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GDF3 growth differentiation factor 3 [ Homo sapiens (human) ]

Gene ID: 9573, updated on 9-Jul-2017
Official Symbol
GDF3provided by HGNC
Official Full Name
growth differentiation factor 3provided by HGNC
Primary source
HGNC:HGNC:4218
See related
Ensembl:ENSG00000184344 MIM:606522; Vega:OTTHUMG00000168433
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KFS3; MCOP7; MCOPCB6
Summary
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein plays a role ocular and skeletal development. Mutations in this gene are associated with microphthalmia, coloboma, and skeletal abnormalities in human patients. [provided by RefSeq, Aug 2016]
Orthologs
Location:
12p13.31
Exon count:
2
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (7689785..7695764, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (7842381..7848360, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene clathrin light chain A pseudogene Neighboring gene apolipoprotein B mRNA editing enzyme catalytic subunit 1 Neighboring gene developmental pluripotency associated 3 Neighboring gene C-type lectin domain family 4 member C

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Klippel-Feil syndrome 3, autosomal dominant
MedGen: C3150967 OMIM: 613702 GeneReviews: Not available
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Microphthalmia, isolated 7
MedGen: C3150969 OMIM: 613704 GeneReviews: Not available
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Microphthalmia, isolated, with coloboma 6
MedGen: C3150968 OMIM: 613703 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
NHGRI GWA Catalog
  • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
    Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
 
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
transforming growth factor beta receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
 
cell development IBA
Inferred from Biological aspect of Ancestor
more info
 
endoderm development IEA
Inferred from Electronic Annotation
more info
 
eye development IMP
Inferred from Mutant Phenotype
more info
PubMed 
formation of anatomical boundary IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
mesoderm development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of epidermal cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of myoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
notochord development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of pathway-restricted SMAD protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
 
primitive streak formation IEA
Inferred from Electronic Annotation
more info
 
regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of cell fate commitment IDA
Inferred from Direct Assay
more info
PubMed 
response to dietary excess IEA
Inferred from Electronic Annotation
more info
 
skeletal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
somite rostral/caudal axis specification IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
growth/differentiation factor 3

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028167.1 RefSeqGene

    Range
    4972..10983
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020634.2NP_065685.1  growth/differentiation factor 3 preproprotein

    See identical proteins and their annotated locations for NP_065685.1

    Status: REVIEWED

    Source sequence(s)
    AA926805, AF263538, AY358875
    Consensus CDS
    CCDS8581.1
    UniProtKB/Swiss-Prot
    Q9NR23
    Related
    ENSP00000331745.3, OTTHUMP00000238775, ENST00000329913.3, OTTHUMT00000399717
    Conserved Domains (2) summary
    smart00204
    Location:264364
    TGFB; Transforming growth factor-beta (TGF-beta) family
    pfam00688
    Location:109220
    TGFb_propeptide; TGF-beta propeptide

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

    Range
    7689785..7695764 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    7839618..7847334 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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