SELPLG

Summary

SELPLG (selectin P ligand, HGNC:10722) is a protein-coding gene on chromosome 12q24.11, encoding P-selectin glycoprotein ligand 1 (Q14242). A SLe(x)-type proteoglycan, which through high affinity, calcium-dependent interactions with E-, P- and L-selectins, mediates rapid rolling of leukocytes over vascular surfaces during the initial steps in inflammation.

This gene encodes a glycoprotein that functions as a high affinity counter-receptor for the cell adhesion molecules P-, E- and L- selectin expressed on myeloid cells and stimulated T lymphocytes. As such, this protein plays a critical role in leukocyte trafficking during inflammation by tethering of leukocytes to activated platelets or endothelia expressing selectins. This protein requires two post-translational modifications, tyrosine sulfation and the addition of the sialyl Lewis x tetrasaccharide (sLex) to its O-linked glycans, for its high-affinity binding activity. Aberrant expression of this gene and polymorphisms in this gene are associated with defects in the innate and adaptive immune response. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 6404 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 73 total
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_003006

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10722
Approved symbol	SELPLG
Name	selectin P ligand
Location	12q24.11
Locus type	gene with protein product
Status	Approved
Aliases	PSGL-1, CD162
Ensembl gene	ENSG00000110876
Ensembl biotype	protein_coding
OMIM	600738
Entrez	6404

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000228463, ENST00000388962, ENST00000550948, ENST00000884614, ENST00000884615, ENST00000942795

RefSeq mRNA: 2 — MANE Select: NM_003006 NM_001206609, NM_003006

CCDS: CCDS31895, CCDS55881

Canonical transcript exons

ENST00000550948 — 2 exons

Exon	Start	End
ENSE00002370460	108633740	108633894
ENSE00002412834	108621895	108624312

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 99.06.

FANTOM5 (CAGE): breadth broad, TPM avg 27.1349 / max 751.8667, expressed in 629 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
133144	16.8007	582
133146	8.7738	558
133145	1.1284	309
133143	0.2010	77
133142	0.0969	61
133138	0.0871	49
133139	0.0469	17

Top tissues by expression

286 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	99.06	gold quality
blood	UBERON:0000178	98.45	gold quality
leukocyte	CL:0000738	97.25	gold quality
mononuclear cell	CL:0000842	97.08	gold quality
monocyte	CL:0000576	97.06	gold quality
spleen	UBERON:0002106	94.18	gold quality
lymph node	UBERON:0000029	93.55	gold quality
inferior vagus X ganglion	UBERON:0005363	92.26	gold quality
type B pancreatic cell	CL:0000169	92.24	gold quality
periodontal ligament	UBERON:0008266	91.77	gold quality
vermiform appendix	UBERON:0001154	91.29	gold quality
bone marrow cell	CL:0002092	90.40	gold quality
caecum	UBERON:0001153	89.80	gold quality
vena cava	UBERON:0004087	89.17	gold quality
bone marrow	UBERON:0002371	88.96	gold quality
right lung	UBERON:0002167	88.42	gold quality
upper lobe of left lung	UBERON:0008952	88.03	gold quality
subthalamic nucleus	UBERON:0001906	87.57	gold quality
upper lobe of lung	UBERON:0008948	87.32	gold quality
olfactory bulb	UBERON:0002264	87.13	gold quality
ventral tegmental area	UBERON:0002691	87.07	gold quality
gall bladder	UBERON:0002110	86.49	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	86.24	gold quality
bone element	UBERON:0001474	86.23	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.04	silver quality
spinal cord	UBERON:0002240	85.79	gold quality
parotid gland	UBERON:0001831	85.23	silver quality
dorsal plus ventral thalamus	UBERON:0001897	84.30	gold quality
heart right ventricle	UBERON:0002080	83.90	silver quality
lung	UBERON:0002048	83.33	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	20.16
E-MTAB-9801	yes	6.04
E-CURD-88	yes	4.71
E-CURD-112	yes	4.07
E-MTAB-7606	no	6159.87
E-CURD-120	no	40.15

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GLI2, NFATC1, NR1H3, TXK

miRNA regulators (miRDB)

37 targeting SELPLG, 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-6825-5P	99.96	69.81	3431
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-186-3P	99.51	66.24	1685
HSA-MIR-302B-5P	99.50	69.49	1857
HSA-MIR-302D-5P	99.50	69.34	1863
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-133A-3P	99.27	71.53	1270
HSA-MIR-133B	99.27	71.53	1270
HSA-MIR-4293	99.22	65.46	1263
HSA-MIR-6734-3P	99.15	66.27	1627
HSA-MIR-4796-3P	99.08	68.38	1681
HSA-MIR-6814-5P	99.03	66.68	1273
HSA-MIR-1843	98.97	66.07	838
HSA-MIR-4802-5P	98.97	66.26	833
HSA-MIR-6894-5P	98.70	63.78	809
HSA-MIR-7114-5P	98.51	67.87	1349
HSA-MIR-6873-5P	98.45	66.14	1417
HSA-MIR-6884-3P	98.05	65.32	750
HSA-MIR-4665-5P	97.91	67.69	1536
HSA-MIR-665	97.60	65.64	1781
HSA-MIR-4535	97.27	65.17	469
HSA-MIR-203B-5P	97.24	68.54	543
HSA-MIR-6718-5P	97.24	68.15	553
HSA-MIR-509-3-5P	97.21	67.74	1517
HSA-MIR-509-5P	97.21	67.90	1512

Literature-anchored findings (GeneRIF, showing 40)

• Comparison of PSGL-1 microbead and neutrophil rolling: microvillus elongation stabilizes P-selectin bond clusters (PMID:11916843)
• Human mast cell progenitors use alpha4-integrin, VCAM-1, and PSGL-1, E-selectin for adhesive interactions with human vascular endothelium under flow conditions (PMID:11929779)
• G-CSF down regulates PSGL-1 expression on the surface of neutrophils in humans (PMID:11961238)
• Attachment of the PSGL-1 cytoplasmic domain to the actin cytoskeleton is essential for leukocyte rolling on P-selectin. (PMID:12036880)
• Expression of cutaneous lymphocyte-associated antigen by CD8(+) T cells specific for herpes simplex virus type 2(cutaneous lymphocyte-associated antigen) (PMID:12189248)
• Binding of two anti-human (KPL1 and PL1) and two anti-mouse (4RA10 and 2PH1) PSGL-1 mAbs to synthetic peptides of N-terminus of human and mouse PSGL-1 was found to be independent of tyrosine sulfation. (PMID:12223514)
• The epitope recognized by the M-DC8 MAb is 6-sulfo LacNAc, a novel carbohydrate modification of the P selectin glycoprotein ligand 1 (PSGL-1) (PMID:12354382)
• increased PSGL-1 expression on granulocytes from allergic-asthmatic subjects resulted in increased leukocyte recruitment on P-selectin under flow conditions (PMID:12377939)
• PSGL-1 engagement induces tyrosine phosphorylation of Syk and SRE-dependent transcriptional activity. (PMID:12387735)
• Inhibitors of glycosylation alter HECA-452 expression on human cutaneous lymphocyte-associated antigen-positive T-cells and prevent T-cell tethering and rolling on selectins under shear stress. (PMID:12393521)
• Stimulation of eosinophils with eotaxin-2 converts PSGL-1-P-selectin-dependent stationary adhesion to CD18-mediated shear-resistant stable attachment. Blocking eosinophil-platelet interactions may combat thrombotic disorders in hypereosinophilia. (PMID:12529243)
• Anti-P-selectin glycoprotein ligand-1 (PSGL-1) antibodies dramatically block the recruitment of CD8+ cells in brain vessels of patients with multiple sclerosis (PMID:12595306)
• L-selectin binds with high affinity to the N-terminal region of PSGL-1 through cooperative interactions with three sulfated tyrosine residues and an appropriately positioned C2-O-sLex O-glycan. (PMID:12736247)
• atomic force microscopy and flow-chamber experiments show that increasing force first prolonged and then shortened the lifetimes of P-selectin complexes with P-selectin glycoprotein ligand-1 (PMID:12736689)
• Anaplasma phagocytophilum infected neutrophils showed reduced expression of P-selectin glycoprotein ligand 1 (PSGL-1, CD162) and L-selectin (CD62L) (PMID:12874338)
• results demonstrate that the PSGL-1 variable number of tandem repeat polymorphism is not a genetic risk factor for coronary heart disease (PMID:12879153)
• determination that PSGL-1 is an additional substrate for BACE1 (PMID:14507929)
• PSGL1 is not essential for E-selection promotion of growth inhibition and apoptosis of human and murine hematopoietic progenitor cells (PMID:14592840)
• PSGL-1, by mediating monocyte-platelet interactions, plays a major role in secondary monocyte tethering. (PMID:14615387)
• platelet-monocyte complex formation is mostly dependent on PSGL-1 (PMID:14678816)
• PSGL-1 and VLA-4 play an important role for leukocyte recruitment during intestinal inflammation. Therapeutic strategies designed to disrupt interactions mediated by PSGL-1 and/or VLA-4 may prove beneficial in treatment of chronic colitis. (PMID:15001428)
• core 2 beta1-6-N-glucosaminyltransferase and dimerization of P-selectin glycoprotein ligand-1 have roles in rolling on P-selectin (PMID:15026421)
• platelet P-selectin and microparticle PSGL-1 have roles in thrombus formation [review] (PMID:15059608)
• binding of E-selectin to PMNs in suspension also elicited coclustering of L-selectin and PSGL-1 that was signaled via mitogen-activated protein kinase. (PMID:15187162)
• The interaction of PSGL-1 with P-selectin (CD62P) mediates tethering, rolling, and weak adhesion of leukocytes (PMID:15217824)
• PSGL-1 interacts with CCL27 (CTACK/ILC/ESkine), a skin-associated chemokine that attracts skin-homing T lymphocytes (PMID:15466853)
• CLA and E-selectin are bound by T cells and have roles in skin inflammation [cutaneous lymphocyte-associated antigen, also called BE-2] (PMID:15488708)
• PG-M/versican binds to P-selectin glycoprotein ligand-1 and has a role in mediating leukocyte aggregation (PMID:15522894)
• Induced expression of cutaneous lymphocyte antigen on helper T cells determined a striking increase of rolling efficiency in inflamed brain venules. (PMID:15843584)
• immune response to alpha-streptococci may enhance expression on tonsillar T-cells in pustulosis palmaris et plantaris (PMID:15925831)
• A differential functional impact of N-glycosylation on C2GnT-1 and FucT-VII and disclose that a strongly reduced FucT-VII activity retains the ability to fucosylate PSGL-1 on the core2-based binding site(s) for the three selectins. (PMID:15926890)
• CLA is expressed in circulating mononuclear cells of patients with psoriasis (PMID:16024226)
• In conclusion, the C allele of the VNTR polymorphism in PSGL-1 is likely to be associated with PP-MS. (PMID:16039046)
• biophysical analysis of PSGL-1/P-selectin neutrophil adhesion (PMID:16100264)
• CD43 is a T-cell E-selectin ligand distinct from PSGL-1 which expands the role of CD43 in the regulation of T-cell trafficking. (PMID:16269612)
• Plasmacytoid dendritic cells are particularly potent inducers of cutaneous lymphocyte-associated antigen on HSV-reactive memeory CD4 T cells (PMID:16501095)
• 98% of CLA(+) effector memory T cells are resident in normal skin under resting conditions (PMID:16547281)
• rPSGL-Ig delays the aggregation process and increases the anti-aggregatory potency of GPIIb-IIIa antagonist (PMID:16633357)
• More than 50% of circulating CD4+CD25(high) regulatory T cells from both patients as well as healthy controls expressed cutaneous lymphocyte-associated antigen. (PMID:17181632)
• No significant association was found between PSGL-1 VNTR polymorphisms and in-stent restenosis. However, in patients with a family history of early CAD presence of PSGL-1 AB genotype might increase the risk of in-stent restenosis. (PMID:17221329)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Selplg	ENSMUSG00000048163
rattus_norvegicus	Selplg	ENSRNOG00000000699

Protein

Protein identifiers

P-selectin glycoprotein ligand 1 — Q14242 (reviewed: Q14242)

Alternative names: Selectin P ligand

All UniProt accessions (2): A0A0C4DFY0, Q14242

UniProt curated annotations — full annotation on UniProt →

Function. A SLe(x)-type proteoglycan, which through high affinity, calcium-dependent interactions with E-, P- and L-selectins, mediates rapid rolling of leukocytes over vascular surfaces during the initial steps in inflammation. Critical for the initial leukocyte capture. (Microbial infection) Acts as a receptor for enterovirus 71.

Subunit / interactions. Homodimer; disulfide-linked. Interaction with P-, E- and L-selectins, through their lectin/EGF domains, is required for promoting recruitment and rolling of leukocytes. These interactions require sialyl Lewis X glycan modification but there is a differing dependence for tyrosine sulfations. Sulfation on Tyr-51 of PSGL1 is most important for high affinity L-selectin/SELL binding while P-selectin/SELP requires sulfation on Tyr-48. E-selectin/SELE binds with much lower affinity and requires the sLe(x) epitope, but apparently not tyrosine sulfation. Dimerization appears not to be required for P-selectin/SELP binding. Interacts with SNX20. Interacts with MSN and SYK; mediates the activation of SYK by SELPLG. Interacts with HAVCR1. (Microbial infection) Interacts with enterovirus 71 capsid proteins. (Microbial infection) Interacts with Staphylococcus aureus proteins SSL5 and SSL11; these interactions prevent SELPLG-mediated neutrophil rolling.

Subcellular location. Membrane.

Tissue specificity. Expressed on neutrophils, monocytes and most lymphocytes.

Post-translational modifications. Displays complex, core-2, sialylated and fucosylated O-linked oligosaccharides, at least some of which appear to contain poly-N-acetyllactosamine with varying degrees of substitution. Mainly disialylated or neutral forms of the core-2 tetrasaccharide, Galbeta1–>4GlcNAcbeta1–>6(Galbeta1–>3)GalNAcOH. The GlcN:GalN ratio is approximately 2:1 and the Man:Fuc ratio 3:5. Contains about 14% fucose with alpha-1,3 linkage present in two forms: One species is a disialylated, monofucosylated glycan, and the other, a monosialylated, trifucosylated glycan with a polylactosamine backbone. The fucosylated forms carry the Lewis antigen and are important for interaction with selectins and for functioning in leukocyte rolling. The modification containing the sialyl Lewis X glycan is on Thr-57. No sulfated O-glycans. Some N-glycosylation. Sulfation, in conjunction with the SLe(x)-containing glycan, is necessary for P- and L-selectin binding. High affinity P-selectin binding has a preferred requirement for the isomer sulfated on both Tyr-48 and Tyr-51, whereas L-selectin binding requires predominantly sulfation on Tyr-51 with sulfation on Tyr-48 playing only a minor role. These sulfations play an important role in L- and P-selectin-mediated neutrophil recruitment, and leukocyte rolling.

Isoforms (2)

UniProt ID	Names	Canonical?
Q14242-1	1	yes
Q14242-2	2

RefSeq proteins (2): NP_001193538, NP_002997* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026195	PSGL-1	Family

UniProt features (55 total): repeat 12, mutagenesis site 8, modified residue 6, region of interest 5, sequence conflict 5, glycosylation site 4, sequence variant 4, compositionally biased region 2, topological domain 2, signal peptide 1, propeptide 1, chain 1, disulfide bond 1, splice variant 1, transmembrane region 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1G1S	X-RAY DIFFRACTION	1.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14242-F1	50.77	0.06

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 (6): 42, 46, 48, 51, 406, 409

Disulfide bonds (1): 320

Glycosylation sites (4): 57, 65, 111, 302

Mutagenesis-validated functional residues (8):

