SELP

protein-coding

selectin P, the group of CD molecules|Sushi domain containing|Selectins|C-type lectin domain containing

Gene summary

This gene encodes a 140 kDa protein that is stored in the alpha-granules of platelets and Weibel-Palade bodies of endothelial cells. This protein redistributes to the plasma membrane during platelet activation and degranulation and mediates the interaction of activated endothelial cells or platelets with leukocytes. The membrane protein is a calcium-dependent receptor that binds to sialylated forms of Lewis blood group carbohydrate antigens on neutrophils and monocytes. Alternative splice variants may occur but are not well documented. [provided by RefSeq, Jul 2008]

Previous symbols:

GRMP

MANE transcript

NM_003005.4

Inheritance

—

ClinVar variants

P:1U:108B:18

Top phenotype

SELP-related disorder

gnomAD constraint

pLI —, LoF o/e 1.03

Max pathogenic AF

—

Genomic locus

chr1:169,588,849-169,630,193

External References & Databases

Ensembl (ENSG00000174175)

Transcript & Mutation Effects

hg38 • Region Span ~41.3 kb

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GenCC 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 SELP variants in ClinVar

5 Conditions Cataloged

not specifiedTotal: 100

not providedTotal: 15

SELP-related disorderTotal: 1

RECLASSIFIED - SELP POLYMORPHISMTotal: 1

Premature coronary artery atherosclerosisTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_003005.4. 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				3 clinvar	2 clinvar	5
missense			105 clinvar	9 clinvar	4 clinvar	118
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)		1 clinvar	1 clinvar			2
Total	0	1	108	12	6	127

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 63 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_003005.4	RefSeq	NP_002996.2	16	MANE Select
ENST00000263686.11	Ensembl	ENSP00000263686.5	16	MANE Select
ENST00000367786.6	Ensembl	ENSP00000356760.1	15	Standard
ENST00000367786.7	Ensembl	ENSP00000356760.1	15	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
selp	Danio rerio	Structure: intermediate cell mass of mesoderm Quality: decreased amount abnormal

Gene / Model

Organism

Observed Phenotype

selp

Danio rerio

Structure: intermediate cell mass of mesoderm

Quality: decreased amount

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Cell adhesion molecules (CAMs) - Homo sapiens (human)
Malaria - Homo sapiens (human)
Staphylococcus aureus infection - Homo sapiens (human)
Spinal Cord Injury
Human Complement System

Biological Process

platelet degranulation
positive regulation of leukocyte migration
inflammatory response
cell adhesion
heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules

Molecular Function

lipopolysaccharide binding
calcium ion binding
protein binding
heparin binding
sialic acid binding

Cellular Component

extracellular space
plasma membrane
integral component of plasma membrane
external side of plasma membrane
platelet dense granule membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000263686
Coding exons: 16
Length: 41345
Individuals with no LoFs: 125156
Homozygous LoFs: 4
Heterozygous LoFs: 588
Defined: 125748
p: 0.00236

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.256	474	459	1.03	0.0000239	5425
Missense (PolyPhen)		160	157.49	1.016		1910
Synonymous	-0.668	185	174	1.06	0.00000989	1564
Loss of Function	-0.215	47	45.4	1.03	0.00000209	544

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00092	0.00092	rare
Latino/Admixed American	0.00073	0.00072	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00045	0.00044	rare
Finnish	0.012	0.012	notable
European (Non-Finnish)	0.0016	0.0016	notable
South Asian	0.0040	0.0028	notable
Other	0.0026	0.0024	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Ca(2+)-dependent receptor for myeloid cells that binds to carbohydrates on neutrophils and monocytes. Mediates the interaction of activated endothelial cells or platelets with leukocytes. The ligand recognized is sialyl-Lewis X. Mediates rapid rolling of leukocyte rolling over vascular surfaces during the initial steps in inflammation through interaction with SELPLG. {ECO:0000269|PubMed:11081633, ECO:0000269|PubMed:28011641, ECO:0000269|PubMed:7585950}.;

Recessive Scores

pRec: 0.530

Intolerance Scores

LoFtool: 0.937
RVIS EVS: 1.01
RVIS percentile EVS: 90.81

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.537

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium