EPPIN

epididymal peptidase inhibitor, the group of WAP four-disulfide core domain containing

Basic information

Region (hg38): 20:45540626-45547752

Previous symbols: [ "SPINLW1" ]

Links

ENSG00000101448

∙ NCBI:57119 ∙ OMIM:609031 ∙ HGNC:15932 ∙ Uniprot:O95925 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EPPIN gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EPPIN	protein_coding	protein_coding	ENST00000555685	5	10767

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000740	0.763	125670	0	64	125734	0.000255

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0443	97	95.8	1.01	0.00000481	1196
Missense in Polyphen		33	26.552	1.2428		344
Synonymous	0.740	31	36.7	0.845	0.00000217	295
Loss of Function	1.10	8	12.1	0.660	7.11e-7	129

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00131	0.00131
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000106	0.000106
Middle Eastern	0.0000544	0.0000544
South Asian	0.000163	0.000163
Other	0.000491	0.000489

dbNSFP

Source: dbNSFP

Function: FUNCTION: Serine protease inhibitor that plays an essential role in male reproduction and fertility. Modulates the hydrolysis of SEMG1 by KLK3/PSA (a serine protease), provides antimicrobial protection for spermatozoa in the ejaculate coagulum, and binds SEMG1 thereby inhibiting sperm motility. {ECO:0000269|PubMed:15229136, ECO:0000269|PubMed:17644992}.;
Pathway: Antimicrobial peptides;Innate Immune System;Immune System (Consensus)

Recessive Scores

pRec: 0.0901

Intolerance Scores

loftool
rvis_EVS: 0.44
rvis_percentile_EVS: 77.45

Haploinsufficiency Scores

pHI
hipred: N
hipred_score: 0.146
ghis

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred
gene_indispensability_score

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Eppin
Phenotype

Gene ontology

Biological process: negative regulation of peptidase activity;negative regulation of endopeptidase activity;antimicrobial humoral response;defense response to bacterium;protein complex oligomerization;negative regulation of calcium ion import;negative regulation of flagellated sperm motility
Cellular component: extracellular space;cell surface;protein-containing complex;sperm plasma membrane
Molecular function: serine-type endopeptidase inhibitor activity;protein binding