Position	Phenotype
44	no effect on l-selectin binding nor neutrophil rolling.
46–52	no sulfation. almost complete loss of p-selectin binding. no effect on e-selectin binding.
46–51	no sulfation. almost complete loss of p-selectin binding. no effect on e-selectin binding.
46	binding l-selectin reduced by 20%, neutrophil recruitment reduced by 30%, and lymphocyte rolling reduced by 32%; when as
48	binding l-selectin reduced by 20%, neutrophil recruitment reduced by 30%, and lymphocyte rolling reduced by 32%; when as
51	binding l-selectin reduced by 86%, neutrophil recruitment reduced by 75% and, lymphocyte rolling reduced by 69%; when as
57	no e- nor p-selectin binding, and very little neutrophil rolling. binding of l-selectin reduced by 91%; when associated
320	no dimer formation. no effect on p-selectin binding.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-202733	Cell surface interactions at the vascular wall
R-HSA-109582	Hemostasis

MSigDB gene sets: 251 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_DN, FLECHNER_PBL_KIDNEY_TRANSPLANT_REJECTED_VS_OK_UP, ZHAN_LATE_DIFFERENTIATION_GENES_UP, MYOGENIN_Q6, GOBP_RESPONSE_TO_PEPTIDE, ENK_UV_RESPONSE_KERATINOCYTE_UP, GCANCTGNY_MYOD_Q6, MODULE_45, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, CAGCTG_AP4_Q5, GOBP_CELL_CELL_ADHESION, GOBP_CELLULAR_EXTRAVASATION, GOBP_LEUKOCYTE_MIGRATION, KLEIN_PRIMARY_EFFUSION_LYMPHOMA_UP, TGIF_01

GO Biological Process (6): cell adhesion (GO:0007155), leukocyte migration (GO:0050900), leukocyte tethering or rolling (GO:0050901), leukocyte adhesive activation (GO:0050902), cellular response to interleukin-6 (GO:0071354), symbiont entry into host cell (GO:0046718)

GO Molecular Function (3): virus receptor activity (GO:0001618), signaling receptor binding (GO:0005102), protein binding (GO:0005515)

GO Cellular Component (4): uropod (GO:0001931), plasma membrane (GO:0005886), membrane (GO:0016020), plasma membrane raft (GO:0044853)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Hemostasis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular extravasation	2
cellular process	1
immune system process	1
cell migration	1
leukocyte adhesion to vascular endothelial cell	1
leukocyte activation	1
response to interleukin-6	1
cellular response to cytokine stimulus	1
viral life cycle	1
symbiont entry into host	1
symbiont entry into host cell	1
exogenous protein binding	1
protein binding	1
binding	1
cell trailing edge	1
plasma membrane bounded cell projection	1
membrane	1
cell periphery	1
cellular anatomical structure	1
plasma membrane	1
membrane raft	1
plasma membrane region	1

Protein interactions and networks

STRING

2624 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SELPLG	SELP	P16109	999
SELPLG	SELE	P16111	999
SELPLG	SELL	P14151	997
SELPLG	ICAM1	P05362	991
SELPLG	VCAM1	P19320	990
SELPLG	CD40LG	P29965	982
SELPLG	SPN	P16150	969
SELPLG	ITGB2	P05107	939
SELPLG	CD44	P16070	928
SELPLG	F3	P13726	919
SELPLG	GP1BA	P07359	900
SELPLG	GLG1	Q92896	886
SELPLG	CD40	P25942	879
SELPLG	SNX20	Q7Z614	831
SELPLG	HECA	Q9UBI9	821

IntAct

19 interactions, top by confidence:

