WFDC2 WAP four-disulfide core domain 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WFDC2provided by HGNC
Official Full Name: WAP four-disulfide core domain 2provided by HGNC
Primary source: HGNC:HGNC:15939
See related: Ensembl:ENSG00000101443 MIM:617548; AllianceGenome:HGNC:15939
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HE4; WAP5; EDDM4; dJ461P17.6
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. 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]
Expression: Biased expression in salivary gland (RPKM 317.9), endometrium (RPKM 117.3) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.12

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (45469753..45481532)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (47205608..47217387)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (44098393..44110172)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HE4 as a serum biomarker for the diagnosis of pelvic masses: a prospective, multicenter study in 965 patients.
Title: HE4 as a serum biomarker for the diagnosis of pelvic masses: a prospective, multicenter study in 965 patients.
Can serum human epididymis protein 4 (HE4) support the decision to refer a patient with an ovarian mass to an oncology hospital?
Title: Can serum human epididymis protein 4 (HE4) support the decision to refer a patient with an ovarian mass to an oncology hospital?
HE4 is associated with clinical risk prognostic factors and survival outcome in primary fallopian tube carcinoma patients.
Title: HE4 is associated with clinical risk prognostic factors and survival outcome in primary fallopian tube carcinoma patients.
Serum HE4 is associated with clinical prognostic factors and survival outcome in female patients with primary peritoneal carcinoma.
Title: Serum HE4 is associated with clinical prognostic factors and survival outcome in female patients with primary peritoneal carcinoma.
Human epididymis protein 4 is associated with severity and poor prognosis of connective tissue disease-associated interstitial lung disease with usual interstitial pneumonia pattern.
Title: Human epididymis protein 4 is associated with severity and poor prognosis of connective tissue disease-associated interstitial lung disease with usual interstitial pneumonia pattern.
Human epididymis protein 4 aggravates airway inflammation and remodeling in chronic obstructive pulmonary disease.
Title: Human epididymis protein 4 aggravates airway inflammation and remodeling in chronic obstructive pulmonary disease.
A bioinformatic analysis of WFDC2 (HE4) expression in high grade serous ovarian cancer reveals tumor-specific changes in metabolic and extracellular matrix gene expression.
Title: A bioinformatic analysis of WFDC2 (HE4) expression in high grade serous ovarian cancer reveals tumor-specific changes in metabolic and extracellular matrix gene expression.
Application Value of Real-Time Ultrasonic Elastograph with Serum Human Epididymis Protein 4, Interleukin-33, and Carbohydrate Antigen 153 in Diagnosis of Early Cervical Cancer.
Title: Application Value of Real-Time Ultrasonic Elastograph with Serum Human Epididymis Protein 4, Interleukin-33, and Carbohydrate Antigen 153 in Diagnosis of Early Cervical Cancer.
Recurrence monitoring for ovarian cancer using a cell phone-integrated paper device to measure the ovarian cancer biomarker HE4/CRE ratio in urine.
Title: Recurrence monitoring for ovarian cancer using a cell phone-integrated paper device to measure the ovarian cancer biomarker HE4/CRE ratio in urine.
Serum HE4 and CA125 combined to predict and monitor recurrence of type II endometrial carcinoma.
Title: Serum HE4 and CA125 combined to predict and monitor recurrence of type II endometrial carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (203)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Voxelwise genome-wide association study (vGWAS). EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC30446 (e-PCR)
- UniSTS:50092

A008O33 (e-PCR)
- UniSTS:83409

Homology

Homologs of the WFDC2 gene: The WFDC2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 187 organisms have orthologs with human gene WFDC2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables aspartic-type endopeptidase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables cysteine-type endopeptidase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables endopeptidase inhibitor activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables serine-type endopeptidase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in antibacterial humoral response	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in innate immune response	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in negative regulation of endopeptidase activity	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	TAS Traceable Author Statement more info	PubMed
involved_in spermatogenesis	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: WAP four-disulfide core domain protein 2

Names: WAP domain containing protein HE4-V4; epididymal protein 4; epididymal secretory protein E4; epididymis secretory sperm binding protein; epididymis-specific, whey-acidic protein type, four-disulfide core; human epididymis protein 4; major epididymis-specific protein E4; putative protease inhibitor WAP5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_006103.4 → NP_006094.3 WAP four-disulfide core domain protein 2 precursor

See identical proteins and their annotated locations for NP_006094.3

Status: REVIEWED

Source sequence(s)

AL031663, BI759775, X63187

Consensus CDS

CCDS35501.1

UniProtKB/Swiss-Prot

Q14508, Q96KJ1

UniProtKB/TrEMBL

A0A384MTN6

Related

ENSP00000361761.3, ENST00000372676.8

Conserved Domains (2) summary

smart00217
Location:76 → 123

WAP; Four-disulfide core domains

pfam00095
Location:32 → 73

WAP; WAP-type (Whey Acidic Protein) 'four-disulfide core'

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

45469753..45481532

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

47205608..47217387

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_080733.1: Suppressed sequence

Description

NM_080733.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_080734.1: Suppressed sequence

Description

NM_080734.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_080735.1: Suppressed sequence

Description

NM_080735.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_080736.1: Suppressed sequence

Description

NM_080736.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.