PLAUR
protein-codingplasminogen activator, urokinase receptor, the group of CD molecules|LY6/PLAUR domain containing
Gene summary
This gene encodes the receptor for urokinase plasminogen activator and, given its role in localizing and promoting plasmin formation, likely influences many normal and pathological processes related to cell-surface plasminogen activation and localized degradation of the extracellular matrix. It binds both the proprotein and mature forms of urokinase plasminogen activator and permits the activation of the receptor-bound pro-enzyme by plasmin. The protein lacks transmembrane or cytoplasmic domains and may be anchored to the plasma membrane by a glycosyl-phosphatidylinositol (GPI) moiety following cleavage of the nascent polypeptide near its carboxy-terminus. However, a soluble protein is also produced in some cell types. Alternative splicing results in multiple transcript variants encoding different isoforms. The proprotein experiences several post-translational cleavage reactions that have not yet been fully defined. [provided by RefSeq, Jul 2008]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~24.5 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 PLAUR variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_002659.4. 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 | 4 | 1 | 5 | |||
| missense | 55 | 7 | 62 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 58 | 11 | 1 | 70 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_002650.1 | 7 | MANE Select | |
| Ensembl | ENSP00000339328.3 | 7 | MANE Select | |
| RefSeq | NP_001005376.1 | 7 | Standard | |
| RefSeq | NP_001005377.1 | 6 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Complement and coagulation cascades - Homo sapiens (human)
- Proteoglycans in cancer - Homo sapiens (human)
- Primary Focal Segmental Glomerulosclerosis FSGS
- Human Complement System
- VEGFA-VEGFR2 Signaling Pathway
Biological Process
- positive regulation of protein phosphorylation
- chemotaxis
- signal transduction
- blood coagulation
- regulation of proteolysis
Molecular Function
- signaling receptor binding
- protein binding
- enzyme binding
- protein domain specific binding
- urokinase plasminogen activator receptor activity
Cellular Component
- extracellular region
- endoplasmic reticulum lumen
- endoplasmic reticulum membrane
- plasma membrane
- integral component of plasma membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000340093
- Coding exons
- 7
- Length
- 24453
- Individuals with no LoFs
- 125031
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 716
- Defined
- 125747
- p
- 0.00285
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.406 | 192 | 208 | 0.921 | 0.0000123 | 2186 |
| Missense (PolyPhen) | 78 | 102.45 | 0.76138 | 1051 | ||
| Synonymous | 0.923 | 71 | 81.6 | 0.870 | 0.00000466 | 656 |
| Loss of Function | 2.00 | 6 | 14.1 | 0.426 | 6.75e-7 | 162 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.012 | 0.012 | notable |
| Latino/Admixed American | 0.00067 | 0.00067 | rare |
| Ashkenazi Jewish | 0.0010 | 0.00099 | rare |
| East Asian | 0.0035 | 0.0034 | notable |
| Finnish | 0.0050 | 0.0049 | notable |
| European (Non-Finnish) | 0.0026 | 0.0026 | notable |
| South Asian | 0.000033 | 0.000033 | rare |
| Other | 0.0050 | 0.0049 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Acts as a receptor for urokinase plasminogen activator. Plays a role in localizing and promoting plasmin formation. Mediates the proteolysis-independent signal transduction activation effects of U-PA. It is subject to negative-feedback regulation by U-PA which cleaves it into an inactive form.;
Recessive Scores
- pRec
- 0.558
Intolerance Scores
- LoFtool
- 0.635
- RVIS EVS
- 1.4
- RVIS percentile EVS
- 94.7
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- S
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.820
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |