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Gdf6 Gene Detail
Summary
  • Symbol
    Gdf6
  • Name
    growth differentiation factor 6
  • Synonyms
    BMP13
  • Feature Type
    protein coding gene
  • IDs
    MGI:95689
    NCBI Gene: 242316
  • Gene Overview
    MyGene.info: GDF6
Location & Maps
more
Homology
more
  • Human Ortholog
    GDF6, growth differentiation factor 6
  • Vertebrate Orthologs
    8
  • Human Ortholog
    GDF6, growth differentiation factor 6
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BMP13, BMP-13, CDMP2, KFM, KFS, KFS1, KFSL, LCA17, MCOP4, MCOPCB6, SCDO4, SGM1
  • Links
    NCBI Gene ID: 392255
    neXtProt AC: NX_Q6KF10

  • Chr Location
    8q22.1; chr8:96142330-96160792 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    4 with human GDF6 associations

Human Disease Mouse Models
       Klippel-Feil Syndrome 1, Autosomal Dominant; KFS1   OMIM: 118100
Leber Congenital Amaurosis 17; LCA17   OMIM: 615360
Microphthalmia, Isolated 4; MCOP4   OMIM: 613094
Microphthalmia, Isolated, with Coloboma 6; MCOPCB6   OMIM: 613703
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    20 phenotypes from 2 alleles in 2 genetic backgrounds
    12 phenotypes from multigenic genotypes
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
Homozygous null mice show multiple joint and skeletal patterning defects affecting the extremities, inner ear, and skull.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    67 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000007924 growth/differentiation factor 6
  • InterPro Domains
    IPR029034 Cystine-knot cytokine
    IPR002405 Inhibin, alpha subunit
    IPR017948 Transforming growth factor beta, conserved site
    IPR001839 Transforming growth factor-beta, C-terminal
    IPR001111 Transforming growth factor-beta, N-terminal
    IPR015615 Transforming growth factor-beta-related
Molecular
Reagents
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  • All nucleic 13
    Genomic 1
    cDNA 9
    Primer pair 3

    Microarray probesets 1
Other
Accession IDs
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MGD-MRK-10042
References
more
  • Summaries
    All 39
    Developmental Gene Expression 12
    Gene Ontology 7
    Phenotypes 9
  • 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:229306 Indjeian VB, et al., Evolving New Skeletal Traits by cis-Regulatory Changes in Bone Morphogenetic Proteins. Cell. 2016 Jan 14;164(1-2):45-56

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
05/17/2016
MGI 6.03
The Jackson Laboratory