LTB4R2
protein-codingleukotriene B4 receptor 2, the group of Leukotriene receptors
Gene summary
Predicted to enable G protein-coupled peptide receptor activity and leukotriene B4 receptor activity. Predicted to be involved in neuropeptide signaling pathway. Predicted to act upstream of or within keratinocyte migration and signal transduction. Located in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~6.3 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 LTB4R2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_019839.5. 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 | 1 | 1 | ||||
| missense | 79 | 1 | 80 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 79 | 0 | 3 | 82 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_062813.2 | 1 | MANE Select | |
| Ensembl | ENSP00000433290.1 | 1 | MANE Select | |
| RefSeq | NP_001158164.1 | 1 | Standard | |
| Ensembl | ENSP00000436668.2 | 1 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Calcium signaling pathway - Homo sapiens (human)
- Neuroactive ligand-receptor interaction - Homo sapiens (human)
- GPCRs, Other
- Signaling by GPCR
- Signal Transduction
Biological Process
- chemotaxis
- inflammatory response
- G protein-coupled receptor signaling pathway
- negative regulation of adenylate cyclase activity
- neuropeptide signaling pathway
Molecular Function
- leukotriene B4 receptor activity
- galanin receptor activity
- leukotriene receptor activity
- G protein-coupled peptide receptor activity
Cellular Component
- nucleoplasm
- plasma membrane
- integral component of plasma membrane
- membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000543919
- Coding exons
- 1
- Length
- 6320
- Individuals with no LoFs
- 125097
- Homozygous LoFs
- 4
- Heterozygous LoFs
- 534
- Defined
- 125635
- p
- 0.00214
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.296 | 252 | 239 | 1.05 | 0.0000161 | 2144 |
| Missense (PolyPhen) | 115 | 109.56 | 1.0497 | 1069 | ||
| Synonymous | -0.524 | 128 | 121 | 1.06 | 0.00000865 | 871 |
| Loss of Function | 0.767 | 6 | 8.40 | 0.714 | 5.00e-7 | 64 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00055 | 0.00049 | rare |
| Latino/Admixed American | 0.0011 | 0.0011 | notable |
| Ashkenazi Jewish | 0.0017 | 0.0017 | notable |
| East Asian | 0.014 | 0.013 | notable |
| Finnish | 0.00050 | 0.00042 | rare |
| European (Non-Finnish) | 0.0018 | 0.0017 | notable |
| South Asian | 0.00060 | 0.00056 | rare |
| Other | 0.0021 | 0.0020 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Low-affinity receptor for leukotrienes including leukotriene B4. Mediates chemotaxis of granulocytes and macrophages. The response is mediated via G-proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinities for the leukotrienes is LTB4 > 12-epi-LTB4 > LTB5 > LTB3.;
Intolerance Scores
- LoFtool
- 0.723
- RVIS EVS
- 0.31
- RVIS percentile EVS
- 72.38
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.657
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |