• Gene id: 128488

Gene Summary

• Gene Symbol: WFDC12   Gene   UCSC   Ensembl
• Aliases: C20orf122, SWAM2, WAP2, dJ211D12.4
• Gene name: WAP four-disulfide core domain 12
• Alternate names: WAP four-disulfide core domain protein 12, protease inhibitor WAP2, putative protease inhibitor WAP12, single WAP motif protein 2, whey acidic protein 2,
• Gene location: 20q13.12 (45124464: 45123424)     Exons: 3     NC_000020.11
• Gene summary(Entrez): This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFD
• OMIM: 114850

Protein Summary

• Protein general information: Q8WWY7  
  • Name: WAP four disulfide core domain protein 12 (Putative protease inhibitor WAP12) (Whey acidic protein 2)
  • Length: 111  
  • Mass: 12050
  • Tissue specificity: Highly expressed in prostate, skin, lung and esophagus. Weakly expressed in skeletal muscle, epididymis, kidney, trachea, salivary gland, testis and seminal vesicle.
• Sequence:

  MGSSSFLVLMVSLVLVTLVAVEGVKEGIEKAGVCPADNVRCFKSDPPQCHTDQDCLGERKCCYLHCGFKCVIPVK
  ELEEGGNKDEDVSRPYPEPGWEAKCPGSSSTRCPQK

• Structural information:
  • Protein Domains: (27..7-)
    (/note="WAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00722"-)
  • Interpro: IPR036645  IPR008197  
  • Prosite: PS51390
  • STRING: ENSP00000361871
• Other Databases: GeneCards:  WFDC12  Malacards:  WFDC12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0019731	antibacterial humoral response	IBA	biological process
GO:0045087	innate immune response	IBA	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IBA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0042742	defense response to bacterium	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0042742	defense response to bacterium	ISS	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	NAS	molecular function

Diseases

Associated diseases	References
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