A	B	Type	Score
SELP	SELPLG	psi-mi:“MI:0407”(direct interaction)	0.800
SELP	SELPLG	psi-mi:“MI:0915”(physical association)	0.800
SELPLG	SELP	psi-mi:“MI:0407”(direct interaction)	0.800
SELPLG	SNX20	psi-mi:“MI:0915”(physical association)	0.610
SELPLG	SNX20	psi-mi:“MI:0407”(direct interaction)	0.610
SNX20	SELPLG	psi-mi:“MI:0403”(colocalization)	0.610
SELL	SELPLG	psi-mi:“MI:0407”(direct interaction)	0.440
SELE	SELPLG	psi-mi:“MI:0407”(direct interaction)	0.440
FLOT2	SELPLG	psi-mi:“MI:0403”(colocalization)	0.380
SELPLG	FLOT2	psi-mi:“MI:2364”(proximity)	0.380
sdhA	SELPLG	psi-mi:“MI:0915”(physical association)	0.000
SELPLG		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (12): SELPLG (Two-hybrid), MAGEA1 (Two-hybrid), SELPLG (PCA), SELPLG (Affinity Capture-Western), SELP (Affinity Capture-Western), MSN (Reconstituted Complex), SELPLG (Affinity Capture-Western), SELPLG (Affinity Capture-Western), SELPLG (Affinity Capture-Western), TNIP1 (Affinity Capture-Western), PIK3R1 (Affinity Capture-Western), TNIP1 (Two-hybrid)

ESM2 similar proteins: A0A1B0GUW6, A1EGX6, A6NM11, A6NMS7, A6QLF8, D3YU32, I3L273, J3KML8, O35930, O60309, Q08DY0, Q14242, Q2TBI7, Q32KG4, Q32L62, Q3MIW9, Q3TNW5, Q3V0E1, Q4R729, Q5VWK0, Q5VYM1, Q62170, Q659K0, Q68DN1, Q6AZ54, Q6MG22, Q6UXB8, Q6ZRG5, Q8BUE7, Q8K4E0, Q8N307, Q8N3K9, Q8TCU4, Q8WNU4, Q8WXI7, Q95JY5, Q96F05, Q96JA4, Q96M34, Q96M43

Diamond homologs: Q14242, Q62170

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
SELPLG	up-regulates	SELP	binding
SELPLG	up-regulates	SELE	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

73 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	53
Likely benign	15
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

113 predictions. Top by Δscore:

Variant	Effect	Δscore
12:108624309:GCACC:G	acceptor_loss	1.0000
12:108624310:CAC:C	acceptor_gain	1.0000
12:108624311:ACCT:A	acceptor_loss	1.0000
12:108624312:CCT:C	acceptor_loss	1.0000
12:108624313:C:CA	acceptor_loss	1.0000
12:108624313:C:CC	acceptor_gain	1.0000
12:108624314:T:A	acceptor_loss	1.0000
12:108624308:GGCAC:G	acceptor_gain	0.9900
12:108624309:GCAC:G	acceptor_gain	0.9900
12:108624310:CACC:C	acceptor_gain	0.9900
12:108624311:AC:A	acceptor_gain	0.9900
12:108624312:CC:C	acceptor_gain	0.9900
12:108628590:T:TA	donor_gain	0.9900
12:108633734:ACTT:A	donor_loss	0.9900
12:108633736:TTA:T	donor_loss	0.9900
12:108633737:TACCA:T	donor_loss	0.9900
12:108633738:A:AG	donor_loss	0.9900
12:108633738:ACCAC:A	donor_gain	0.9900
12:108633739:CCA:C	donor_gain	0.9900
12:108633739:CCACC:C	donor_gain	0.9900
12:108633733:CACTT:C	donor_loss	0.9800
12:108633738:A:AC	donor_gain	0.9800
12:108633739:C:CC	donor_gain	0.9800
12:108633736:TTAC:T	donor_gain	0.9500
12:108633737:TACC:T	donor_gain	0.9500
12:108633738:ACCA:A	donor_gain	0.9500
12:108633739:CCAC:C	donor_gain	0.9500
12:108625303:ATT:A	donor_gain	0.9400
12:108633738:AC:A	donor_gain	0.9300
12:108633739:CC:C	donor_gain	0.9300

