• Gene id: 2658

Gene Summary

• Gene Symbol: GDF2   Gene   UCSC   Ensembl
• Aliases: BMP-9, BMP9, HHT5
• Gene name: growth differentiation factor 2
• Alternate names: growth/differentiation factor 2, bone morphogenetic protein 9,
• Gene location: 10q11.22 (47322453: 47327587)     Exons: 2     NC_000010.11
• 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
• OMIM: 608554

SNPs

rs3743104

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.32731784A>C
NC_000015.10   g.32731784A>G
NC_000015.10   g.32731784A>T
NC_000015.9   g.33023985A>C
NC_000015.9   g.33023985A>G
NC_000015.9   g.33023985A>T
NG_033791.1   g.18781A>C
NG_033791.1   g.18781A>G
NG_033791.1   g.18781A>T
NG_033791.2   g.18781A>C

Protein Summary

• Protein general information: Q9UK05  
  • Name: Growth/differentiation factor 2 (GDF 2) (Bone morphogenetic protein 9) (BMP 9)
  • Length: 429  
  • Mass: 47320
  • Tissue specificity: Detected in blood plasma (at protein level). {ECO
• Sequence:

  MCPGALWVALPLLSLLAGSLQGKPLQSWGRGSAGGNAHSPLGVPGGGLPEHTFNLKMFLENVKVDFLRSLNLSGV
  PSQDKTRVEPPQYMIDLYNRYTSDKSTTPASNIVRSFSMEDAISITATEDFPFQKHILLFNISIPRHEQITRAEL
  RLYVSCQNHVDPSHDLKGSVVIYDVLDGTDAWDSATETKTFLVSQDIQDEGWETLEVSSAVKRWVRSDSTKSKNK
  LEVTVESHRKGCDTLDISVPPGSRNLPFFVVFSNDHSSGTKETRLELREMISHEQESVLKKLSKDGSTEAGESSH
  EEDTDGHVAAGSTLARRKRSAGAGSHCQKTSLRVNFEDIGWDSWIIAPKEYEAYECKGGCFFPLADDVTPTKHAI
  VQTLVHLKFPTKVGKACCVPTKLSPISVLYKDDMGVPTLKYHYEGMSVAECGCR

• Structural information:
  • Interpro: IPR029034  IPR001839  IPR001111  IPR015615  IPR017948  
  • Prosite: PS00250 PS51362
  • PDB: 1ZKZ 4FAO 4MPL 4YCG 4YCI 5HZW 5I05
  • PDBsum: 1ZKZ 4FAO 4MPL 4YCG 4YCI 5HZW 5I05
  • STRING: ENSP00000463051
• Other Databases: GeneCards:  GDF2  Malacards:  GDF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060395	SMAD protein signal transduction	IBA	biological process
GO:0005125	cytokine activity	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0030509	BMP signaling pathway	IBA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	biological process
GO:0001937	negative regulation of endothelial cell proliferation	IDA	biological process
GO:0016525	negative regulation of angiogenesis	TAS	biological process
GO:0001503	ossification	TAS	biological process
GO:0051216	cartilage development	TAS	biological process
GO:0006879	cellular iron ion homeostasis	TAS	biological process
GO:0008156	negative regulation of DNA replication	TAS	biological process
GO:0048514	blood vessel morphogenesis	IDA	biological process
GO:0043537	negative regulation of blood vessel endothelial cell migration	TAS	biological process
GO:0045766	positive regulation of angiogenesis	IDA	biological process
GO:0001938	positive regulation of endothelial cell proliferation	IDA	biological process
GO:0001569	branching involved in blood vessel morphogenesis	IDA	biological process
GO:0001525	angiogenesis	IMP	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0005125	cytokine activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0001525	angiogenesis	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0030509	BMP signaling pathway	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0045603	positive regulation of endothelial cell differentiation	IEA	biological process
GO:0030513	positive regulation of BMP signaling pathway	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0001570	vasculogenesis	IEA	biological process
GO:0061036	positive regulation of cartilage development	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0001938	positive regulation of endothelial cell proliferation	IEA	biological process
GO:0001569	branching involved in blood vessel morphogenesis	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045766	positive regulation of angiogenesis	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0010596	negative regulation of endothelial cell migration	IDA	biological process
GO:0030308	negative regulation of cell growth	IDA	biological process
GO:0032757	positive regulation of interleukin-8 production	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0060389	pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0071773	cellular response to BMP stimulus	IDA	biological process
GO:2000279	negative regulation of DNA biosynthetic process	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0032924	activin receptor signaling pathway	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction

Diseases

Associated diseases	References
Hereditary hemorrhagic telangiectasia	KEGG:H00533
Hereditary hemorrhagic telangiectasia	KEGG:H00533
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq