• Gene id: 157310

Gene Summary

• Gene Symbol: PEBP4   Gene   UCSC   Ensembl
• Aliases: CORK-1, CORK1, GWTM1933, HEL-S-300, PEBP-4, PRO4408, hPEBP4
• Gene name: phosphatidylethanolamine binding protein 4
• Alternate names: phosphatidylethanolamine-binding protein 4, cousin-of-RKIP 1 protein, epididymis secretory protein Li 300, epididymis secretory sperm binding protein, protein cousin-of-RKIP 1,
• Gene location: 8p21.3 (22941076: 22713250)     Exons: 9     NC_000008.11
• Gene summary(Entrez): The phosphatidylethanolamine (PE)-binding proteins, including PEBP4, are an evolutionarily conserved family of proteins with pivotal biologic functions, such as lipid binding and inhibition of serine proteases (Wang et al., 2004 [PubMed 15302887]).[suppli
• OMIM: 607817

SNPs

rs17088625

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

NC_000008.11   g.22790337T>C
NC_000008.10   g.22647850T>C|SEQ=[T/C]|GENE=PEBP4

Protein Summary

• Protein general information: Q96S96  
  • Name: Phosphatidylethanolamine binding protein 4 (PEBP 4) (hPEBP4) (Protein cousin of RKIP 1)
  • Length: 227  
  • Mass: 25733
  • Tissue specificity: Ubiquitously expressed. Highly expressed in tumor cells. {ECO
• Sequence:

  MGWTMRLVTAALLLGLMMVVTGDEDENSPCAHEALLDEDTLFCQGLEVFYPELGNIGCKVVPDCNNYRQKITSWM
  EPIVKFPGAVDGATYILVMVDPDAPSRAEPRQRFWRHWLVTDIKGADLKKGKIQGQELSAYQAPSPPAHSGFHRY
  QFFVYLQEGKVISLLPKENKTRGSWKMDRFLNRFHLGEPEASTQFMTQNYQDSPTLQAPRERASEPKHKNQAEIA
  AC

• Structural information:
  • Interpro: IPR008914  IPR036610  IPR035810  IPR001858  
  • Prosite: PS01220
  • CDD: cd00866
  • STRING: ENSP00000256404
• Other Databases: GeneCards:  PEBP4  Malacards:  PEBP4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005764	lysosome	IEA	cellular component

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