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Gdf3 Gene Detail
Summary
  • Symbol
    Gdf3
  • Name
    growth differentiation factor 3
  • Synonyms
    ecat9, Gdf-3, Vgr2, Vgr-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:95686
    NCBI Gene: 14562
  • Gene Overview
    MyGene.info: GDF3
Location & Maps
more
  • Sequence Map
    Chr6:122605403-122610087 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      4685 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 57.70 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    GDF3, growth differentiation factor 3
  • Vertebrate Orthologs
    11
  • Human Ortholog
    GDF3, growth differentiation factor 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    KFS3, MCOP7, MCOPCB6
  • Links
    NCBI Gene ID: 9573
    neXtProt AC: NX_Q9NR23

  • Chr Location
    12p13.1; chr12:7689785-7695764 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with human GDF3 associations

Human Disease Mouse Models
       Klippel-Feil Syndrome 3, Autosomal Dominant; KFS3   OMIM: 613702
Microphthalmia, Isolated 7; MCOP7   OMIM: 613704
Microphthalmia, Isolated, with Coloboma 6; MCOPCB6   OMIM: 613703
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    26 phenotypes from 3 alleles in 3 genetic backgrounds
    8 phenotypes from multigenic genotypes
    10 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
    44
  • Gene trapped
    40
  • Targeted
    4
  • Incidental Mutations
Mice homozygous for a null allele exhibit prenatal lethality and resistance to diet-induced obesity.
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 OTTMUSG00000021509 VEGA Gene Model | MGI Sequence Detail 4685 C57BL/6J ±  kb
transcript OTTMUST00000050988 VEGA | MGI Sequence Detail 2125 Not Applicable  
polypeptide OTTMUSP00000023934 VEGA | MGI Sequence Detail 366 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    17 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000007922 growth/differentiation factor 3
  • 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 27
    Genomic 1
    cDNA 23
    Primer pair 2
    Other 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-10034, MGD-MRK-10039, MGD-MRK-15389, MGD-MRK-15391, MGI:2141745
References
more
  • Summaries
    All 53
    Developmental Gene Expression 14
    Gene Ontology 8
    Phenotypes 10
  • Earliest
    J:3327 Jones CM, et al., Isolation of Vgr-2, a novel member of the transforming growth factor-beta-related gene family. Mol Endocrinol. 1992 Nov;6(11):1961-8
  • Latest
    J:219394 Boroviak T, et al., The ability of inner-cell-mass cells to self-renew as embryonic stem cells is acquired following epiblast specification. Nat Cell Biol. 2014 Jun;16(6):516-28

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
09/20/2016
MGI 6.05
The Jackson Laboratory