SELE
protein-codingselectin E, the group of CD molecules|Sushi domain containing|Selectins|C-type lectin domain containing
Gene summary
The protein encoded by this gene is found in cytokine-stimulated endothelial cells and is thought to be responsible for the accumulation of blood leukocytes at sites of inflammation by mediating the adhesion of cells to the vascular lining. It exhibits structural features such as the presence of lectin- and EGF-like domains followed by short consensus repeat (SCR) domains that contain 6 conserved cysteine residues. These proteins are part of the selectin family of cell adhesion molecules. Adhesion molecules participate in the interaction between leukocytes and the endothelium and appear to be involved in the pathogenesis of atherosclerosis. [provided by RefSeq, Jul 2008]
- ELAM1
- ELAM
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~42.1 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 SELE variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_000450.2. 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 | 3 | 5 | ||
| missense | 74 | 5 | 2 | 81 | ||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 76 | 6 | 5 | 87 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_000441.2 | 12 | MANE Select | |
| Ensembl | ENSP00000331736.7 | 12 | MANE Select | |
| Ensembl | ENSP00000356748.1 | 10 | Standard | |
| Ensembl | ENSP00000356749.1 | 10 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Cell adhesion molecules (CAMs) - Homo sapiens (human)
- AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human)
- African trypanosomiasis - Homo sapiens (human)
- TNF signaling pathway - Homo sapiens (human)
- Malaria - Homo sapiens (human)
Biological Process
- positive regulation of receptor internalization
- leukocyte migration involved in inflammatory response
- inflammatory response
- heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules
- leukocyte cell-cell adhesion
Molecular Function
- transmembrane signaling receptor activity
- protein binding
- sialic acid binding
- phospholipase binding
- metal ion binding
Cellular Component
- extracellular space
- plasma membrane
- integral component of plasma membrane
- caveola
- clathrin-coated pit
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000333360
- Coding exons
- 12
- Length
- 42066
- Individuals with no LoFs
- 125676
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 62
- Defined
- 125738
- p
- 0.000247
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.125 | 333 | 327 | 1.02 | 0.0000160 | 4004 |
| Missense (PolyPhen) | 80 | 104.34 | 0.7667 | 1349 | ||
| Synonymous | 0.188 | 118 | 121 | 0.978 | 0.00000642 | 1123 |
| Loss of Function | 2.20 | 20 | 33.8 | 0.592 | 0.00000152 | 409 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00018 | 0.00018 | rare |
| Latino/Admixed American | 0.00014 | 0.00014 | rare |
| Ashkenazi Jewish | 0.00011 | 0.000099 | rare |
| East Asian | 0.00093 | 0.00092 | rare |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.00025 | 0.00025 | rare |
| South Asian | 0.00020 | 0.00020 | rare |
| Other | 0.00016 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Cell-surface glycoprotein having a role in immunoadhesion. Mediates in the adhesion of blood neutrophils in cytokine-activated endothelium through interaction with SELPLG/PSGL1. May have a role in capillary morphogenesis. {ECO:0000269|PubMed:1689848, ECO:0000269|PubMed:28011641}.;
Recessive Scores
- pRec
- 0.535
Intolerance Scores
- LoFtool
- 0.837
- RVIS EVS
- 1.33
- RVIS percentile EVS
- 94.22
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.691
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |