Endometriosis Knowledgebase

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Gene id

10406

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

WFDC2 Gene UCSC Ensembl

Aliases

EDDM4, HE4, WAP5, dJ461P17.6

Gene name

WAP four-disulfide core domain 2

Alternate names

WAP four-disulfide core domain protein 2, WAP domain containing protein HE4-V4, epididymal protein 4, epididymal secretory protein E4, epididymis-specific, whey-acidic protein type, four-disulfide core, major epididymis-specific protein E4, putative protease in,

Gene location

20q13.12 (45469753: 45481531) Exons: 4 NC_000020.11

Gene summary(Entrez)

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. This gene is expressed in pulmonary epithelial cells, and was also found to be expressed in some ovarian cancers. The encoded protein is a small secretory protein, which may be involved in sperm maturation. [provided by RefSeq, Jul 2008]

Protein Summary

Protein general information

Q14508

Name: WAP four disulfide core domain protein 2 (Epididymal secretory protein E4) (Major epididymis specific protein E4) (Putative protease inhibitor WAP5)

Length: 124 Mass: 12,993

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

MPACRLGPLAAALLLSLLLFGFTLVSGTGAEKTGVCPELQADQNCTQECVSDSECADNLKCCSAGCATFCSLPND
KEGSCPQVNINFPQLGLCRDQCQVDSQCPGQMKCCRNGCGKVSCVTPNF

Structural information

Protein Domains	WAP (31-73) WAP (74-123)
Interpro:	IPR008197
Prosite:	PS51390
Pfam:	PF00095
MINT:	1429295
STRING:	ENSP00000361761;

Other Databases

GeneCards: WFDC2; Malacards: WFDC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004866	endopeptidase inhibitor a ctivity	TAS	molecular_function
GO:0004867	serine-type endopeptidase inhibitor activity	IDA	molecular_function
GO:0004869	cysteine-type endopeptida se inhibitor activity	IEA	molecular_function
GO:0005615	extracellular space	TAS	cellular_component
GO:0006508	proteolysis	TAS	biological_process
GO:0007283	spermatogenesis	TAS	biological_process
GO:0010951	negative regulation of en dopeptidase activity	IEA	biological_process
GO:0019828	aspartic-type endopeptida se inhibitor activity	IDA	molecular_function
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0004866	endopeptidase inhibitor a ctivity	TAS	molecular_function
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular_function
GO:0004867	serine-type endopeptidase inhibitor activity	IDA	molecular_function
GO:0004869	cysteine-type endopeptida se inhibitor activity	IEA	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005615	extracellular space	TAS	cellular_component
GO:0006508	proteolysis	TAS	biological_process
GO:0007283	spermatogenesis	TAS	biological_process
GO:0010466	negative regulation of pe ptidase activity	IEA	biological_process
GO:0010951	negative regulation of en dopeptidase activity	IEA	biological_process
GO:0019828	aspartic-type endopeptida se inhibitor activity	IEA	molecular_function
GO:0019828	aspartic-type endopeptida se inhibitor activity	IDA	molecular_function
GO:0030414	peptidase inhibitor activ ity	IEA	molecular_function
GO:0030414	peptidase inhibitor activ ity	IEA	molecular_function
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0004866	endopeptidase inhibitor a ctivity	TAS	molecular_function
GO:0004867	serine-type endopeptidase inhibitor activity	IDA	molecular_function
GO:0005615	extracellular space	TAS	cellular_component
GO:0006508	proteolysis	TAS	biological_process
GO:0007283	spermatogenesis	TAS	biological_process
GO:0019828	aspartic-type endopeptida se inhibitor activity	IDA	molecular_function
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component

Diseases

Associated diseases	References
Endometriosis	PMID: 26512790
Adnexal malignancy	INFBASE26512790
Endometriosis	INFBASE26512790

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
26512790	Endometrio sis		Europea n cente rs (Ita ly, Por tugal, Latvia, and Sp ain)	1046 (981 healt hy patients dia gnosed with adn exal patology a nd selected 65 patients diagno sed with endome triosis)			Show abstract