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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    2 TSS
  • Regulated by
    Rr568143 (1 regulatory region)
Location &
Maps
more
  • Sequence Map
    Chr2:155782943-155787204 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 77.26 cM
  • Mapping Data
    16 experiments
Strain
Comparison
more
  • SNPs within 2kb
    150 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95688
 protein coding gene Chr2:155782943-155787287 (-)
129S1/SvImJ ENSMUSG00200016469
 protein coding gene Chr2:152655889-152660212 (-)
A/J ENSMUSG00195016609
 protein coding gene Chr2:153011185-153015529 (-)
AKR/J ENSMUSG00220040618
 protein coding gene Chr2:152300658-152305002 (-)
BALB/cJ ENSMUSG00180044387
 protein coding gene Chr2:152486301-152490668 (-)
C3H/HeJ ENSMUSG00175048161
 protein coding gene Chr2:153236733-153241100 (-)
C57BL/6NJ ENSMUSG00215035902
 protein coding gene Chr2:152630881-152635225 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024543
 protein coding gene Chr2:147902252-147906538 (-)
CAST/EiJ ENSTCUG00005042940
 protein coding gene Chr2:151621071-151625375 (-)
CBA/J ENSMUSG00210016704
 protein coding gene Chr2:153167840-153172207 (-)
DBA/2J ENSMUSG00185042871
 protein coding gene Chr2:152844048-152848392 (-)
FVB/NJ ENSMUSG00205042852
 protein coding gene Chr2:151922874-151927241 (-)
JF1/MsJ ENSUMUG00000011263
 protein coding gene Chr2:152500273-152504619 (-)
LP/J no annotation
NOD/ShiLtJ ENSMUSG00190044975
 protein coding gene Chr2:152556348-152560715 (-)
NZO/HlLtJ ENSMUSG00225002829
 protein coding gene Chr2:162483349-162487696 (-)
PWK/PhJ ENSLUMG00010041957
 protein coding gene Chr2:152442271-152446620 (-)
SPRET/EiJ ENSMSPG00010030378
 protein coding gene Chr2:155244897-155249205 (-)
WSB/EiJ ENSIUOG00005046075
 protein coding gene Chr2:152241421-152245744 (-)



Homology
more
  • Human Ortholog
    GDF5, growth differentiation factor 5
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GDF5, growth differentiation factor 5
  • Synonyms
    BDA1C, BMP-14, BMP14, CDMP1, DUPANS, LAP-4, LAP4, OS5, SYM1B, SYNS2
  • Links
    NCBI Gene ID: 8200
    UniProt: P43026

  • Chr Location
    20q11.22; chr20:35433347-35454749 (-)  GRCh38
Human Diseases
more
  • Diseases
    8 with Gdf5 mouse models; 13 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
      
IDs
IDs
IDs
IDs
IDs
IDs
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
less
  • Phenotype Summary
    63 phenotypes from 12 alleles in 13 genetic backgrounds
    19 phenotypes from multigenic genotypes
    4 images
    63 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
less
  • All GO Annotations
    53
  • GO References
    16
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
membraneless 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
    1019
  • Tissues
    225
  • cDNA Data
    23
  • Literature Summary
    148
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14563 NCBI Gene Model | MGI Sequence Detail 4262 C57BL/6J ±  kb
    transcript NM_008109 RefSeq | MGI Sequence Detail 2237 C57BL/6  
    polypeptide P43027 UniProt | EBI | MGI Sequence Detail 495 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 58
      Genomic 1
      cDNA 24
      Primer pair 12
      Other 21

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-10041, MGD-MRK-1609, MGD-MRK-1633, MGI:88193
    References
    more
    • Summaries
      All 265
      Developmental Gene Expression 148
      Diseases 3
      Gene Ontology 16
      Phenotypes 63
    • Earliest
      J:19596 Landauer W, Brachypodism - A recessive mutation of house-mice. J Hered. 1952;43(6):293-8
    • Latest
      J:390509 Huang BL, et al., A pivotal Wnt antagonist role promoting digit joint specification by constraining Wnt activity. Nat Commun. 2026 May 26;17(1)
    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
    09/01/2026
    MGI 6.24     		The Jackson Laboratory