PECAM1

platelet and endothelial cell adhesion molecule 1, the group of Immunoglobulin like domain containing|CD molecules|Ig-like cell adhesion molecule family

Basic information

Region (hg38): 17:64319415-64413776

Links

ENSG00000261371 ∙ NCBI:5175 ∙ OMIM:173445 ∙ HGNC:8823 ∙ Uniprot:P16284 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PECAM1 gene.

• Three Vessel Coronary Disease (3 variants)
• PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM (1 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PECAM1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense					3	3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	3

Variants in PECAM1

This is a list of pathogenic ClinVar variants found in the PECAM1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-64350416-T-C		Three Vessel Coronary Disease	Benign (-)
17-64356203-C-T		Three Vessel Coronary Disease	Benign (-)
17-64377836-C-G		PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM • Three Vessel Coronary Disease	Benign (Feb 01, 1996)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cell adhesion molecule which is required for leukocyte transendothelial migration (TEM) under most inflammatory conditions (PubMed:19342684, PubMed:17580308). Tyr-690 plays a critical role in TEM and is required for efficient trafficking of PECAM1 to and from the lateral border recycling compartment (LBRC) and is also essential for the LBRC membrane to be targeted around migrating leukocytes (PubMed:19342684). Trans-homophilic interaction may play a role in endothelial cell-cell adhesion via cell junctions (PubMed:27958302). Heterophilic interaction with CD177 plays a role in transendothelial migration of neutrophils (PubMed:17580308). Homophilic ligation of PECAM1 prevents macrophage-mediated phagocytosis of neighboring viable leukocytes by transmitting a detachment signal (PubMed:12110892). Promotes macrophage-mediated phagocytosis of apoptotic leukocytes by tethering them to the phagocytic cells; PECAM1-mediated detachment signal appears to be disabled in apoptotic leukocytes (PubMed:12110892). Modulates bradykinin receptor BDKRB2 activation (PubMed:18672896). Regulates bradykinin- and hyperosmotic shock- induced ERK1/2 activation in endothelial cells (PubMed:18672896). Induces susceptibility to atherosclerosis (By similarity). {ECO:0000250|UniProtKB:Q08481, ECO:0000269|PubMed:12110892, ECO:0000269|PubMed:17580308, ECO:0000269|PubMed:18672896, ECO:0000269|PubMed:19342684, ECO:0000269|PubMed:27958302}.
• Pathway: Cell adhesion molecules (CAMs) - Homo sapiens (human);Malaria - Homo sapiens (human);Fluid shear stress and atherosclerosis - Homo sapiens (human);Leukocyte transendothelial migration - Homo sapiens (human);Neutrophil degranulation;Integrin cell surface interactions;Extracellular matrix organization;TCR;Innate Immune System;Immune System;cell to cell adhesion signaling;Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Beta3 integrin cell surface interactions;PECAM1 interactions;Cell surface interactions at the vascular wall;Hemostasis;Platelet sensitization by LDL;Platelet homeostasis (Consensus)

Haploinsufficiency Scores

• pHI: 0.195
• ghis: 0.485

Essentials

• gene_indispensability_pred: E
• gene_indispensability_score: 0.824

Mouse Genome Informatics

• Gene name: Pecam1
• Phenotype: muscle phenotype; homeostasis/metabolism phenotype; cellular phenotype; digestive/alimentary phenotype; immune system phenotype; skeleton phenotype; renal/urinary system phenotype; liver/biliary system phenotype; respiratory system phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan)

Gene ontology

• Biological process: angiogenesis;endothelial cell morphogenesis;platelet degranulation;phagocytosis;homophilic cell adhesion via plasma membrane adhesion molecules;leukocyte cell-cell adhesion;signal transduction;Rho protein signal transduction;cell recognition;extracellular matrix organization;regulation of cell migration;wound healing;positive regulation of tyrosine phosphorylation of STAT protein;neutrophil degranulation;endothelial cell migration;leukocyte migration;diapedesis;glomerular endothelium development;neutrophil extravasation;endothelial cell-matrix adhesion;cell-cell adhesion via plasma-membrane adhesion molecules
• Cellular component: extracellular space;plasma membrane;external side of plasma membrane;integral component of membrane;smooth muscle contractile fiber;secretory granule membrane;platelet alpha granule membrane;cell-cell contact zone;membrane raft;extracellular exosome
• Molecular function: protein binding;protein homodimerization activity