• Gene id: 7044

Gene Summary

• Gene Symbol: LEFTY2   Gene   UCSC   Ensembl
• Aliases: EBAF, LEFTA, LEFTYA, TGFB4
• Gene name: left-right determination factor 2
• Alternate names: left-right determination factor 2, TGF-beta-4, endometrial bleeding-associated factor, left-right determination factor A, protein lefty-2, protein lefty-A, transforming growth factor beta-4,
• Gene location: 1q42.12 (225941491: 225936597)     Exons: 6     NC_000001.11
• 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: 600238

SNPs

rs761237686

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000001.11   g.244605785_244605790del
NC_000001.10   g.244769087_244769092del
NG_029082.1   g.149415_149420del
NM_173807.5   c.2394_2399del
NM_173807.4   c.2394_2399del
NM_001130957.2   c.2394_2399del
NM_001130957.1   c.2394_2399del
NM_001242340.1   c.1941_1946del

Protein Summary

• Protein general information: O00292  
  • Name: Left right determination factor 2 (Endometrial bleeding associated factor) (Left right determination factor A) (Protein lefty 2) (Protein lefty A) (Transforming growth factor beta 4) (TGF beta 4)
  • Length: 366  
  • Mass: 40920
  • Tissue specificity: Mesenchymal cells of the endometrial stroma.
• Sequence:

  MWPLWLCWALWVLPLAGPGAALTEEQLLGSLLRQLQLSEVPVLDRADMEKLVIPAHVRAQYVVLLRRSHGDRSRG
  KRFSQSFREVAGRFLASEASTHLLVFGMEQRLPPNSELVQAVLRLFQEPVPKAALHRHGRLSPRSAQARVTVEWL
  RVRDDGSNRTSLIDSRLVSVHESGWKAFDVTEAVNFWQQLSRPRQPLLLQVSVQREHLGPLASGAHKLVRFASQG
  APAGLGEPQLELHTLDLRDYGAQGDCDPEAPMTEGTRCCRQEMYIDLQGMKWAKNWVLEPPGFLAYECVGTCQQP
  PEALAFNWPFLGPRQCIASETASLPMIVSIKEGGRTRPQVVSLPNMRVQKCSCASDGALVPRRLQP

• Structural information:
  • Interpro: IPR029034  IPR003942  IPR001839  IPR001111  IPR015615   IPR017948  
  • Prosite: PS00250 PS51362
  • STRING: ENSP00000355785
• Other Databases: GeneCards:  LEFTY2  Malacards:  LEFTY2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005125	cytokine activity	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0060395	SMAD protein signal transduction	IBA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	biological process
GO:0030509	BMP signaling pathway	IBA	biological process
GO:0005160	transforming growth factor beta receptor binding	IEA	molecular function
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:0008083	growth factor activity	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0002576	platelet degranulation	TAS	biological process
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa04350	TGF-beta signaling pathway

Diseases

Associated diseases	References
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