LPAR5
protein-codinglysophosphatidic acid receptor 5, the group of Lysophosphatidic acid receptors
Gene summary
This gene encodes a member of the rhodopsin class of G protein-coupled transmembrane receptors. This protein transmits extracellular signals from lysophosphatidic acid to cells through heterotrimeric G proteins and mediates numerous cellular processes. Many G protein receptors serve as targets for pharmaceutical drugs. Transcript variants of this gene have been described.[provided by RefSeq, Dec 2008]
- GPR93
- GPR92
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~17.1 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 LPAR5 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_020400.6. 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 | 63 | 63 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 64 | 0 | 0 | 64 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_065133.1 | 1 | MANE Select | |
| Ensembl | ENSP00000327875.4 | 1 | MANE Select | |
| RefSeq | NP_001136433.1 | 1 | Standard | |
| Ensembl | ENSP00000393098.1 | 1 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- PI3K-Akt signaling pathway - Homo sapiens (human)
- Rap1 signaling pathway - Homo sapiens (human)
- Phospholipase D signaling pathway - Homo sapiens (human)
- Pathways in cancer - Homo sapiens (human)
- Focal Adhesion-PI3K-Akt-mTOR-signaling pathway
Biological Process
- G protein-coupled receptor signaling pathway
- biological_process
Molecular Function
- molecular_function
- G protein-coupled receptor activity
Cellular Component
- cellular_component
- plasma membrane
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000329858
- Coding exons
- 1
- Length
- 17613
- Individuals with no LoFs
- 125136
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 29
- Defined
- 125165
- p
- 0.000116
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.18 | 191 | 243 | 0.787 | 0.0000175 | 2279 |
| Missense (PolyPhen) | 67 | 80.337 | 0.83398 | 864 | ||
| Synonymous | 1.32 | 108 | 127 | 0.851 | 0.00000966 | 875 |
| Loss of Function | 1.46 | 3 | 7.22 | 0.416 | 4.23e-7 | 63 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000064 | 0.000062 | rare |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00011 | 0.00011 | rare |
| Finnish | 0.00010 | 0.000094 | rare |
| European (Non-Finnish) | 0.00017 | 0.00016 | rare |
| South Asian | 0.00013 | 0.00013 | rare |
| Other | 0.00038 | 0.00033 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities.;
Recessive Scores
- pRec
- 0.105
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.359
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |