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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
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:9844372-9862345 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 4.35 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    67 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95689
 protein coding gene Chr4:9844372-9862345 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028043
 protein coding gene Chr4:6477385-6497088 (+)
A/J MGP_AJ_G0028001
 protein coding gene Chr4:6312912-6330866 (+)
AKR/J MGP_AKRJ_G0027967
 protein coding gene Chr4:6393032-6410986 (+)
BALB/cJ MGP_BALBcJ_G0028013
 protein coding gene Chr4:6295003-6312955 (+)
C3H/HeJ MGP_C3HHeJ_G0027743
 protein coding gene Chr4:6581530-6600642 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028456
 protein coding gene Chr4:6811258-6829187 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025800
 protein coding gene Chr4:5978313-5996291 (+)
CAST/EiJ MGP_CASTEiJ_G0027197
 protein coding gene Chr4:6428152-6450267 (+)
CBA/J MGP_CBAJ_G0027718
 protein coding gene Chr4:6931593-6951494 (+)
DBA/2J MGP_DBA2J_G0027858
 protein coding gene Chr4:6275281-6294155 (+)
FVB/NJ MGP_FVBNJ_G0027825
 protein coding gene Chr4:6144750-6162698 (+)
LP/J MGP_LPJ_G0027969
 protein coding gene Chr4:6496981-6514929 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027858
 protein coding gene Chr4:7118054-7137553 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028515
 protein coding gene Chr4:6395379-6413540 (+)
PWK/PhJ MGP_PWKPhJ_G0026918
 protein coding gene Chr4:6297905-6320086 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026748
 protein coding gene Chr4:6367068-6386013 (+)
WSB/EiJ MGP_WSBEiJ_G0027276
 protein coding gene Chr4:6490104-6508568 (+)



Homology
more
  • Human Ortholog
    GDF6, growth differentiation factor 6
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GDF6, growth differentiation factor 6
  • Synonyms
    BMP13, BMP-13, CDMP2, KFM, KFS, KFS1, KFSL, SGM1, SYNS4
  • Links
    NCBI Gene ID: 392255
    neXtProt AC: NX_Q6KF10
    UniProt: Q6KF10

  • Chr Location
    8q22.1; chr8:96142333-96160806 (-)  GRCh38
Human Diseases
more
  • Diseases
    6 with human GDF6 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    37 phenotypes from 3 alleles in 3 genetic backgrounds
    12 phenotypes from multigenic genotypes
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
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
less
  • All GO Annotations
    34
  • GO References
    10
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    832
  • Tissues
    47
  • cDNA Data
    10
  • Literature Summary
    17
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 242316 NCBI Gene Model | MGI Sequence Detail 17974 C57BL/6J ±  kb
    transcript NM_013526 RefSeq | MGI Sequence Detail 3532 C57BL/6  
    polypeptide P43028 UniProt | EBI | MGI Sequence Detail 454 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 16
      Genomic 1
      cDNA 10
      Primer pair 3
      Other 2

      Microarray probesets 1
    Other
    Accession IDs
    less
    MGD-MRK-10042
    References
    more
    • Summaries
      All 52
      Developmental Gene Expression 17
      Diseases 1
      Gene Ontology 10
      Phenotypes 14
    • 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:335484 Yu T, et al., Defective Joint Development and Maintenance in GDF6-Related Multiple Synostoses Syndrome. J Bone Miner Res. 2023 Apr;38(4):568-577
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory