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Aliases for GDF3 Gene

Aliases for GDF3 Gene

  • Growth Differentiation Factor 3 2 3
  • MCOPCB6 3 6
  • MCOP7 3 6
  • GDF-3 3 4
  • KFS3 3 6
  • Growth/Differentiation Factor 3 3

External Ids for GDF3 Gene

Previous GeneCards Identifiers for GDF3 Gene

  • GC12P007400
  • GC12M007892
  • GC12M007742
  • GC12M007733
  • GC12M007842

Summaries for GDF3 Gene

Entrez Gene Summary for GDF3 Gene

  • 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]

GeneCards Summary for GDF3 Gene

GDF3 (Growth Differentiation Factor 3) is a Protein Coding gene. Diseases associated with GDF3 include klippel-feil syndrome 3, autosomal dominant and microphthalmia, isolated 7. Among its related pathways are TGF-beta Signaling Pathway (sino). GO annotations related to this gene include cytokine activity and growth factor activity. An important paralog of this gene is BMP2.

Gene Wiki entry for GDF3 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GDF3 Gene

Genomics for GDF3 Gene

Genomic Location for GDF3 Gene

Start:
7,689,782 bp from pter
End:
7,695,776 bp from pter
Size:
5,995 bases
Orientation:
Minus strand

Genomic View for GDF3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GDF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GDF3 Gene

Proteins for GDF3 Gene

  • Protein details for GDF3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NR23-GDF3_HUMAN
    Recommended name:
    Growth/differentiation factor 3
    Protein Accession:
    Q9NR23
    Secondary Accessions:
    • Q8NEJ4

    Protein attributes for GDF3 Gene

    Size:
    364 amino acids
    Molecular mass:
    41387 Da
    Quaternary structure:
    • Homodimer or heterodimer (Potential). But, in contrast to other members of this family, cannot be disulfide-linked.

neXtProt entry for GDF3 Gene

Proteomics data for GDF3 Gene at MOPED

Post-translational modifications for GDF3 Gene

  • Glycosylation at Asn112 and Asn306
  • Modification sites at PhosphoSitePlus

Other Protein References for GDF3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GDF3 Gene

Domains for GDF3 Gene

Gene Families for GDF3 Gene

HGNC:

Suggested Antigen Peptide Sequences for GDF3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NR23

UniProtKB/Swiss-Prot:

GDF3_HUMAN :
  • Q9NR23
Family:
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with GDF3: view

Function for GDF3 Gene

Molecular function for GDF3 Gene

GENATLAS Biochemistry: growth differentiation factor 3,TGF beta superfamily member,expressed in human embryonal carcinoma cell lines in a stem cell-specific fashion

Gene Ontology (GO) - Molecular Function for GDF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IBA --
GO:0005160 transforming growth factor beta receptor binding IBA --
GO:0005515 protein binding --
GO:0008083 growth factor activity IEA --
GO:0019901 protein kinase binding IPI 21805089
genes like me logo Genes that share ontologies with GDF3: view
genes like me logo Genes that share phenotypes with GDF3: view

Animal Models for GDF3 Gene

MGI Knock Outs for GDF3:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GDF3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for GDF3 Gene

Localization for GDF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GDF3 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GDF3 Gene COMPARTMENTS Subcellular localization image for GDF3 gene
Compartment Confidence
extracellular 4
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GDF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IBA --
GO:0005737 cytoplasm IDA 21805089
genes like me logo Genes that share ontologies with GDF3: view

Pathways for GDF3 Gene

SuperPathways for GDF3 Gene

genes like me logo Genes that share pathways with GDF3: view

Pathways by source for GDF3 Gene

1 Sino Biological pathway for GDF3 Gene

PCR Array Products

Interacting Proteins for GDF3 Gene

Gene Ontology (GO) - Biological Process for GDF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IMP 19864492
GO:0001654 eye development IMP 19864492
GO:0001701 in utero embryonic development IEA --
GO:0002021 response to dietary excess IEA --
GO:0007165 signal transduction --
genes like me logo Genes that share ontologies with GDF3: view

Transcripts for GDF3 Gene

mRNA/cDNA for GDF3 Gene

(36) Selected AceView cDNA sequences:
(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GDF3 Gene

Growth differentiation factor 3:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GDF3

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GDF3 Gene

No ASD Table

Relevant External Links for GDF3 Gene

GeneLoc Exon Structure for
GDF3
ECgene alternative splicing isoforms for
GDF3

Expression for GDF3 Gene

mRNA expression in normal human tissues for GDF3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GDF3 Gene

This gene is overexpressed in Kidney - Cortex (12.8) and Spleen (6.5).

SOURCE GeneReport for Unigene cluster for GDF3 Gene Hs.86232

genes like me logo Genes that share expressions with GDF3: view

In Situ Assay Products

No data available for Protein expression and mRNA Expression by UniProt/SwissProt for GDF3 Gene

Orthologs for GDF3 Gene

This gene was present in the common ancestor of animals.

Orthologs for GDF3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GDF3 35
  • 99.54 (n)
  • 98.9 (a)
GDF3 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 78 (a)
OneToMany
-- 36
  • 78 (a)
OneToMany
GDF3 35
  • 83.62 (n)
  • 80.7 (a)
dog
(Canis familiaris)
Mammalia GDF3 35
  • 86.55 (n)
  • 81.79 (a)
GDF3 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gdf3 35
  • 77.5 (n)
  • 71.15 (a)
Gdf3 16
Gdf3 36
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GDF3 36
  • 53 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gdf3 35
  • 77.12 (n)
  • 68.91 (a)
chicken
(Gallus gallus)
Aves CVG1 36
  • 43 (a)
OneToMany
GDF3 35
  • 57.95 (n)
  • 48.85 (a)
African clawed frog
(Xenopus laevis)
Amphibia gdf3-A-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia gdf3 35
  • 56.09 (n)
  • 46.71 (a)
Str.16175 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1497 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
dvr1 35
  • 53.07 (n)
  • 45.71 (a)
dvr1 36
  • 42 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta dpp 36
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 20 (a)
OneToMany
Species with no ortholog for GDF3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GDF3 Gene

ENSEMBL:
Gene Tree for GDF3 (if available)
TreeFam:
Gene Tree for GDF3 (if available)

Paralogs for GDF3 Gene

Paralogs for GDF3 Gene

Selected SIMAP similar genes for GDF3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GDF3: view

Variants for GDF3 Gene

Sequence variations from dbSNP and Humsavar for GDF3 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs1123136 -- 7,694,712(-) CCTTG(A/G)TTAGT intron-variant
rs1123137 -- 7,694,464(-) CCCAA(C/G)TAGCT intron-variant
rs1965646 -- 7,694,435(-) CACCA(A/C)GCCCA intron-variant
rs2302516 - 7,689,991(+) ACACA(C/G)AGCCT missense, reference
rs3815479 -- 7,690,777(+) AAATG(C/T)CAGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GDF3 Gene

Variant ID Type Subtype PubMed ID
dgv5e196 CNV Duplication 17116639
dgv6e196 CNV Duplication 17116639
esv2422393 CNV Duplication 17116639
esv2666104 CNV Deletion 23128226

Relevant External Links for GDF3 Gene

HapMap Linkage Disequilibrium report
GDF3
Human Gene Mutation Database (HGMD)
GDF3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GDF3 Gene

Disorders for GDF3 Gene

(3) OMIM Diseases for GDF3 Gene (606522)

UniProtKB/Swiss-Prot

GDF3_HUMAN
  • Klippel-Feil syndrome 3, autosomal dominant (KFS3) [MIM:613702]: A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. {ECO:0000269 PubMed:19864492}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Microphthalmia, isolated, with coloboma, 6 (MCOPCB6) [MIM:613703]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). {ECO:0000269 PubMed:19864492}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Microphthalmia, isolated, 7 (MCOP7) [MIM:613704]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. {ECO:0000269 PubMed:19864492}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for GDF3 Gene

Relevant External Links for GDF3

Genetic Association Database (GAD)
GDF3
Human Genome Epidemiology (HuGE) Navigator
GDF3
genes like me logo Genes that share disorders with GDF3: view

Publications for GDF3 Gene

  1. Human growth-differentiation factor 3 (hGDF3): developmental regulation in human teratocarcinoma cell lines and expression in primary testicular germ cell tumours. (PMID: 9467948) Caricasole A.A. … van den Eijnden-van Raaij A.J. (Oncogene 1998) 2 3 23
  2. Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. (PMID: 19864492) Ye M. … Lehmann O.J. (Hum. Mol. Genet. 2010) 3 4 23
  3. Expression pattern of growth/differentiation factor 3 in human and murine cerebral cortex, hippocampus as well as cerebellum. (PMID: 16126341) Hexige S. … Yu L. (Neurosci. Lett. 2005) 3 23
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for GDF3 Gene

Sources for GDF3 Gene

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