PRXL2B
protein-codingperoxiredoxin like 2B
Gene summary
Predicted to enable prostaglandin F synthase activity and thioredoxin peroxidase activity. Predicted to be involved in prostaglandin biosynthetic process. Located in extracellular exosome and mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]
- C1orf93
- FAM213B
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~5.0 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 PRXL2B variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_152371.5. 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 | 6 | 6 | ||||
| missense | 31 | 2 | 33 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 34 | 8 | 0 | 42 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_689584.5 | 7 | MANE Select | |
| Ensembl | ENSP00000394405.4 | 7 | MANE Select | |
| RefSeq | NP_001182665.4 | 7 | Standard | |
| RefSeq | NP_001182666.4 | 7 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- prostaglandin biosynthetic process
- oxidation-reduction process
- cellular oxidant detoxification
Molecular Function
- antioxidant activity
- oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
- prostaglandin-F synthase activity
Cellular Component
- cytoplasm
- endoplasmic reticulum
- cytosol
- myelin sheath
- extracellular exosome
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000419916
- Coding exons
- 7
- Length
- 4979
- Individuals with no LoFs
- 125455
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 285
- Defined
- 125740
- p
- 0.00113
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.354 | 97 | 107 | 0.904 | 0.00000570 | 1421 |
| Missense (PolyPhen) | 30 | 35.274 | 0.85048 | 401 | ||
| Synonymous | 0.120 | 50 | 51.1 | 0.979 | 0.00000298 | 483 |
| Loss of Function | 0.426 | 8 | 9.41 | 0.850 | 4.02e-7 | 124 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.010 | 0.010 | notable |
| Latino/Admixed American | 0.00046 | 0.00046 | rare |
| Ashkenazi Jewish | 0.0032 | 0.0032 | notable |
| East Asian | 0.00011 | 0.00011 | rare |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.00053 | 0.00053 | rare |
| South Asian | 0.00024 | 0.00023 | rare |
| Other | 0.00065 | 0.00065 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Catalyzes the reduction of prostaglandin-ethanolamide H(2) (prostamide H(2)) to prostamide F(2alpha) with NADPH as proton donor. Also able to reduce prostaglandin H(2) to prostaglandin F(2alpha) (By similarity). {ECO:0000250}.;
Intolerance Scores
- RVIS EVS
- -0.01
- RVIS percentile EVS
- 53.19