• Gene id: 151449

Gene Summary

• Gene Symbol: GDF7   Gene   UCSC   Ensembl
• Aliases: BMP12
• Gene name: growth differentiation factor 7
• Alternate names: growth/differentiation factor 7, GDF-7,
• Gene location: 2p24.1 (20667143: 20679242)     Exons: 2     NC_000002.12
• 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
• OMIM: 608934

Protein Summary

• Protein general information: Q7Z4P5  
  • Name: Growth/differentiation factor 7 (GDF 7)
  • Length: 450  
  • Mass: 46950
• Sequence:

  MDLSAAAALCLWLLSACRPRDGLEAAAVLRAAGAGPVRSPGGGGGGGGGGRTLAQAAGAAAVPAAAVPRARAARR
  AAGSGFRNGSVVPHHFMMSLYRSLAGRAPAGAAAVSASGHGRADTITGFTDQATQDESAAETGQSFLFDVSSLND
  ADEVVGAELRVLRRGSPESGPGSWTSPPLLLLSTCPGAARAPRLLYSRAAEPLVGQRWEAFDVADAMRRHRREPR
  PPRAFCLLLRAVAGPVPSPLALRRLGFGWPGGGGSAAEERAVLVVSSRTQRKESLFREIRAQARALGAALASEPL
  PDPGTGTASPRAVIGGRRRRRTALAGTRTAQGSGGGAGRGHGRRGRSRCSRKPLHVDFKELGWDDWIIAPLDYEA
  YHCEGLCDFPLRSHLEPTNHAIIQTLLNSMAPDAAPASCCVPARLSPISILYIDAANNVVYKQYEDMVVEACGCR

• Structural information:
  • Interpro: IPR029034  IPR001839  IPR001111  IPR015615  IPR017948  
  • Prosite: PS00250 PS51362
  • STRING: ENSP00000272224
• Other Databases: GeneCards:  GDF7  Malacards:  GDF7

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:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005125	cytokine activity	IEA	molecular function
GO:0008083	growth factor activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0021509	roof plate formation	IEA	biological process
GO:0021527	spinal cord association neuron differentiation	IEA	biological process
GO:0021915	neural tube development	IEA	biological process
GO:0045165	cell fate commitment	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0048754	branching morphogenesis of an epithelial tube	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0022612	gland morphogenesis	IEA	biological process
GO:0030509	BMP signaling pathway	IEA	biological process
GO:0030855	epithelial cell differentiation	IEA	biological process
GO:0030901	midbrain development	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0048608	reproductive structure development	IEA	biological process
GO:0048853	forebrain morphogenesis	IEA	biological process
GO:0060571	morphogenesis of an epithelial fold	IEA	biological process
GO:2001051	positive regulation of tendon cell differentiation	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0060389	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:0032924	activin receptor signaling pathway	IDA	biological process
GO:0005576	extracellular region	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction
hsa04360	Axon guidance
hsa04390	Hippo signaling pathway
hsa04350	TGF-beta signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray