WFDC2

WAP four-disulfide core domain 2, the group of WAP four-disulfide core domain containing

Basic information

Region (hg38): 20:45469753-45481532

Links

ENSG00000101443 ∙ NCBI:10406 ∙ OMIM:617548 ∙ HGNC:15939 ∙ Uniprot:Q14508 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Bronchiectasis and nasal polyposis	AR	Allergy/Immunology/Infectious; Pulmonary	The condition involves chronic airway infections resulting in pulmonary and related sequelae, and diagnosis may allow interventions to prevent and treat infections as well as optimize pulmonary function; lung transplant has been described	Allergy/Immunology/Infectious; Obstetric; Pulmonary	38626355

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the WFDC2 gene.

• not_specified (22 variants)
• Bronchiectasis_and_nasal_polyposis (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WFDC2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006103.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense		1	21	2		24
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	1	21	2	0

Highest pathogenic variant AF is 0.00015487835

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WFDC2	protein_coding	protein_coding	ENST00000372676	3	11827

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.794	0.201	103484	0	1	103485	0.00000483

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0559	69	70.3	0.981	0.00000346	800
Missense in Polyphen		20	24.233	0.82533		295
Synonymous	0.286	27	29.0	0.932	0.00000136	240
Loss of Function	2.12	0	5.23	0.00	2.24e-7	60

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000113	0.0000113
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Broad range protease inhibitor. {ECO:0000269|PubMed:23139753}.

Recessive Scores

• pRec: 0.176

Intolerance Scores

• loftool: 0.397
• rvis_EVS: -0.08
• rvis_percentile_EVS: 47.79

Haploinsufficiency Scores

• pHI: 0.484
• hipred: N
• hipred_score: 0.203
• ghis: 0.570

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Medium	Low	Medium
Cancer	Low	Low	Low

Mouse Genome Informatics

• Gene name: Wfdc2

Gene ontology

• Biological process: proteolysis;spermatogenesis;negative regulation of endopeptidase activity
• Cellular component: extracellular space;extracellular exosome
• Molecular function: endopeptidase inhibitor activity;serine-type endopeptidase inhibitor activity;cysteine-type endopeptidase inhibitor activity;aspartic-type endopeptidase inhibitor activity