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

Gene ID: 9573, updated on 29-Jul-2014
Official Symbol
GDF3provided by HGNC
Official Full Name
growth differentiation factor 3provided by HGNC
Primary source
HGNC:4218
Locus tag
UNQ222/PRO248
See related
Ensembl:ENSG00000184344; HPRD:05938; 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
The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. [provided by RefSeq, Jul 2008]
See GDF3 in Epigenomics, MapViewer
Location:
12p13.1
Exon count:
2
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 polypeptide 1 Neighboring gene developmental pluripotency associated 3 Neighboring gene C-type lectin domain family 4, member C

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
not available
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

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine activity IEA
Inferred from Electronic Annotation
more info
 
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
protein kinase binding IPI
Inferred from Physical Interaction
more info
 
Process Evidence Code Pubs
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
 
growth 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 
notochord development IEA
Inferred from Electronic Annotation
more info
 
primitive streak formation IEA
Inferred from Electronic Annotation
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
 
signal transduction 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
 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
growth/differentiation factor 3
Names
growth/differentiation factor 3
GDF-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 

    Range
    5001..10980
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020634.1NP_065685.1  growth/differentiation factor 3 precursor

    See proteins identical to NP_065685.1

    Status: REVIEWED

    Source sequence(s)
    AF263538
    Consensus CDS
    CCDS8581.1
    UniProtKB/Swiss-Prot
    Q9NR23
    Related
    ENSP00000331745, OTTHUMP00000238775, ENST00000329913, OTTHUMT00000399717
    Conserved Domains (2) summary
    smart00204
    Location:264364
    Blast Score: 448
    TGFB; Transforming growth factor-beta (TGF-beta) family
    pfam00688
    Location:23237
    Blast Score: 291
    TGFb_propeptide; TGF-beta propeptide

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

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

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    7656489..7662465
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

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