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Aliases for GDF3 Gene

Aliases for GDF3 Gene

  • Growth Differentiation Factor 3 2 3 5
  • GDF-3 3 4
  • MCOPCB6 3
  • MCOP7 3
  • KFS3 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 protein kinase binding 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

Chromosome:
12
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

Genes around GDF3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GDF3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Asn 112 and Asn 306
  • 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 & Families for GDF3 Gene

Gene Families for GDF3 Gene

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 :
  • Belongs to the TGF-beta family.
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:0005160 transforming growth factor beta receptor binding IBA --
genes like me logo Genes that share ontologies with GDF3: view
genes like me logo Genes that share phenotypes with GDF3: view

Human Phenotype Ontology for GDF3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GDF3 Gene

MGI Knock Outs for GDF3:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 5
golgi apparatus 1

No data available for Gene Ontology (GO) - Cellular Components for GDF3 Gene

Pathways & Interactions 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

Interacting Proteins for GDF3 Gene

Gene Ontology (GO) - Biological Process for GDF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001654 eye development IMP 19864492
GO:0002021 response to dietary excess IEA --
GO:0007165 signal transduction IEA --
GO:0007492 endoderm development IEA --
GO:0007498 mesoderm development IEA --
genes like me logo Genes that share ontologies with GDF3: view

No data available for SIGNOR curated interactions for GDF3 Gene

Drugs & Compounds for GDF3 Gene

No Compound Related Data Available

Transcripts for GDF3 Gene

mRNA/cDNA for GDF3 Gene

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

Unigene Clusters for GDF3 Gene

Growth differentiation factor 3:
Representative Sequences:

Inhibitory RNA 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 (x12.8) and Spleen (x6.5).

SOURCE GeneReport for Unigene cluster for GDF3 Gene Hs.86232

genes like me logo Genes that share expression patterns with GDF3: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia GDF3 35
  • 83.62 (n)
  • 80.7 (a)
-- 36
  • 78 (a)
OneToMany
-- 36
  • 78 (a)
OneToMany
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
chimpanzee
(Pan troglodytes)
Mammalia GDF3 35
  • 99.54 (n)
  • 98.9 (a)
GDF3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gdf3 35
  • 77.12 (n)
  • 68.91 (a)
oppossum
(Monodelphis domestica)
Mammalia GDF3 36
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves GDF3 35
  • 57.95 (n)
  • 48.85 (a)
CVG1 36
  • 43 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia gdf3 35
  • 56.09 (n)
  • 46.71 (a)
Str.16175 35
African clawed frog
(Xenopus laevis)
Amphibia gdf3-A-prov 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
dvr1 35
  • 53.07 (n)
  • 45.71 (a)
dvr1 36
  • 42 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1497 35
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

(3) 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
rs2302516 - 7,689,991(+) ACACA(C/G)AGCCT reference, missense
rs12819884 - 7,690,336(+) CACCC(C/T)TGAGT reference, missense
VAR_065147 Microphthalmia, isolated, 7 (MCOP7)
rs140926412 Klippel-Feil syndrome 3, autosomal dominant (KFS3), Microphthalmia, isolated, with coloboma, 6 (MCOPCB6) 7,690,177(+) GTGAC(A/G/T)GTGGC reference, missense
VAR_065149 Microphthalmia, isolated, with coloboma, 6 (MCOPCB6)

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

Variation tolerance for GDF3 Gene

Residual Variation Intolerance Score: 66.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.54; 77.81% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(19) MalaCards diseases for GDF3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
klippel-feil syndrome 3, autosomal dominant
  • kfs3
microphthalmia, isolated 7
  • microphthalmia, isolated, 7
microphthalmia with coloboma 6, digenic
  • microphthalmia with coloboma 6
klippel-feil syndrome 3
  • klippel-feil syndrome 3, autosomal dominant
klippel-feil syndrome 1, autosomal dominant
  • klippel-feil sequence
- elite association - COSMIC cancer census association via MalaCards
Search GDF3 in MalaCards View complete list of genes associated with diseases

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, 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.
  • 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.

Relevant External Links for GDF3

Genetic Association Database (GAD)
GDF3
Human Genome Epidemiology (HuGE) Navigator
GDF3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GDF3
genes like me logo Genes that share disorders with GDF3: view

No data available for Genatlas for GDF3 Gene

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 67
  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 23
  3. Testicular mixed germ cell tumors: a morphological and immunohistochemical study using stem cell markers, OCT3/4, SOX2 and GDF3, with emphasis on morphologically difficult-to-classify areas. (PMID: 19396148) Gopalan A. … Tickoo S.K. (Mod. Pathol. 2009) 3 23
  4. 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
  5. GDF-3 and GDF-9: two new members of the transforming growth factor-beta superfamily containing a novel pattern of cysteines. (PMID: 8429021) McPherron A.C. … Lee S.J. (J. Biol. Chem. 1993) 3 23

Products for GDF3 Gene

Sources for GDF3 Gene

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