WFDC2 (WAP four-disulfide core domain 2)

Gene Gene information from NCBI Gene database.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 10406
Gene name WAP four-disulfide core domain 2
Gene symbol WFDC2
Synonyms (NCBI Gene)
BENPEDDM4HE4WAP5dJ461P17.6
Chromosome 20
Chromosome location 20q13.12
Summary This gene encodes a protein that is a member of the 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 in many family members
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
Transcription factor Regulation Reference
NFIB Unknown 17511965
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (15)
GO ID Ontology Definition Evidence Reference
GO:0004866 Function Endopeptidase inhibitor activity TAS 1686187
GO:0004867 Function Serine-type endopeptidase inhibitor activity IBA
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0004869 Function Cysteine-type endopeptidase inhibitor activity IEA
GO:0005515 Function Protein binding IPI 25362534, 31210752, 32296183, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617548 15939 ENSG00000101443
Protein Protein information from UniProt database.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14508
Protein name WAP four-disulfide core domain protein 2 (Epididymal secretory protein E4) (Major epididymis-specific protein E4) (Putative protease inhibitor WAP5)
Protein function Broad range protease inhibitor.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00095 WAP 32 → 73 Domain
PF00095 WAP 76 → 122 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in a number of normal tissues, including male reproductive system, regions of the respiratory tract and nasopharynx. Highly expressed in a number of tumors cells lines, such ovarian, colon, breast, lung and renal cells lines.
Sequence
Sequence length 124
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene Transcription factors Gene ontology Other IDs Protein 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)
Show/Hide Unknown Diseases (2)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BRONCHIECTASIS AND NASAL POLYPOSIS — ClinVar, HPO
ClinVar, HPO
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (66)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 27983524, 34452565 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 23084584, 29745428 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 16607372
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Ductal Breast Ductal carcinoma of breast Pubtator 34452565 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Endometrioid Endometrioid carcinoma Pubtator 26531723 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma in Situ Carcinoma in situ Pubtator 28326512 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 31658049
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 22430259, 22962406, 23880844, 23891789, 26310488, 29745088, 31305389, 32444701, 33934540, 34006887 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Transitional Cell Transitional cell carcinoma Pubtator 16607372 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 12839961, 14984958, 23129262, 24389815, 24789859, 25354091, 25626535, 26928556, 28679402, 29584739, 29740539, 31305389, 31477564
★★★★★
★☆☆☆☆
Found in Text Mining only