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Gdf5 Gene Detail
Summary
  • Symbol
    Gdf5
  • Name
    growth differentiation factor 5
  • Synonyms
    bp, brp, cartilage-derived morphogenetic protein-1, CDMP-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:95688
    NCBI Gene: 14563
  • Gene Overview
    MyGene.info: GDF5
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr2:155941023-155945367 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      4345 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 77.26 cM
  • Mapping Data
    16 experiments
Homology
more
  • Human Ortholog
    GDF5, growth differentiation factor 5
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GDF5, growth differentiation factor 5
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BDA1C, BMP14, BMP-14, CDMP1, LAP4, LAP-4, OS5, SYM1B, SYNS2
  • Links
    NCBI Gene ID: 8200
    neXtProt AC: NX_P43026
    UniProt: P43026

  • Chr Location
    20q11.22; chr20:35433347-35454746 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    8 with Gdf5 mouse models; 8 with human GDF5 associations

Human Disease Mouse Models
      
IDs
View 2 models
IDs
View 1 model
IDs
View 1 model
IDs
View 1 model
IDs
View 1 model
IDs
View 1 model
IDs
View 1 model
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    49 phenotypes from 10 alleles in 11 genetic backgrounds
    19 phenotypes from multigenic genotypes
    4 images
    44 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 mutations in this gene can cause joint patterning defects leading to complete or partial fusions between specific skeletal elements and alterations in the patterns of repeating structures in the digits, wrists and ankles.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000015989 VEGA Gene Model | MGI Sequence Detail 4345 C57BL/6J ±  kb
    transcript OTTMUST00000038081 VEGA | MGI Sequence Detail 2320 Not Applicable  
    polypeptide OTTMUSP00000017076 VEGA | MGI Sequence Detail 495 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      58 from dbSNP Build 142
    • PCR
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 33
      Genomic 1
      cDNA 14
      Primer pair 5
      Other 13

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-10041, MGD-MRK-1609, MGD-MRK-1633, MGI:88193
    References
    more
    • Summaries
      All 188
      Developmental Gene Expression 112
      Diseases 3
      Gene Ontology 13
      Phenotypes 44
    • Earliest
      J:19596 Landauer W, Brachypodism - A recessive mutation of house-mice. J Hered. 1952;43:293-8
    • Latest
      J:256518 Hegarty SV, et al., Zeb2 is a negative regulator of midbrain dopaminergic axon growth and target innervation. Sci Rep. 2017 Aug 17;7(1):8568

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory