog
(Silurana tropicalis)
Amphibia gdf6 35
  • 66.07 (n)
  • 68.7 (a)
Str.18183 35
zebrafish
(Danio rerio)
Actinopterygii gdf6a 35
  • 62.84 (n)
  • 63.59 (a)
gdf6a 36
  • 61 (a)
OneToMany
gdf6b 35
gdf6b 36
  • 52 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta dpp 36
  • 18 (a)
OneToMany
Species with no ortholog for GDF6:
  • 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

Selected 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 MAF
rs1574018 -- 96,161,308(-) AGGGA(A/G)GGTAC upstream-variant-2KB
rs2245091 - 96,161,256(+) CAGCT(C/T)GGAGC upstream-variant-2KB
rs2255182 -- 96,152,676(+) TTCTC(A/G)TCACA intron-variant
rs2440199 -- 96,144,183(+) ATCTC(C/T)CCTCC utr-variant-3-prime
rs2440200 -- 96,146,705(+) ACACA(C/G)ACAGA intron-variant

Relevant External Links for GDF6 Gene

HapMap Linkage Disequilibrium report
GDF6
Human Gene Mutation Database (HGMD)
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

(4) OMIM Diseases for GDF6 Gene (601147)

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.
  • Note=A chromosomal aberration involving GDF6 has been found in a patient with Klippel-Feil syndrome (KFS). Paracentric inv(8)(q22;2q23.3).
  • 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}. 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.

(4) University of Copenhagen DISEASES for GDF6 Gene

Relevant External Links for GDF6

Genetic Association Database (GAD)
GDF6
Human Genome Epidemiology (HuGE) Navigator
GDF6
genes like me logo Genes that share disorders with GDF6: view

Publications for GDF6 Gene

  1. 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 23 48
  2. 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 23
  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
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Isolation of zebrafish gdf7 and comparative genetic mapping of genes belonging to the growth/differentiation factor 5, 6, 7 subgroup of the TGF-beta superfamily. (PMID: 10022976) Davidson A.J. … Crosier P.S. (Genome Res. 1999) 2 3

Products for GDF6 Gene

Sources for GDF6 Gene

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