• Gene id: 9573

Gene Summary

• Gene Symbol: GDF3   Gene   UCSC   Ensembl
• Aliases: KFS3, MCOP7, MCOPCB6
• Gene name: growth differentiation factor 3
• Alternate names: growth/differentiation factor 3,
• Gene location: 12p13.31 (7695774: 7689783)     Exons: 2     NC_000012.12
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q9NR23  
  • Name: Growth/differentiation factor 3 (GDF 3)
  • Length: 364  
  • Mass: 41387
• Sequence:

  MLRFLPDLAFSFLLILALGQAVQFQEYVFLQFLGLDKAPSPQKFQPVPYILKKIFQDREAAATTGVSRDLCYVKE
  LGVRGNVLRFLPDQGFFLYPKKISQASSCLQKLLYFNLSAIKEREQLTLAQLGLDLGPNSYYNLGPELELALFLV
  QEPHVWGQTTPKPGKMFVLRSVPWPQGAVHFNLLDVAKDWNDNPRKNFGLFLEILVKEDRDSGVNFQPEDTCARL
  RCSLHASLLVVTLNPDQCHPSRKRRAAIPVPKLSCKNLCHRHQLFINFRDLGWHKWIIAPKGFMANYCHGECPFS
  LTISLNSSNYAFMQALMHAVDPEIPQAVCIPTKLSPISMLYQDNNDNVILRHYEDMVVDECGCG

• Structural information:
  • Interpro: IPR029034  IPR001839  IPR001111  IPR015615  IPR017948  
  • Prosite: PS00250 PS51362
  • STRING: ENSP00000331745
• Other Databases: GeneCards:  GDF3  Malacards:  GDF3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060395	SMAD protein signal transduction	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0005125	cytokine activity	IBA	molecular function
GO:0030509	BMP signaling pathway	IBA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005125	cytokine activity	IEA	molecular function
GO:0008083	growth factor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0007492	endoderm development	IEA	biological process
GO:0030903	notochord development	IEA	biological process
GO:0045600	positive regulation of fat cell differentiation	IEA	biological process
GO:0045662	negative regulation of myoblast differentiation	IEA	biological process
GO:0048859	formation of anatomical boundary	IEA	biological process
GO:0090009	primitive streak formation	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0002021	response to dietary excess	IEA	biological process
GO:0007498	mesoderm development	IEA	biological process
GO:0032525	somite rostral/caudal axis specification	IEA	biological process
GO:0045600	positive regulation of fat cell differentiation	ISS	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0010453	regulation of cell fate commitment	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0045605	negative regulation of epidermal cell differentiation	IDA	biological process
GO:0030514	negative regulation of BMP signaling pathway	IDA	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0001654	eye development	IMP	biological process
GO:0001501	skeletal system development	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction

Diseases

Associated diseases	References
Microphthalmia	KEGG:H01027
Klippel-Feil syndrome	KEGG:H00852
Microphthalmia	KEGG:H01027
Klippel-Feil syndrome	KEGG:H00852
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881