CYP2J2
protein-codingcytochrome P450 family 2 subfamily J member 2, the group of Cytochrome P450 family 2
Gene summary
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is thought to be the predominant enzyme responsible for epoxidation of endogenous arachidonic acid in cardiac tissue. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~33.5 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 CYP2J2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_000775.4. 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 | 2 | 3 | |||
| missense | 66 | 2 | 68 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 67 | 3 | 2 | 72 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_000766.2 | 9 | MANE Select | |
| Ensembl | ENSP00000360247.3 | 9 | MANE Select | |
| Ensembl | ENSP00000498084.1 | 7 | Standard | |
| Ensembl | ENSP00000497807.1 | 8 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Inflammatory mediator regulation of TRP channels - Homo sapiens (human)
- Serotonergic synapse - Homo sapiens (human)
- Arachidonic acid metabolism - Homo sapiens (human)
- Linoleic acid metabolism - Homo sapiens (human)
- Ovarian steroidogenesis - Homo sapiens (human)
Biological Process
- organic acid metabolic process
- icosanoid metabolic process
- xenobiotic metabolic process
- regulation of heart contraction
- epoxygenase P450 pathway
Molecular Function
- monooxygenase activity
- iron ion binding
- arachidonic acid epoxygenase activity
- steroid hydroxylase activity
- arachidonic acid 14,15-epoxygenase activity
Cellular Component
- cytoplasm
- endoplasmic reticulum membrane
- organelle membrane
- intracellular membrane-bounded organelle
- extracellular exosome
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000371204
- Coding exons
- 9
- Length
- 33483
- Individuals with no LoFs
- 125549
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 199
- Defined
- 125748
- p
- 0.000792
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.136 | 270 | 276 | 0.977 | 0.0000141 | 3315 |
| Missense (PolyPhen) | 74 | 83.375 | 0.88756 | 1012 | ||
| Synonymous | 0.549 | 98 | 105 | 0.932 | 0.00000548 | 960 |
| Loss of Function | 0.0839 | 23 | 23.4 | 0.981 | 0.00000116 | 262 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00064 | 0.00062 | rare |
| Latino/Admixed American | 0.0012 | 0.0011 | notable |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.0044 | 0.0043 | notable |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00053 | 0.00052 | rare |
| South Asian | 0.00027 | 0.00026 | rare |
| Other | 0.00066 | 0.00065 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: This enzyme metabolizes arachidonic acid predominantly via a NADPH-dependent olefin epoxidation to all four regioisomeric cis-epoxyeicosatrienoic acids. One of the predominant enzymes responsible for the epoxidation of endogenous cardiac arachidonic acid pools.;
Recessive Scores
- pRec
- 0.233
Intolerance Scores
- LoFtool
- 0.648
- RVIS EVS
- -0.67
- RVIS percentile EVS
- 15.86
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.406
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |