OVCH2
protein-codingovochymase 2
Gene summary
Enables serine-type endopeptidase activity. Predicted to be involved in fertilization. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~17.0 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to OVCH2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_198185.7. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 73 | 6 | 79 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 74 | 6 | 0 | 80 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_937828.3 | 15 | MANE Select | |
| Ensembl | ENSP00000484497.2 | 15 | MANE Select | |
| RefSeq | NP_001354892.1 | 7 | Standard | |
| Ensembl | ENSP00000484790.1 | 15 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- proteolysis
Molecular Function
- serine-type endopeptidase activity
- metal ion binding
Cellular Component
- extracellular region
gnomAD Constraint
Source:
- Gene type
- polymorphic_pseudogene
- Transcript type
- protein_coding
- Transcript
- ENST00000454689
- Coding exons
- 15
- Length
- 17300
- Individuals with no LoFs
- 124557
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 74
- Defined
- 124631
- p
- 0.000297
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.0735 | 284 | 281 | 1.01 | 0.0000138 | 3635 |
| Missense (PolyPhen) | 79 | 90.337 | 0.8745 | 1186 | ||
| Synonymous | -1.04 | 112 | 98.9 | 1.13 | 0.00000506 | 1048 |
| Loss of Function | -2.97 | 43 | 26.5 | 1.62 | 0.00000117 | 347 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00026 | 0.00026 | rare |
| Latino/Admixed American | 0.00021 | 0.00020 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.0014 | 0.0013 | notable |
| Finnish | 0.000047 | 0.000046 | rare |
| European (Non-Finnish) | 0.00024 | 0.00023 | rare |
| South Asian | 0.00040 | 0.00036 | rare |
| Other | 0.00034 | 0.00033 | rare |
dbNSFP Gene Annotations
Source:
Essentials
- Essential (CRISPR2)
- N