PECAM1
gene geneOn this page
Also known as CD31
Summary
PECAM1 (platelet and endothelial cell adhesion molecule 1, HGNC:8823) is a protein-coding gene on chromosome 17q23.3, encoding Platelet endothelial cell adhesion molecule (P16284). Cell adhesion molecule which is required for leukocyte transendothelial migration (TEM) under most inflammatory conditions.
The protein encoded by this gene is found on the surface of platelets, monocytes, neutrophils, and some types of T-cells, and makes up a large portion of endothelial cell intercellular junctions. The encoded protein is a member of the immunoglobulin superfamily and is likely involved in leukocyte migration, angiogenesis, and integrin activation.
Source: NCBI Gene 5175 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 3 total
- MANE Select transcript:
NM_000442
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8823 |
| Approved symbol | PECAM1 |
| Name | platelet and endothelial cell adhesion molecule 1 |
| Location | 17q23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CD31 |
| Ensembl gene | ENSG00000261371 |
| Ensembl biotype | protein_coding |
| OMIM | 173445 |
| Entrez | 5175 |
Gene structure
Transcript identifiers
Ensembl transcripts: 42 — 37 protein_coding, 5 protein_coding_CDS_not_defined
ENST00000561739, ENST00000563523, ENST00000563924, ENST00000564866, ENST00000566422, ENST00000566616, ENST00000568702, ENST00000569530, ENST00000569967, ENST00000904873, ENST00000904874, ENST00000904875, ENST00000904876, ENST00000904877, ENST00000904878, ENST00000904879, ENST00000904880, ENST00000904881, ENST00000904882, ENST00000904883, ENST00000904884, ENST00000904885, ENST00000904886, ENST00000904887, ENST00000904888, ENST00000904889, ENST00000904890, ENST00000904891, ENST00000904892, ENST00000951541, ENST00000951542, ENST00000951543, ENST00000951544, ENST00000951545, ENST00000951546, ENST00000951547, ENST00000951548, ENST00000951549, ENST00000951550, ENST00000951551, ENST00000951552, ENST00000951553
RefSeq mRNA: 1 — MANE Select: NM_000442
NM_000442
CCDS: CCDS74132
Canonical transcript exons
ENST00000563924 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002575878 | 64363149 | 64363397 |
| ENSE00002579775 | 64350380 | 64350433 |
| ENSE00002580899 | 64319415 | 64323845 |
| ENSE00002591954 | 64354933 | 64355040 |
| ENSE00002592904 | 64390489 | 64390515 |
| ENSE00002598474 | 64353491 | 64353518 |
| ENSE00002605204 | 64341634 | 64341690 |
| ENSE00002606452 | 64348260 | 64348322 |
| ENSE00002614676 | 64390602 | 64390860 |
| ENSE00002621159 | 64356111 | 64356398 |
| ENSE00002623164 | 64329700 | 64329722 |
| ENSE00002627278 | 64352390 | 64352463 |
| ENSE00002628742 | 64360140 | 64360415 |
| ENSE00003520017 | 64369750 | 64370025 |
| ENSE00003605763 | 64377824 | 64378117 |
| ENSE00003789668 | 64375051 | 64375356 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 99.92.
FANTOM5 (CAGE): breadth broad, TPM avg 56.3368 / max 3052.4492, expressed in 842 samples.
FANTOM5 promoters (16 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 208337 | 24.3398 | 453 |
| 208331 | 14.7190 | 532 |
| 208336 | 4.9143 | 329 |
| 208345 | 3.9932 | 346 |
| 208333 | 1.6702 | 267 |
| 208335 | 1.5378 | 245 |
| 208332 | 1.4127 | 342 |
| 208338 | 1.2872 | 374 |
| 208341 | 0.6353 | 84 |
| 208342 | 0.5514 | 118 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tendon of biceps brachii | UBERON:0008188 | 99.92 | gold quality |
| visceral pleura | UBERON:0002401 | 99.39 | gold quality |
| lower lobe of lung | UBERON:0008949 | 99.36 | gold quality |
| pericardium | UBERON:0002407 | 99.30 | gold quality |
| right lung | UBERON:0002167 | 99.25 | gold quality |
| pleura | UBERON:0000977 | 99.20 | gold quality |
| parietal pleura | UBERON:0002400 | 99.09 | gold quality |
| monocyte | CL:0000576 | 99.08 | gold quality |
| mononuclear cell | CL:0000842 | 99.03 | gold quality |
| leukocyte | CL:0000738 | 98.97 | gold quality |
| lung | UBERON:0002048 | 98.81 | gold quality |
| upper lobe of lung | UBERON:0008948 | 98.60 | gold quality |
| colonic epithelium | UBERON:0000397 | 98.59 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 98.53 | gold quality |
| calcaneal tendon | UBERON:0003701 | 98.41 | gold quality |
| skin of hip | UBERON:0001554 | 98.38 | gold quality |
| bone marrow cell | CL:0002092 | 98.26 | gold quality |
| placenta | UBERON:0001987 | 98.20 | gold quality |
| vena cava | UBERON:0004087 | 98.20 | gold quality |
| tendon | UBERON:0000043 | 98.10 | gold quality |
| gall bladder | UBERON:0002110 | 98.05 | gold quality |
| blood | UBERON:0000178 | 97.85 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 97.82 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 97.72 | gold quality |
| adipose tissue | UBERON:0001013 | 97.68 | gold quality |
| superficial temporal artery | UBERON:0001614 | 97.68 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 97.63 | gold quality |
| omental fat pad | UBERON:0010414 | 97.60 | gold quality |
| vermiform appendix | UBERON:0001154 | 97.59 | gold quality |
| peritoneum | UBERON:0002358 | 97.58 | gold quality |
Single-cell (SCXA)
Detected in 36 experiment(s), a significant marker in 35.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9543 | yes | 3440.76 |
| E-MTAB-5061 | yes | 2827.83 |
| E-GEOD-83139 | yes | 2822.52 |
| E-HCAD-15 | yes | 2498.32 |
| E-ANND-2 | yes | 1883.47 |
| E-CURD-88 | yes | 1700.89 |
| E-MTAB-10662 | yes | 1407.17 |
| E-CURD-126 | yes | 1336.02 |
| E-HCAD-23 | yes | 1303.59 |
| E-HCAD-31 | yes | 1259.14 |
| E-MTAB-6701 | yes | 1156.09 |
| E-MTAB-8142 | yes | 1145.88 |
| E-MTAB-8221 | yes | 952.67 |
| E-CURD-114 | yes | 940.72 |
| E-MTAB-8410 | yes | 930.70 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CEBPG, EGR1, ETS1, FOXM1, GATA1, GATA2, HIF1A, IKZF1, NFKB1, NFKB, POU2F1, RELA, SP1, TFAP2A, TRPS1, YY1
miRNA regulators (miRDB)
119 targeting PECAM1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-8075 | 99.97 | 67.20 | 962 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-302A-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302B-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302C-3P | 99.89 | 71.20 | 1778 |
| HSA-MIR-302D-3P | 99.89 | 71.25 | 1777 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-383-3P | 99.85 | 65.84 | 1359 |
| HSA-MIR-520E-3P | 99.84 | 70.55 | 1698 |
| HSA-MIR-373-3P | 99.84 | 70.68 | 1668 |
| HSA-MIR-372-3P | 99.83 | 70.58 | 1691 |
| HSA-MIR-520A-3P | 99.83 | 70.59 | 1687 |
| HSA-MIR-520B-3P | 99.83 | 70.56 | 1699 |
| HSA-MIR-520C-3P | 99.83 | 70.56 | 1699 |
Literature-anchored findings (GeneRIF, showing 40)
- Premature labor is associated with up-regulation of adhesion molecules in the lower uterine segment. (PMID:11776680)
- PECAM-1 (CD31) regulates a hydrogen peroxide-activated nonselective cation channel in endothelial cells. (PMID:11927609)
- data provide evidence of a role for PECAM-1 in human tumor angiogenesis and suggest PECAM-1 participates in adhesive and/or signaling phenomena required for the motility and organization of endothelial cells (PMID:11940533)
- prevents phagocyte ingestion of closely apposed viable cells by transmitting ‘detachment’ signals, and which changes function on apoptosis, promoting tethering of dying cells to phagocytes (PMID:12110892)
- No allelic associations have been found between multiple sclerosis and the CA microsatellite marker in the promoter region of the PECAM1 gene in Belgian study populations. (PMID:12127674)
- expression in uterine leiomyoma (PMID:12215337)
- hyperinsulinaemia could accelerate atherosclerosis by directly enhancing neutrophil transendothelial migration through increasing endothelial PECAM-1 expression via mitogen-activated protein kinase activation (PMID:12378388)
- During transmigration of neutrophils through umbilical vein endothelium, PECAM1 junctions opened to surround the periphery of a transmigrating neutrophil. (PMID:12393634)
- PECAM-1 involvement through Akt/PKB activation in starvation-induced transendothelial migration of CD34+CD14+ circulating precursors (PMID:12393747)
- alternatively spliced PECAM-1 isoforms in hematopoietic cells and platelets may have roles in hematopoiesis and transendothelial migration (PMID:12397602)
- Human PECAM-1 undergoes alternative splicing, generating multiple isoforms in vascular beds of various tissues (PMID:12433657)
- mechanisms of PECAM-1-dependent neutrophil transmigration (PMID:12468430)
- Idiopathic membranous nephropathy is characterized by complete or partial loss of PECAM-1 expression from glomerular capillaries and a parallel gain of PECAM-1 expression in the tubular epithelium. (PMID:12552497)
- Targeted recycling of PECAM1 from endothelial surface-connected compartments during diapedesis (PMID:12610627)
- Regulated expression of PECAM-1 isoforms during differentiation of blood cells suggests that alternative splicing of its mRNA is involved during hematopoiesis or inflammation. (PMID:12616538)
- PECAM-1, an adhesion molecule, affects cell proliferation via accumulation of transcriptionally active beta-catenin (PMID:12646189)
- PECAM-1 markedly suppressed Bax overexpression-induced cytochrome c release, caspase activation, and nuclear fragmentation in human cells transfected with PECAM1. (PMID:12649141)
- CD31 expression reverts the undifferentiated morphology and aggressive behavior of MDA-MB-231 cells, indicating its active role in the morphogenesis of breast ductal in situ carcinomas (PMID:12651608)
- Induction of adhesion molecule CD31, a useful nonlysosomal marker of macrophages and their neoplastic counterparts, may contribute to cell migration capability in Langerhans-cell histiocytosis patients. (PMID:12653580)
- Human Schlemm’s canal cells express the endothelial adherens proteins, VE-cadherin and PECAM-1. (PMID:12658549)
- role in modulation of integrin-mediated cell adhesion, transendothelial migration, angiogenesis, apoptosis, cell migration, negative regulation of immune cell signalling, autoimmunity, macrophage phagocytosis, IgE-mediated anaphylaxis and thrombosis (PMID:12681475)
- Review. The complex cytoplasmic domain is the focus: its structure, posttranslational modifications, & binding partners. PECAM1 is a cellular activation inhibitor via PTK-dependent signaling pathways, an integrin activator & a suppressor of apoptosis. (PMID:12689916)
- platelet endothelial cell adhesion molecule-1 (PECAM-1) gene is responsive to shear stress in vitro and that decreased PECAM-1 gene expression in 53A carriers may influence reduced progression of vessel stenosis in patients with coronary artery disease. (PMID:12732396)
- PECAM-1 has a role in inhibiting low density lipoprotein-induced signaling in platelets (PMID:12775720)
- PECAM-1 co-localized with moesin at the cell periphery and in filopodia of glass-activated platelets; moesin may play a role in platelet adhesion, linking PECAM-1 with the actin cytoskeleton (PMID:12850829)
- role for PECAM-1 as a sensor of oxidative stress, perhaps most importantly during the process of inflammation. (PMID:12893640)
- PECAM-1 and Fc gamma RIIa are colocalized on the platelet membrane and PECAM-1 down-regulates Fc gamma RIIa-mediated platelet responses. (PMID:12893767)
- infection with Kaposi’s sarcoma-associated herpesvirus leads to the downregulation of MHC class I, CD31 (PE-CAM), and CD54 (ICAM-I) (PMID:12915579)
- PECAM-1 participates in maintenance of adherens junction integrity and permeability, organization of the intermediate filament cytoskeleton, regulation of catenin localization and transcriptional activities [Review]. (PMID:14519385)