AlphaMissense

2616 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:108623078:G:C	F410L	0.995
12:108623078:G:T	F410L	0.995
12:108623080:A:G	F410L	0.995
12:108623299:A:G	C337R	0.995
12:108623214:A:G	I365T	0.994
12:108623214:A:T	I365N	0.992
12:108623081:G:C	S409R	0.991
12:108623081:G:T	S409R	0.991
12:108623083:T:G	S409R	0.991
12:108623079:A:C	F410C	0.990
12:108623226:T:A	E361V	0.989
12:108623325:G:T	A328E	0.989
12:108623216:G:C	C364W	0.986
12:108623214:A:C	I365S	0.985
12:108623274:A:G	L345P	0.985
12:108623350:A:G	C320R	0.985
12:108623283:G:T	A342E	0.984
12:108623284:C:G	A342P	0.984
12:108623218:A:G	C364R	0.981
12:108623316:G:T	A331D	0.981
12:108623079:A:G	F410S	0.980
12:108623222:C:A	M362I	0.979
12:108623222:C:G	M362I	0.979
12:108623222:C:T	M362I	0.979
12:108623346:A:G	L321P	0.978
12:108623225:C:A	E361D	0.976
12:108623225:C:G	E361D	0.976
12:108623286:A:G	L341P	0.976
12:108623301:A:T	V336E	0.976
12:108623217:C:T	C364Y	0.975

dbSNP variants (sampled 300 via entrez): RS1000128794 (12:108634327 G>A), RS1000325370 (12:108626706 G>T), RS1000405654 (12:108628905 T>A), RS1000775473 (12:108624686 CTTTTTTCTTT>C), RS1000874064 (12:108627761 G>A,C), RS1001090423 (12:108622582 C>G), RS1001305460 (12:108632046 G>A,T), RS1001479524 (12:108622257 C>G), RS1001619475 (12:108623481 G>A,C), RS1001734652 (12:108623256 A>C,G,T), RS1001804756 (12:108621649 G>A,T), RS1002354851 (12:108625057 G>A), RS1002367047 (12:108627087 A>G), RS1002908369 (12:108630352 G>A,T), RS1002939510 (12:108630719 G>A)

Disease associations

OMIM: gene MIM:600738 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST000713_3	Conduct disorder (symptom count)	3.000000e-06
GCST002481_2	Acne (severe)	5.000000e-06
GCST006585_48	Blood protein levels	2.000000e-12
GCST010703_222	Brain morphology (MOSTest)	6.000000e-13

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3301394 (PROTEIN-PROTEIN INTERACTION), CHEMBL4183 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 155 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1215923	BIMOSIAMOSE	2	155

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

52 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Nickel	decreases expression, increases expression	3
(+)-JQ1 compound	decreases expression	2
Atrazine	increases expression, affects cotreatment	2
Tobacco Smoke Pollution	affects expression, increases methylation	2
Tretinoin	affects cotreatment, increases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
daidzein	affects cotreatment, affects expression	1
triphenyl phosphate	affects expression	1
2,5,2’,5’-tetrachlorobiphenyl	decreases expression	1
daidzin	affects cotreatment, affects expression	1
arsenite	increases methylation	1
zinc chloride	increases expression	1
butyraldehyde	increases expression	1
ferrous sulfate	increases expression	1
zinc chromate	increases abundance, increases expression	1
benzo(e)pyrene	decreases methylation	1
potassium chromate(VI)	affects cotreatment, increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
genistin	affects cotreatment, affects expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
Am 580	decreases expression	1
chromium hexavalent ion	increases abundance, increases expression	1
glycitein	affects cotreatment, affects expression	1
glycitin	affects cotreatment, affects expression	1
abrine	increases expression	1
jinfukang	decreases expression, affects cotreatment	1
theaflavin-3,3’-digallate	affects expression	1
Rosiglitazone	decreases expression	1
Sunitinib	decreases expression	1

ChEMBL screening assays

13 unique, capped per target: 13 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3293895	Binding	Inhibition of PSEL/PSGL1 (unknown origin) interaction	Synthesis and biological evaluation of a unique heparin mimetic hexasaccharide for structure-activity relationship studies. — J Med Chem

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E1G8	Abcam Jurkat SELPLG KO	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.