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Gdf6
Gene Detail
 Symbol
Name
ID
Gdf6
growth differentiation factor 6
MGI:95689
Synonyms BMP13
Feature Type protein coding gene
Genetic Map
Chromosome 4
4.35 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr4:9844372-9862345 bp, + strand
From VEGA annotation of GRCm38

  17974 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:40883  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 zebrafish

Protein SuperFamily: bone morphogenetic protein
Gene Tree: Gdf6

Human
homologs
Human Homolog GDF6, growth differentiation factor 6
NCBI Gene ID 392255
neXtProt AC  NX_Q6KF10
Human Synonyms  BMP13, BMP-13, CDMP2, KFM, KFS, KFS1, KFSL, LCA17, MCOP4, MCOPCB6, SCDO4, SGM1
Human Chr (Location)  8q22.1; chr8:96142330-96160792 (-)  GRCh38
Disease Associations  (4) Diseases Associated with Human GDF6
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous null mice show multiple joint and skeletal patterning defects affecting the extremities, inner ear, and skull.
 
Interactions
Gdf6 interacts with 221 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (18 annotations)
Process activin receptor signaling pathway, apoptotic process, ...
Component extracellular region, extracellular space
Function cytokine activity, growth factor activity, ...
External Resources: FuncBase
Expression
Literature Summary: (11 records)
Data Summary: Results (111)    Tissues (35)    Images (32)
Theiler Stages: 17, 19, 21, 22, 23, 24, 25, 26
Assay TypeResults
RNA in situ 107
RT-PCR 4
cDNA source data(9)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(13) Genomic(1) cDNA(9) Primer pair(3)
Microarray probesets(1)
Other database
links
VEGA Gene ModelOTTMUSG00000004534 (Evidence)
Ensembl Gene ModelENSMUSG00000051279 (Evidence)
Entrez Gene242316 (Evidence)
UniGene302555
DFCITC1587838
DoTSDT.91335784
NIA Mouse Gene IndexU050612
Consensus CDS ProjectCCDS17960.1
International Mouse Knockout Project StatusGdf6
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000004534 VEGA Gene Model | MGI Sequence Detail 17974 C57BL/6J ±  kb
transcript OTTMUST00000010266 VEGA | MGI Sequence Detail 3532 Not Applicable 
polypeptide OTTMUSP00000004875 VEGA | MGI Sequence Detail 454 Not Applicable 

For the selected sequences
All sequences(18) RefSeq(2) UniProt(2)
Polymorphisms SNPs within 2kb(67 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002405 Inhibin, alpha subunit
InterPro IPR017948 Transforming growth factor beta, conserved site
InterPro IPR001839 Transforming growth factor-beta, C-terminal
InterPro IPR001111 Transforming growth factor-beta, N-terminal
InterPro IPR015615 Transforming growth factor-beta-related
Protein Ontology PR:000007924 growth/differentiation factor 6
References (Earliest) J:17582 Storm EE, et al., Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily [see comments]. Nature. 1994 Apr 14;368(6472):639-43
(Latest) J:193835 Asai-Coakwell M, et al., Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. Hum Mol Genet. 2013 Apr 1;22(7):1432-42
All references(39)
Other
accession IDs
MGD-MRK-10042

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/23/2014
MGI 5.19
The Jackson Laboratory