- CD31-CD31 bonds act as robust sensors which can guide neutrophil migration, and also modify its velocity. (PMID:14566092)
- elucidating the mechanisms of PECAM-1 function in autoimmune disorders could facilitate development of novel therapeutics–REVIEW (PMID:14754395)
- Marked expression of CD31 (P = 0.024), CD105 (P = 0.001), and Tie-2/Tek (P = 0.01) also correlated with higher risk of metastases in node-negative patients. (PMID:14991534)
- CD31 was mainly reactive with vascular endothelial cells and platelets.Its expression on these high endothelial cells suggest that it participate in trafficking of leukocytes,especially lymphocytes to the omentum. (PMID:15048167)
- CD31 might play a critical role in the ontogeny and physiology of B-lymphocytes (PMID:15065759)
- results suggest that a highly charged cluster of amino acids in the PECAM-1 cytoplasmic domain directly interacts with calmodulin and this novel interaction appears to regulate cleavage of PECAM-1 (PMID:15196923)
- These findings suggest that mechanosensitive PECAM-1 may lie downstream of a primary mechanosensor that activates a tyrosine kinase. (PMID:15249199)
- In summary, we have identified a novel PECAM-1 transcript (Deltaexon 7) and shown that the 5th (Ig)-like domain of PECAM-1 plays a role in monocyte TEM and Ca(2+) homeostasis. (PMID:15249221)
- frequency of the Gly670Arg polymorphism was significantly higher in patients with myocardial infart (58.9% vs. 48.3%) (PMID:15265022)
- PECAM-1 cleavage under high shear stress is closely related to the activation of calpain and the process of platelet-derived microparticles formation mediated by the GPIb-VWF interaction. (PMID:15550032)
- Up-regulation of endothelial PECAM-1 following radiation exposure is persistent, and PECAM-1 plays a key role in platelet adhesion/aggregation on irradiated endothelial cells. (PMID:15550034)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pecam1a | ENSDARG00000060263 |
| danio_rerio | pecam1b | ENSDARG00000103020 |
| mus_musculus | Pecam1 | ENSMUSG00000020717 |
| rattus_norvegicus | Pecam1 | ENSRNOG00000066008 |
Paralogs (17): FCGR2B (ENSG00000072694), FCRLA (ENSG00000132185), FCRL2 (ENSG00000132704), FCGR2A (ENSG00000143226), FCRL5 (ENSG00000143297), FCGR1A (ENSG00000150337), FCRL3 (ENSG00000160856), FCRLB (ENSG00000162746), FCGR3B (ENSG00000162747), FCRL4 (ENSG00000163518), FCRL1 (ENSG00000163534), FCER1A (ENSG00000179639), FCRL6 (ENSG00000181036), C17orf99 (ENSG00000187997), FCGR3A (ENSG00000203747), FCGR2C (ENSG00000244682), MILR1 (ENSG00000271605)
Protein
Protein identifiers
Platelet endothelial cell adhesion molecule — P16284 (reviewed: P16284)
Alternative names: EndoCAM, GPIIA’, PECA1
All UniProt accessions (4): A0A075B727, A0A075B728, A0A075B737, P16284
UniProt curated annotations — full annotation on UniProt →
Function. Cell adhesion molecule which is required for leukocyte transendothelial migration (TEM) under most inflammatory conditions. 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. Trans-homophilic interaction may play a role in endothelial cell-cell adhesion via cell junctions. Heterophilic interaction with CD177 plays a role in transendothelial migration of neutrophils. Homophilic ligation of PECAM1 prevents macrophage-mediated phagocytosis of neighboring viable leukocytes by transmitting a detachment signal. 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. Modulates bradykinin receptor BDKRB2 activation. Regulates bradykinin- and hyperosmotic shock-induced ERK1/2 activation in endothelial cells. Induces susceptibility to atherosclerosis. Does not protect against apoptosis.
Subunit / interactions. Trans-homodimer (via Ig-like C2-type 1 and Ig-like C2-type 2 domains); trans-homodimerization is required for cell-cell interaction. Forms a complex with BDKRB2 and GNAQ. Interacts with BDKRB2 and GNAQ. Interacts with PTPN11; Tyr-713 is critical for PTPN11 recruitment. Interacts with FER. Interacts (via Ig-like C2-type domain 6) with CD177; the interaction is Ca(2+)-dependent; the interaction is direct.
Subcellular location. Cell membrane Cell membrane. Membrane raft. Cell junction Cell junction.
Tissue specificity. Expressed on platelets and leukocytes and is primarily concentrated at the borders between endothelial cells. Expressed in human umbilical vein endothelial cells (HUVECs) (at protein level). Expressed on neutrophils (at protein level). Isoform Long predominates in all tissues examined. Isoform Delta12 is detected only in trachea. Isoform Delta14-15 is only detected in lung. Isoform Delta14 is detected in all tissues examined with the strongest expression in heart. Isoform Delta15 is expressed in brain, testis, ovary, cell surface of platelets, human umbilical vein endothelial cells (HUVECs), Jurkat T-cell leukemia, human erythroleukemia (HEL) and U-937 histiocytic lymphoma cell lines (at protein level).
Post-translational modifications. Phosphorylated on Ser and Tyr residues after cellular activation by src kinases. Upon activation, phosphorylated on Ser-729 which probably initiates the dissociation of the membrane-interaction segment (residues 709-729) from the cell membrane allowing the sequential phosphorylation of Tyr-713 and Tyr-690. Constitutively phosphorylated on Ser-734 in resting platelets. Phosphorylated on tyrosine residues by FER and FES in response to FCER1 activation. In endothelial cells Fyn mediates mechanical-force (stretch or pull) induced tyrosine phosphorylation. Palmitoylation by ZDHHC21 is necessary for cell surface expression in endothelial cells and enrichment in membrane rafts.
Domain organisation. The Ig-like C2-type domains 2 and 3 contribute to formation of the complex with BDKRB2 and in regulation of its activity.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P16284-1 | Long | yes |
| P16284-2 | Delta12 | |
| P16284-3 | Delta13 | |
| P16284-4 | Delta14 | |
| P16284-5 | Delta14-15 | |
| P16284-6 | Delta15 |
RefSeq proteins (1): NP_000433* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR040878 | IL-40-like_Ig | Domain |
| IPR050488 | Ig_Fc_receptor | Family |
Pfam: PF13895, PF13927, PF17736
UniProt features (86 total): strand 17, mutagenesis site 11, glycosylation site 9, domain 6, disulfide bond 6, splice variant 6, sequence conflict 6, sequence variant 5, modified residue 4, region of interest 3, short sequence motif 2, compositionally biased region 2, topological domain 2, helix 2, signal peptide 1, chain 1, lipid moiety-binding region 1, transmembrane region 1, turn 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5C14 | X-RAY DIFFRACTION | 2.8 |
| 5GNI | X-RAY DIFFRACTION | 3.01 |
| 2KY5 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P16284-F1 | 80.55 | 0.57 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (5): 690, 713, 729, 734, 622
Disulfide bonds (6): 57–109, 152–206, 256–304, 347–386, 431–476, 523–572
Glycosylation sites (9): 52, 84, 151, 301, 320, 344, 356, 453, 551
Mutagenesis-validated functional residues (11):
| Position | Phenotype |
|---|---|
| 52 | probable loss of n-glycosylation. no effect on homophilic cell adhesion; when associated with q-84 and q-151. |
| 74 | reduced homophilic cell adhesion; when associated with e-112; e-188 and e-190. |
| 84 | probable loss of n-glycosylation. no effect on homophilic cell adhesion; when associated with q-52 and q-151. |
| 89 | lacks homophilic binding ability and is distributed over the entire plasma membrane. |
| 112 | reduced homophilic cell adhesion; when associated with e-74; e-188 and e-190. |
| 151 | probable loss of n-glycosylation. no effect on homophilic cell adhesion; when associated with q-52 and q-84. |
| 188 | reduced homophilic cell adhesion; when associated with e-74; e-112 and e-190. |
| 190 | reduced homophilic cell adhesion; when associated with e-74; e-112 and e-188. |
| 622 | 6-fold decrease in association with membrane microdomains. |
| 690 | no effect on tyr-713 phosphorylation. inhibits targeted recycling of pecam1 from the lateral border recycling compartmen |
| 713 | loss of tyr-690 phosphorylation. does not inhibit targeted recycling of pecam1 from the lateral border recycling compart |
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-114608 | Platelet degranulation |
| R-HSA-202733 | Cell surface interactions at the vascular wall |
| R-HSA-210990 | PECAM1 interactions |
| R-HSA-216083 | Integrin cell surface interactions |
| R-HSA-432142 | Platelet sensitization by LDL |
