PYROXD2
protein-codingpyridine nucleotide-disulphide oxidoreductase domain 2, the group of MicroRNA protein coding host genes
Gene summary
Predicted to enable oxidoreductase activity. Involved in mitochondrion organization. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Jul 2025]
- C10orf33
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~31.6 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AR
Disease ID:MONDO:0044970
Submitter: PanelApp Australia
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to PYROXD2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_032709.3. 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 | 1 | 1 | ||||
| missense | 113 | 5 | 118 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 4 | 4 | ||||
| Total | 0 | 0 | 117 | 6 | 0 | 123 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_116098.2 | 16 | MANE Select | |
| Ensembl | ENSP00000359607.4 | 16 | MANE Select | |
| Ensembl | ENSP00000514136.1 | 2 | Standard | |
| Ensembl | ENSP00000514136.1 | 2 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- oxidation-reduction process
Molecular Function
- protein binding
- oxidoreductase activity
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000370575
- Coding exons
- 16
- Length
- 31620
- Individuals with no LoFs
- 125294
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 453
- Defined
- 125748
- p
- 0.00181
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.253 | 352 | 339 | 1.04 | 0.0000187 | 3733 |
| Missense (PolyPhen) | 70 | 70.301 | 0.99572 | 731 | ||
| Synonymous | 0.114 | 142 | 144 | 0.988 | 0.00000885 | 1203 |
| Loss of Function | 0.824 | 26 | 30.9 | 0.840 | 0.00000148 | 346 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0071 | 0.0067 | notable |
| Latino/Admixed American | 0.0058 | 0.0056 | notable |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.0030 | 0.0030 | notable |
| Finnish | 0.000048 | 0.000046 | rare |
| European (Non-Finnish) | 0.00064 | 0.00063 | rare |
| South Asian | 0.00062 | 0.00062 | rare |
| Other | 0.00082 | 0.00081 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Probable oxidoreductase. {ECO:0000250}.;
Recessive Scores
- pRec
- 0.103
Intolerance Scores
- LoFtool
- 0.949
- RVIS EVS
- 0.89
- RVIS percentile EVS
- 89.29
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.297
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | High | Medium | High |
| Cancer | High | High | High |