GDF3 (growth differentiation factor 3)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9573
Gene name Growth differentiation factor 3
Gene symbol GDF3
Synonyms (NCBI Gene)
KFS3MCOP7MCOPCB6
Chromosome 12
Chromosome location 12p13.31
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
SNPs SNP information provided by dbSNP.
5
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs140926412 G>A,T Likely-benign, pathogenic Missense variant, coding sequence variant
rs146973734 C>T Pathogenic Missense variant, coding sequence variant
rs387906945 A>C,G Likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs387906946 G>A Pathogenic Missense variant, coding sequence variant
rs780787386 C>G,T Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT736570 hsa-miR-483-3p Luciferase reporter assayWestern blottingMicroarrayImmunohistochemistry (IHC)qRT-PCR 22223106
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
NANOG Unknown 22963770
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IMP 19864492
GO:0001654 Process Eye development IMP 19864492
GO:0001701 Process In utero embryonic development IEA
GO:0002021 Process Response to dietary excess IEA
GO:0005125 Function Cytokine activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606522 4218 ENSG00000184344
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NR23
Protein name Growth/differentiation factor 3 (GDF-3)
Protein function Growth factor involved in early embryonic development and adipose-tissue homeostasis. During embryogenesis controls formation of anterior visceral endoderm and mesoderm and the establishment of anterior-posterior identity through a receptor comp
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00019 TGF_beta 263 → 363 Transforming growth factor beta like domain Domain
Sequence 
MLRFLPDLAFSFLLILALGQAVQFQEYVFLQFLGLDKAPSPQKFQPVPYILKKIFQDREA
AATTGVSRDLCYVKELGVRGNVLRFLPDQGFFLYPKKISQASSCLQKLLYFNLSAIKERE
QLTLAQLGLDLGPNSYYNLGPELELALFLVQEPHVWGQTTPKPGKMFVLRSVPWPQGAVH
FNLLDVAKDWNDNPRKNFGLFLEILVKEDRDSGVNFQPEDTCARLRCSLHASLLVVTLNP
DQCHPSRKRRAAIPVPKLSCKNLCHRHQLFINFRDLGWHKWIIAPKGFMANYCHGECPFS
LTISLNSSNYAFMQALMHAVDPEIPQAVCIPTKLSPISMLYQDNNDNVILRHYEDMVVDE
CGCG
Sequence length 364
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Cytokine-cytokine receptor interaction  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (9)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
GDF3-related disorder Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity rs144017935, rs1864172994, rs1478637864, rs140926412, rs112895783, rs141133108 RCV003958561
RCV003421166
RCV003964415
RCV003924856
RCV003933237
RCV003970731
Hemivertebrae Conflicting classifications of pathogenicity rs140926412 RCV000414875
Isolated microphthalmia 7 Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign rs387906945, rs146973734, rs387906946, rs112895783 RCV000023557
RCV000023558
RCV005400419
RCV002505405
Klippel-Feil syndrome 3, autosomal dominant Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity rs752330502, rs12819884, rs17727707, rs144017935, rs751673182, rs775800295, rs140926412, rs387906945, rs387906946, rs2302516, rs934067367, rs774437736, rs910081119, rs112895783, rs141133108
View all (2 more)		 RCV001397103
RCV001511283
RCV001511798
RCV002204782
RCV002790042
RCV003984989
RCV000023555
RCV001516658
RCV005400419
RCV000545019
RCV000648404
RCV000813728
RCV000796377
RCV000945861
RCV000951872
RCV000890814
RCV001217236
Show/Hide Text Mining Associations (14)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 16228988, 25127259
Breast Neoplasms Inhibit 22488170
Carcinogenesis Associate 27803451
Carcinoma Embryonal Associate 22963770, 27803451
Coloboma Associate 24281366
Diabetes Gestational Stimulate 35547007
Fetal Macrosomia Associate 35547007
Klippel Feil Syndrome Associate 23620759, 26238661, 32278351
Microphthalmos Associate 24281366
Neoplasms Associate 23950971