GDF3 (growth differentiation factor 3)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9573
Gene name Gene Name - the full gene name approved by the HGNC.
Growth differentiation factor 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GDF3
Synonyms (NCBI Gene) Gene synonyms aliases
KFS3, MCOP7, MCOPCB6
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.31
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT736570 hsa-miR-483-3p Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), qRT-PCR 22223106
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
NANOG Unknown 22963770
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(29)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606522 4218 ENSG00000184344
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Isolated Klippel-Feil Syndrome isolated Klippel-Feil syndrome N/A N/A GenCC
Isolated Microphthalmia-Anophthalmia-Coloboma isolated anophthalmia-microphthalmia syndrome N/A N/A GenCC
Klippel Feil syndrome klippel-feil syndrome 3, autosomal dominant N/A N/A ClinVar
Microphthalmia Isolated microphthalmia 7, isolated microphthalmia 7 N/A N/A ClinVar, GenCC
Show/Hide Text Mining Associations (14)
Associations from Text Mining Disease 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