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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
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
  • Synonyms
    BDA1C, BMP14, BMP-14, CDMP1, LAP4, LAP-4, OS5, SYM1B, SYNS2
  • Links
    NCBI Gene ID: 8200
    neXtProt AC: NX_P43026

  • Chr Location
    20q11.2; chr20:35433347-35441387 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    8 with Gdf5 mouse models; 9 with human GDF5 associations

Human Disease Mouse Models
       Acromesomelic Dysplasia, Hunter-Thompson Type; AMDH   OMIM: 201250 View 1 model
Brachydactyly, Type A1, C; BDA1C   OMIM: 615072 View 1 model
Brachydactyly, Type A2; BDA2   OMIM: 112600 View 1 model
Brachydactyly, Type C; BDC   OMIM: 113100 View 1 model
Chondrodysplasia, Grebe Type   OMIM: 200700 View 1 model
Fibular Hypoplasia and Complex Brachydactyly   OMIM: 228900 View 1 model
Multiple Synostoses Syndrome 2; SYNS2   OMIM: 610017 View 1 model
       Osteoarthritis Susceptibility 1; OS1   OMIM: 165720 View 1 model
       Osteoarthritis Susceptibility 5; OS5   OMIM: 612400
Symphalangism, Proximal, 1B; SYM1B   OMIM: 615298
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 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
    1 images
    42 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.
  • All Mutations and Alleles
    13
  • Chemically induced (ENU)
    2
  • Gene trapped
    1
  • Spontaneous
    8
  • Targeted
    2
  • Incidental Mutations
    APF
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
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
Interactions
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Sequences &
Gene Models
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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
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  • SNPs within 2kb
    58 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000000281 growth/differentiation factor 5
  • InterPro Domains
    IPR029034 Cystine-knot cytokine
    IPR002405 Inhibin, alpha subunit
    IPR017948 Transforming growth factor beta, conserved site
    IPR001839 Transforming growth factor-beta, C-terminal
    IPR001111 Transforming growth factor-beta, N-terminal
    IPR015615 Transforming growth factor-beta-related
Molecular
Reagents
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  • All nucleic 30
    Genomic 1
    cDNA 13
    Primer pair 4
    Other 12

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-10041, MGD-MRK-1609, MGD-MRK-1633, MGI:88193
References
more
  • Summaries
    All 174
    Developmental Gene Expression 101
    Diseases 2
    Gene Ontology 13
    Phenotypes 42
  • Earliest
    J:19596 Landauer W, Brachypodism - A recessive mutation of house-mice. J Hered. 1952;43:293-8
  • Latest
    J:229534 O'Keeffe GW, et al., Region-specific role of growth differentiation factor-5 in the establishment of sympathetic innervation. Neural Dev. 2016;11(1):4

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory