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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
    gene page
  • Transcription Start Sites
    2 TSS
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 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
    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
    neXtProt AC: NX_P43026
    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
    61 phenotypes from 12 alleles in 13 genetic backgrounds
    19 phenotypes from multigenic genotypes
    4 images
    59 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
    50
  • GO References
    14
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
    1071
  • Tissues
    214
  • cDNA Data
    22
  • Literature Summary
    137
  • 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 ZRU/MplStud  
    polypeptide P43027 UniProt | EBI | MGI Sequence Detail 495 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 54
      Genomic 1
      cDNA 23
      Primer pair 11
      Other 19

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-10041, MGD-MRK-1609, MGD-MRK-1633, MGI:88193
    References
    more
    • Summaries
      All 231
      Developmental Gene Expression 137
      Diseases 3
      Gene Ontology 14
      Phenotypes 59
    • Earliest
      J:19596 Landauer W, Brachypodism - A recessive mutation of house-mice. J Hered. 1952;43(6):293-8
    • Latest
      J:357740 Sorsby M, et al., The role of GDF5 in regulating enthesopathy development in the Hyp mouse model of XLH. J Bone Miner Res. 2024 Aug 21;39(8):1162-1173
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory