WFDC12 (WAP four-disulfide core domain 12)

Gene

• Entrez ID: 128488
• Gene name: WAP four-disulfide core domain 12
• Gene symbol: WFDC12
• Synonyms (NCBI Gene): C20orf122, SWAM2, WAP2, dJ211D12.4
• Chromosome: 20
• Chromosome location: 20q13.12
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1492318	hsa-miR-3153	CLIP-seq
MIRT1492319	hsa-miR-3168	CLIP-seq
MIRT1492320	hsa-miR-3922-5p	CLIP-seq
MIRT1492321	hsa-miR-3927	CLIP-seq
MIRT1492322	hsa-miR-4277	CLIP-seq
MIRT1492323	hsa-miR-4451	CLIP-seq
MIRT1492324	hsa-miR-4505	CLIP-seq
MIRT1492325	hsa-miR-4646-5p	CLIP-seq
MIRT1492326	hsa-miR-4747-5p	CLIP-seq
MIRT1492327	hsa-miR-4777-5p	CLIP-seq
MIRT1492328	hsa-miR-485-5p	CLIP-seq
MIRT1492329	hsa-miR-518d-5p	CLIP-seq
MIRT1492330	hsa-miR-519b-5p	CLIP-seq
MIRT1492331	hsa-miR-519c-5p	CLIP-seq
MIRT1492332	hsa-miR-520c-5p	CLIP-seq
MIRT1492333	hsa-miR-526a	CLIP-seq
MIRT1492334	hsa-miR-548k	CLIP-seq
MIRT1492335	hsa-miR-582-5p	CLIP-seq
MIRT1492336	hsa-miR-600	CLIP-seq
MIRT2368861	hsa-miR-1226	CLIP-seq
MIRT2368862	hsa-miR-124	CLIP-seq
MIRT1492319	hsa-miR-3168	CLIP-seq
MIRT1492320	hsa-miR-3922-5p	CLIP-seq
MIRT1492322	hsa-miR-4277	CLIP-seq
MIRT1492324	hsa-miR-4505	CLIP-seq
MIRT2368863	hsa-miR-4530	CLIP-seq
MIRT1492327	hsa-miR-4777-5p	CLIP-seq
MIRT1492328	hsa-miR-485-5p	CLIP-seq
MIRT2368864	hsa-miR-506	CLIP-seq
MIRT1492329	hsa-miR-518d-5p	CLIP-seq
MIRT1492330	hsa-miR-519b-5p	CLIP-seq
MIRT1492331	hsa-miR-519c-5p	CLIP-seq
MIRT1492332	hsa-miR-520c-5p	CLIP-seq
MIRT1492333	hsa-miR-526a	CLIP-seq
MIRT1492335	hsa-miR-582-5p	CLIP-seq
MIRT1492336	hsa-miR-600	CLIP-seq
MIRT2368865	hsa-miR-634	CLIP-seq
MIRT2368866	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IBA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	NAS	11779191
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0019731	Process	Antibacterial humoral response	IBA
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0042742	Process	Defense response to bacterium	IEA
GO:0042742	Process	Defense response to bacterium	ISS
GO:0045087	Process	Innate immune response	IBA

Other IDs

• MIM: 609872
• HGNC: 16115
• e!Ensembl: ENSG00000168703

Protein

• UniProt ID: Q8WWY7
• Protein name: WAP four-disulfide core domain protein 12 (Putative protease inhibitor WAP12) (Whey acidic protein 2)
• Protein function: Antibacterial protein. Putative acid-stable proteinase inhibitor.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00095	WAP	30 → 73		Domain

• Tissue specificity: 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:

  MGSSSFLVLMVSLVLVTLVAVEGVKEGIEKAGVCPADNVRCFKSDPPQCHTDQDCLGERK
  CCYLHCGFKCVIPVKELEEGGNKDEDVSRPYPEPGWEAKCPGSSSTRCPQK

• Sequence length: 111

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Darier Disease	Darier disease	Pubtator	33157095	Stimulate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	33157095	Stimulate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	33157095	Stimulate	★☆☆☆☆ Found in Text Mining only