Human Gene GDF6 (ENST00000620978.1) Description and Page Index
  Description: growth differentiation factor 6 (from HGNC GDF6)
RefSeq Summary (NM_001001557): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AJ537424.1, CN282698.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000287020.7/ ENSP00000287020.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000620978.1
Gencode Gene: ENSG00000156466.10
Transcript (Including UTRs)
   Position: hg38 chr8:96,144,525-96,160,719 Size: 16,195 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg38 chr8:96,144,655-96,160,692 Size: 16,038 Coding Exon Count: 4 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionRNA Structure
Protein StructureOther SpeciesmRNA DescriptionsPathwaysOther NamesGeneReviews
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr8:96,144,525-96,160,719)mRNA (may differ from genome)Protein (271 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
MGIPubMedStanford SOURCEUniProtKBWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: GDF6
Diseases sorted by gene-association score: microphthalmia, isolated 4* (1329), klippel-feil syndrome 1, autosomal dominant* (1231), leber congenital amaurosis 17* (1230), microphthalmia with coloboma 6, digenic* (707), isolated klippel-feil syndrome* (247), klippel-feil syndrome 1* (130), leber congenital amaurosis* (92), klippel-feil syndrome (60), isolated microphthalmia* (38), segmentation syndrome 1 (18), multiple synostoses syndrome (17), microphthalmia (16), colobomatous microphthalmia* (8), anophthalmia/microphthalmia (5), coloboma (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.57 RPKM in Cells - Transformed fibroblasts
Total median expression: 17.26 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -4.2027-0.156 Picture PostScript Text
3' UTR -39.60130-0.305 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001111 - TGF-b_N
IPR015615 - TGF-beta-rel

Pfam Domains:
PF00688 - TGF-beta propeptide

ModBase Predicted Comparative 3D Structure on A0PK22
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Descriptions from all associated GenBank mRNAs
  AJ537424 - Homo sapiens mRNA for GDF6 gene (growth/differentiation factor 6 precursor).
BC043222 - Homo sapiens growth differentiation factor 6, mRNA (cDNA clone IMAGE:5295441), partial cds.
JD276283 - Sequence 257307 from Patent EP1572962.
BC127948 - Homo sapiens growth differentiation factor 6, mRNA (cDNA clone MGC:158101 IMAGE:40132947), complete cds.
BC127947 - Homo sapiens growth differentiation factor 6, mRNA (cDNA clone MGC:158100 IMAGE:40132943), complete cds.
BC156445 - Synthetic construct Homo sapiens clone IMAGE:100063013, MGC:190664 growth differentiation factor 6 (GDF6) mRNA, encodes complete protein.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04060 - Cytokine-cytokine receptor interaction
hsa04350 - TGF-beta signaling pathway

-  Other Names for This Gene
  Alternate Gene Symbols: A0PK22, A0PK22_HUMAN, AJ537424, uc064otu.1
UCSC ID: uc064otu.1
RefSeq Accession: NM_001001557
Protein: A0PK22

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene GDF6:
lca-ov (Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.