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-9856530 | High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells |
MSigDB gene sets: 463 (showing top):
GOBP_ENDOTHELIAL_CELL_DEVELOPMENT, MODULE_52, GOBP_EPITHELIUM_DEVELOPMENT, HORIUCHI_WTAP_TARGETS_DN, ZHAN_LATE_DIFFERENTIATION_GENES_UP, WALLACE_PROSTATE_CANCER_RACE_UP, REACTOME_INNATE_IMMUNE_SYSTEM, MCLACHLAN_DENTAL_CARIES_UP, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_EPITHELIAL_CELL_DEVELOPMENT, GOCC_SECRETORY_GRANULE, GOBP_CELLULAR_RESPONSE_TO_EXTERNAL_STIMULUS, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, MODULE_45
GO Biological Process (35): angiogenesis (GO:0001525), endothelial cell morphogenesis (GO:0001886), phagocytosis (GO:0006909), immune response (GO:0006955), homophilic cell-cell adhesion (GO:0007156), leukocyte cell-cell adhesion (GO:0007159), signal transduction (GO:0007165), cell surface receptor signaling pathway (GO:0007166), Rho protein signal transduction (GO:0007266), cell recognition (GO:0008037), positive regulation of cell migration (GO:0030335), maintenance of blood-brain barrier (GO:0035633), monocyte extravasation (GO:0035696), wound healing (GO:0042060), vasodilation (GO:0042311), positive regulation of MAPK cascade (GO:0043410), endothelial cell migration (GO:0043542), diapedesis (GO:0050904), detection of mechanical stimulus (GO:0050982), positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051897), establishment of endothelial barrier (GO:0061028), bicellular tight junction assembly (GO:0070830), cellular response to mechanical stimulus (GO:0071260), glomerular endothelium development (GO:0072011), neutrophil extravasation (GO:0072672), endothelial cell-matrix adhesion (GO:0090673), cell-cell adhesion (GO:0098609), obsolete cell-cell adhesion via plasma-membrane adhesion molecules (GO:0098742), positive regulation of protein localization to cell-cell junction (GO:0150107), positive regulation of intracellular signal transduction (GO:1902533), blood vessel development (GO:0001568), endothelial cell development (GO:0001885), cell adhesion (GO:0007155), cell migration (GO:0016477), regulation of cell migration (GO:0030334)
GO Molecular Function (3): transmembrane signaling receptor activity (GO:0004888), protein homodimerization activity (GO:0042803), protein binding (GO:0005515)
GO Cellular Component (18): obsolete extracellular space (GO:0005615), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), plasma membrane (GO:0005886), cell-cell junction (GO:0005911), external side of plasma membrane (GO:0009897), smooth muscle contractile fiber (GO:0030485), secretory granule membrane (GO:0030667), platelet alpha granule membrane (GO:0031092), protein-containing complex (GO:0032991), cell-cell contact zone (GO:0044291), membrane raft (GO:0045121), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), membrane (GO:0016020), anchoring junction (GO:0070161), cell periphery (GO:0071944)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| Response to elevated platelet cytosolic Ca2+ | 1 |
| Hemostasis | 1 |
| Cell surface interactions at the vascular wall | 1 |
| Extracellular matrix organization | 1 |
| Platelet homeostasis | 1 |
| Innate Immune System | 1 |
| Response of endothelial cells to shear stress | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| cell-cell adhesion | 2 |
| cellular process | 2 |
| cell migration | 2 |
| cellular extravasation | 2 |
| positive regulation of intracellular signal transduction | 2 |
| nuclear lumen | 2 |
| blood vessel morphogenesis | 1 |
| anatomical structure formation involved in morphogenesis | 1 |
| endothelial cell development | 1 |
| epithelial cell morphogenesis | 1 |
| endocytosis | 1 |
| immune system process | 1 |
| response to stimulus | 1 |
| cell communication | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| signal transduction | 1 |
| small GTPase-mediated signal transduction | 1 |
| regulation of cell migration | 1 |
| positive regulation of cell motility | 1 |
| tissue homeostasis | 1 |
| mononuclear cell migration | 1 |
| myeloid leukocyte migration | 1 |
| response to wounding | 1 |
| tissue regeneration | 1 |
| blood vessel diameter maintenance | 1 |
| MAPK cascade | 1 |
| regulation of MAPK cascade | 1 |
| leukocyte migration | 1 |
| detection of external stimulus | 1 |
| detection of abiotic stimulus | 1 |
| response to mechanical stimulus | 1 |
| phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 |
| regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 |
| signaling receptor activity | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| binding | 1 |
Protein interactions and networks
STRING
5682 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PECAM1 | KDR | P35968 | 999 |
| PECAM1 | CDH5 | P33151 | 999 |
| PECAM1 | CDH17 | Q12864 | 995 |
| PECAM1 | CD38 | P28907 | 992 |
| PECAM1 | CD177 | Q8N6Q3 | 986 |
| PECAM1 | PTPN11 | Q06124 | 973 |
| PECAM1 | CTNNB1 | P35222 | 964 |
| PECAM1 | SELE | P16111 | 954 |
| PECAM1 | CD44 | P16070 | 946 |
| PECAM1 | FLT4 | P35916 | 938 |
| PECAM1 | F11R | Q9Y624 | 917 |
| PECAM1 | CD34 | P28906 | 908 |
| PECAM1 | PTPRC | P08575 | 889 |
| PECAM1 | VWF | P04275 | 885 |
| PECAM1 | ENG | P17813 | 884 |
IntAct
281 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PECAM1 | LGALS1 | psi-mi:“MI:0915”(physical association) | 0.680 |
| LGALS1 | PECAM1 | psi-mi:“MI:0915”(physical association) | 0.680 |
| JUP | PECAM1 | psi-mi:“MI:0915”(physical association) | 0.610 |
| PECAM1 | JUP | psi-mi:“MI:0914”(association) | 0.610 |
| PECAM1 | JUP | psi-mi:“MI:0915”(physical association) | 0.610 |
| SRC | PECAM1 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| AK2 | PECAM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BOK | PECAM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRPL49 | PECAM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CAMK2A | PECAM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AP1S1 | PECAM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DNASE1L1 | PECAM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DXO | PECAM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EYA3 | PECAM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FANCG | PECAM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GFAP | PECAM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| IDH1 | PECAM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STT3A | PECAM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LASP1 | PECAM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NEFL | PECAM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CNOT3 | PECAM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PECAM1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| RPL37A | PECAM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SKIL | PECAM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (45): CTNNB1 (Co-localization), SRC (Affinity Capture-Western), PPP2R1A (Affinity Capture-Western), LGALS1 (Affinity Capture-MS), PECAM1 (Reconstituted Complex), PTPN11 (Reconstituted Complex), PTPN11 (Affinity Capture-Western), PIK3CG (Affinity Capture-Western), XRCC6 (Two-hybrid), PECAM1 (Affinity Capture-Western), PECAM1 (Affinity Capture-Western), PECAM1 (Affinity Capture-Western), PECAM1 (Affinity Capture-Western), PECAM1 (Affinity Capture-Western), CTNNB1 (Affinity Capture-Western)
ESM2 similar proteins: B7Z8K6, O02757, O35112, O46634, O46651, O70535, O95727, P01730, P01848, P01849, P01853, P01882, P03985, P03986, P06334, P06335, P06729, P0CF51, P0DSE1, P0DTU3, P10300, P16003, P16004, P16284, P20489, P23088, P23735, P31042, P31043, P42069, P42071, P42081, P42082, P42292, P42702, P46630, P51866, P79184, P79185, P97710
Diamond homologs: P16284, P51866, Q08481, Q3SWT0, Q95242
SIGNOR signaling
8 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NUP98-HOXA9 | “down-regulates quantity by repression” | PECAM1 | “transcriptional regulation” |
| FER | “up-regulates activity” | PECAM1 | phosphorylation |
| FES | “up-regulates activity” | PECAM1 | phosphorylation |
| PECAM1 | “up-regulates activity” | CD38 | binding |
| CSK | “up-regulates activity” | PECAM1 | phosphorylation |
| LCK | “up-regulates activity” | PECAM1 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
3 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
4902 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:64356323:C:G | C523S | 0.997 |
| 17:64356324:A:T | C523S | 0.997 |
| 17:64369950:C:G | C256S | 0.997 |
| 17:64369951:A:G | C256R | 0.997 |
| 17:64369951:A:T | C256S | 0.997 |
| 17:64375287:C:G | C152S | 0.997 |
| 17:64375288:A:T | C152S | 0.997 |
| 17:64377883:C:G | C109S | 0.997 |
| 17:64377884:A:T | C109S | 0.997 |
| 17:64377890:A:C | Y107D | 0.997 |
| 17:64356324:A:G | C523R | 0.996 |
| 17:64363208:C:G | C386S | 0.996 |
| 17:64363209:A:T | C386S | 0.996 |
| 17:64369806:C:G | C304S | 0.996 |
| 17:64369807:A:T | C304S | 0.996 |
| 17:64375125:C:G | C206S | 0.996 |
| 17:64375126:A:T | C206S | 0.996 |
| 17:64377884:A:G | C109R | 0.996 |
| 17:64356176:C:G | C572S | 0.995 |
| 17:64356177:A:T | C572S | 0.995 |
| 17:64369807:A:G | C304R | 0.995 |
| 17:64375126:A:G | C206R | 0.995 |
| 17:64375288:A:G | C152R | 0.995 |
| 17:64378039:C:G | C57S | 0.995 |
| 17:64378040:A:T | C57S | 0.995 |
| 17:64360340:C:G | C431S | 0.994 |
| 17:64360341:A:T | C431S | 0.994 |
| 17:64363209:A:G | C386R | 0.994 |
| 17:64363325:C:G | C347S | 0.994 |
| 17:64363326:A:T | C347S | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000014480 (17:64374139 G>T), RS1000054284 (17:64363635 G>T), RS1000072926 (17:64357273 C>A,T), RS1000165663 (17:64340036 A>C), RS1000236503 (17:64384689 C>A,T), RS1000305438 (17:64340323 A>G), RS1000322072 (17:64363344 C>T), RS1000376255 (17:64328464 T>C), RS1000440894 (17:64378961 C>T), RS1000450556 (17:64334615 T>C), RS1000503089 (17:64338788 A>T), RS1000570018 (17:64383446 G>A,T), RS1000662921 (17:64376891 G>A,T), RS1000732123 (17:64378681 G>T), RS1000741256 (17:64333085 G>A)
Disease associations
OMIM: gene MIM:173445 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005195_119 | Coronary artery disease | 6.000000e-11 |
| GCST005196_223 | Coronary artery disease | 8.000000e-11 |
| GCST007096_2 | Pulse pressure | 8.000000e-07 |
| GCST007099_147 | Systolic blood pressure | 3.000000e-09 |
| GCST007269_128 | Pulse pressure | 3.000000e-08 |
| GCST010479_44 | Coronary artery disease | 1.000000e-08 |
| GCST010866_156 | Coronary artery disease | 1.000000e-14 |
| GCST010867_17 | Coronary artery disease | 3.000000e-09 |
| GCST011365_111 | Myocardial infarction | 2.000000e-07 |
| GCST012297_4 | Schizophrenia, bipolar disorder or major depressive disorder | 1.000000e-06 |
| GCST90000025_611 | Appendicular lean mass | 2.000000e-12 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005763 | pulse pressure measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0004980 | appendicular lean mass |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
86 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Arsenic Trioxide | increases expression, decreases reaction, increases reaction, affects cotreatment, decreases expression | 4 |
| (+)-JQ1 compound | decreases expression | 3 |
| titanium dioxide | decreases reaction, increases expression | 2 |
| Resveratrol | affects cotreatment, increases expression, decreases expression | 2 |
| Air Pollutants | increases expression, affects expression, increases abundance | 2 |
| Arsenic | affects expression, affects methylation | 2 |
| Aspirin | decreases expression | 2 |
| Curcumin | decreases reaction, increases expression, affects expression | 2 |
| Plant Extracts | affects cotreatment, increases expression, increases phosphorylation | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Tretinoin | affects cotreatment, increases expression | 2 |
| Particulate Matter | increases abundance, increases expression, decreases reaction | 2 |
| caulerpin | decreases expression | 1 |
| (6,7-dimethoxyquinolin-4-yl)(5-methoxy-2,2-dimethyl-2H-chromen-6-yl)methyl acetate | decreases expression | 1 |
| napabucasin | decreases expression | 1 |
| EGPI-1 compound | decreases expression | 1 |
| lasiocarpine | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | affects expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| methaneselenol | increases expression | 1 |
| nonylphenol | affects reaction, increases expression, decreases reaction | 1 |
| ochratoxin A | increases expression | 1 |
| andrographolide | decreases expression | 1 |
| lysophosphatidic acid | decreases reaction, increases expression, affects reaction | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, decreases expression | 1 |
| destruxin B | decreases expression | 1 |
| 3-methylquercetin | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B8ME | Abcam HCT 116 PECAM1 KO | Cancer cell line | Male |
| CVCL_B9PK | Abcam A-549 PECAM1 KO | Cancer cell line | Male |
| CVCL_D2GW | Abcam MCF-7 PECAM1 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.