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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
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:155941023-155945364 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 77.26 cM
  • Mapping Data
    16 experiments
Strain
Comparison
more
  • SNPs within 2kb
    58 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95688
protein coding gene Chr2:155941023-155945367 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026749
protein coding gene Chr2:160795102-160799425 (-)
A/J MGP_AJ_G0026715
protein coding gene Chr2:154408292-154412636 (-)
AKR/J MGP_AKRJ_G0026686
protein coding gene Chr2:158893320-158897664 (-)
BALB/cJ MGP_BALBcJ_G0026724
protein coding gene Chr2:154704122-154708489 (-)
C3H/HeJ MGP_C3HHeJ_G0026467
protein coding gene Chr2:159250027-159254394 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027173
protein coding gene Chr2:165507982-165512326 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024543
protein coding gene Chr2:147902252-147906538 (-)
CAST/EiJ MGP_CASTEiJ_G0025928
protein coding gene Chr2:159573911-159578215 (-)
CBA/J MGP_CBAJ_G0026444
protein coding gene Chr2:171510331-171514698 (-)
DBA/2J MGP_DBA2J_G0026581
protein coding gene Chr2:153584390-153588689 (-)
FVB/NJ MGP_FVBNJ_G0026548
protein coding gene Chr2:151959545-151963912 (-)
LP/J MGP_LPJ_G0026686
protein coding gene Chr2:160939427-160943748 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026569
protein coding gene Chr2:175493945-175498312 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027229
protein coding gene Chr2:158761445-158765792 (-)
PWK/PhJ MGP_PWKPhJ_G0025662
protein coding gene Chr2:153084998-153089347 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025465
protein coding gene Chr2:157713958-157718266 (-)
WSB/EiJ MGP_WSBEiJ_G0025998
protein coding gene Chr2:159656842-159661165 (-)



Homology
more
  • Human Ortholog
    GDF5, growth differentiation factor 5
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GDF5, growth differentiation factor 5
    Orthology source: HGNC, HomoloGene
  • 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
    45 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14563 NCBI Gene Model | MGI Sequence Detail 4342 C57BL/6J ±  kb
    transcript NM_008109 RefSeq | MGI Sequence Detail 2320 C57BL/6  
    polypeptide P43027 UniProt | EBI | MGI Sequence Detail 495 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 35
      Genomic 1
      cDNA 16
      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 194
      Developmental Gene Expression 116
      Diseases 3
      Gene Ontology 14
      Phenotypes 45
    • Earliest
      J:19596 Landauer W, Brachypodism - A recessive mutation of house-mice. J Hered. 1952;43:293-8
    • Latest
      J:264602 Gamer LW, et al., The Role of Bmp2 in the Maturation and Maintenance of the Murine Knee Joint. J Bone Miner Res. 2018 Sep;33(9):1708-1717

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory