CLEC1B

Summary

CLEC1B (C-type lectin domain family 1 member B, HGNC:24356) is a protein-coding gene on chromosome 12p13.31-p13.2, encoding C-type lectin domain family 1 member B (Q9P126). C-type lectin-like receptor that serves as a platelet receptor for the lymphatic endothelial marker PDPN.

Natural killer (NK) cells express multiple calcium-dependent (C-type) lectin-like receptors, such as CD94 (KLRD1; MIM 602894) and NKG2D (KLRC4; MIM 602893), that interact with major histocompatibility complex class I molecules and either inhibit or activate cytotoxicity and cytokine secretion. CLEC2 is a C-type lectin-like receptor expressed in myeloid cells and NK cells (Colonna et al., 2000 [PubMed 10671229]).

Source: NCBI Gene 51266 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 1 total — 1 pathogenic
• MANE Select transcript: NM_016509

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24356
Approved symbol	CLEC1B
Name	C-type lectin domain family 1 member B
Location	12p13.31-p13.2
Locus type	gene with protein product
Status	Approved
Aliases	CLEC2, CLEC-2
Ensembl gene	ENSG00000165682
Ensembl biotype	protein_coding
OMIM	606783
Entrez	51266

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000298527, ENST00000348658, ENST00000398937, ENST00000428126, ENST00000864976, ENST00000864977

RefSeq mRNA: 3 — MANE Select: NM_016509 NM_001099431, NM_001393342, NM_016509

CCDS: CCDS41751, CCDS41752

Canonical transcript exons

ENST00000298527 — 6 exons

Exon	Start	End
ENSE00001095413	9996846	9997000
ENSE00001095422	9995140	9995246
ENSE00001626056	9998282	9998380
ENSE00001677545	9997160	9997279
ENSE00002311308	9993075	9993287
ENSE00002319807	9999037	9999121

Expression profiles

Bgee: expression breadth ubiquitous, 120 present calls, max score 96.23.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5040 / max 176.3465, expressed in 61 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
129460	0.4786	57
129461	0.0151	6
129459	0.0104	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	96.23	gold quality
mononuclear cell	CL:0000842	95.70	gold quality
leukocyte	CL:0000738	94.85	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.90	gold quality
liver	UBERON:0002107	87.48	gold quality
right lobe of liver	UBERON:0001114	83.07	gold quality
granulocyte	CL:0000094	81.10	gold quality
trabecular bone tissue	UBERON:0002483	80.08	gold quality
blood	UBERON:0000178	78.58	gold quality
bone marrow	UBERON:0002371	78.31	gold quality
buccal mucosa cell	CL:0002336	77.93	gold quality
bone marrow cell	CL:0002092	76.17	gold quality
right lung	UBERON:0002167	72.98	gold quality
sperm	CL:0000019	71.81	gold quality
cervix squamous epithelium	UBERON:0006922	71.56	gold quality
male germ cell	CL:0000015	70.59	gold quality
spleen	UBERON:0002106	68.93	gold quality
mucosa of urinary bladder	UBERON:0001259	66.71	gold quality
upper lobe of left lung	UBERON:0008952	64.84	gold quality
oocyte	CL:0000023	63.94	gold quality
upper lobe of lung	UBERON:0008948	63.07	gold quality
decidua	UBERON:0002450	62.80	gold quality
type B pancreatic cell	CL:0000169	62.49	gold quality
choroid plexus epithelium	UBERON:0003911	60.98	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	60.61	gold quality
orbitofrontal cortex	UBERON:0004167	59.14	gold quality
upper arm skin	UBERON:0004263	58.66	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	58.45	gold quality
diaphragm	UBERON:0001103	58.02	gold quality
inferior olivary complex	UBERON:0002127	57.78	gold quality

Single-cell (SCXA)

Detected in 13 experiment(s), a significant marker in 13.

Experiment	Marker?	Max mean expression
E-MTAB-7407	yes	3493.75
E-MTAB-10553	yes	2348.57
E-CURD-98	yes	2199.38
E-ANND-5	yes	657.89
E-CURD-112	yes	36.37
E-HCAD-4	yes	35.90
E-HCAD-9	yes	24.66
E-CURD-122	yes	21.75
E-MTAB-9221	yes	18.67
E-HCAD-10	yes	17.91
E-MTAB-9067	yes	12.40
E-HCAD-1	yes	6.30
E-ANND-3	yes	4.26

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 39)

• X-ray diffraction analysis of human CLEC-2 (PMID:16511244)
• platelets capture and transfer infectious HIV-1 via DC-SIGN and CLEC-2, thereby possibly facilitating HIV-1 dissemination in infected patients (PMID:16940507)
• Framework for understanding the effects of rhodocytin venom binding on CLEC-2 and for understanding the nature of endogenous ligands which will provide a basis for rational design of drugs to block ligand binding. (PMID:17132623)
• CLEC-2 is a physiological target protein of podoplanin and imply that it is involved in podoplanin-induced platelet aggregation, tumor metastasis (PMID:17616532)
• a direct interaction between CLEC-2 and podoplanin was confirmed; podoplanin is a ligand for CLEC-2 on renal cells. (PMID:18215137)
• Crystal structure of rhodocytin, a ligand for the platelet-activating receptor CLEC2, is reported. (PMID:18583525)
• NZ-1 neutralizes the interaction between podoplanin and CLEC-2, which may lead to the development of therapeutic antibodies against podoplanin-dependent cancer metastasis. (PMID:18707544)
• G6b-B inhibits constitutive and agonist-induced signaling by glycoprotein VI and CLEC-2. (PMID:18955485)
• It is the novel platelet activation receptor. (review) (PMID:19483399)
• RACK1 is a novel modulator of CLEC-2 expression. (PMID:19785988)
• CLEC-2 exists as a non-disulfide-linked homodimer which could allow each Syk molecule to interact with two YXXL motifs, one from each CLEC-2 monomer. (PMID:19824697)
• Phosphorylation of CLEC-2 is dependent on lipid rafts, actin polymerization, secondary mediators, and Rac1. (PMID:20154214)
• CLEC-2 activates Syk through dimerization. (PMID:20154219)
• Virion incorporation of podoplanin mediates CLEC-2 interactions of HIV-1 derived from 293T cells, while incorporation of a different cellular factor seems to be responsible for CLEC-2-dependent capture of PBMC-derived viruses. (PMID:20482880)
• CLEC-2 is the first member of the C-type lectin family of receptors identified to stimulate platelet aggregation through a tyrosine kinase-dependent pathway. (Review) (PMID:21714702)
• platelets regulate blood/lymphatic vessel separation by inhibiting the proliferation, migration, and tube formation of LECs, mainly because of the release of BMP-9 upon activation by CLEC-2/podoplanin in (PMID:22556408)
• Here, the bidirectional relationship between CLEC-2 and podoplanin is described and considered in the context of tumour growth and metastasis. (PMID:22682130)
• Shedding of CLEC-2 from the cell surface may reflect increased expression of this membrane protein and serve as a marker of disease activity. (PMID:22736279)
• The glycosylation sites (N120 and N134) are necessary for the surface expression of CLEC-2. (PMID:22740230)
• A differential proteomic analysis of basal and rhodocytin-activated platelets with the aim of providing novel clues on CLEC-2 signaling regulation. (PMID:23053573)
• Dimerization of two phosphorylated CLEC-2 molecules leads to recruitment of the tyrosine kinase Syk via its tandem SH2 domains and initiation of a downstream signaling cascade (PMID:23264619)
• fucoidan is a novel CLEC-2 receptor agonist that activates platelets through a SFK-dependent signaling pathway (PMID:23341451)
• PI3K and Tec family kinases play a crucial role in the regulation of platelet activation and Syk phosphorylation downstream of the CLEC-2 receptor (PMID:25767114)
• Data (including data from studies using recombinant proteins) suggest that a diverse range of ligands activate platelets through activation/phosphorylation of CD36/GPVI (glycoprotein VI) and/or CLEC-2 (C-type lectin-like receptor-2). (PMID:25849538)
• CLEC-2 regulates Akt and MAPK downstream of PI3K and PKC, leading to phosphorylation and inhibition of GSK3alpha/beta, and enhanced platelet aggregation and secretion. (PMID:25858425)
• CLEC2 prevents expression of PI3K subunits, in a SYK-dependent manner, to suppress the invasive activities of gastric cancer cells. (PMID:26855187)
• NZ-1 inhibits the hPDPN-CLEC-2 interaction and is also useful for anti-PA tag MAb.The minimum epitope of LpMab-13 was identified as Ala42-Asp49 of hPDPN using Western blot and flow cytometry. The combination of different epitope-possessing MAbs could be advantageous for the hPDPN-targeting diagnosis and therapy (PMID:27328060)
• the CHIP/CLEC-2 axis may play an important role in the modulation of immune response. (PMID:27443248)
• CLEC-2 may have a role in unfavorable postoperative prognosis of patients with clear cell renal cell carcinoma (PMID:27564117)
• CLEC-2 and P2Y12 are required for CpG ODN-induced platelet activation and thrombosis, and might be targeted to prevent adverse events in patients at risk. (PMID:28296036)
• Data (including data from studies using cells from knockout mice) suggest that CLEC2/CLEC2R signaling is dependent on thromboxane A2 generation and is potentiated by co-stimulation with different GNAQ agonists. (CLEC2 = C-type lectin CLEC2; CLEC2R = CLEC2 receptor; GNAQ = guanine nucleotide-binding protein G[q] subunit alpha) (PMID:28705934)
• tetraspanin CD37 controls CLEC-2 membrane organization and provides new molecular insights into the mechanisms underlying CLEC-2-dependent dendritic cell migration. (PMID:30185523)
• Functional significance of the platelet immune receptors GPVI and CLEC-2. (PMID:30601137)
• Platelet membrane lipid rafts protein composition varies following GPVI and CLEC-2 receptors activation. (PMID:30677554)
• Platelets and cancer-associated thrombosis: focusing on the platelet activation receptor CLEC-2 and podoplanin. (PMID:31778548)
• Heme induces human and mouse platelet activation through C-type-lectin-like receptor-2. (PMID:32354867)
• Control of Platelet CLEC-2-Mediated Activation by Receptor Clustering and Tyrosine Kinase Signaling. (PMID:32396849)
• [Expression of Clec2 in Patients with Myelodysplastic Syndrome and Its Correlation with TPO]. (PMID:33067967)
• Endothelial CLEC-1b plays a protective role against cancer hematogenous metastasis. (PMID:38531221)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:ch211-193e13.5	ENSDARG00000052656
danio_rerio		ENSDARG00000074732
danio_rerio	si:dkey-26c10.5	ENSDARG00000088023
danio_rerio	si:ch211-170d8.8	ENSDARG00000090945
mus_musculus	Clec1b	ENSMUSG00000030159
rattus_norvegicus	Clec1b	ENSRNOG00000057335
drosophila_melanogaster	rgn	FBGN0261258
caenorhabditis_elegans		WBGENE00009156
caenorhabditis_elegans		WBGENE00013008

Paralogs (23): CLEC2D (ENSG00000069493), CD69 (ENSG00000110848), CLEC2B (ENSG00000110852), KLRB1 (ENSG00000111796), KLRD1 (ENSG00000134539), KLRC1 (ENSG00000134545), KLRG1 (ENSG00000139187), KLRF1 (ENSG00000150045), CLEC1A (ENSG00000150048), CLEC7A (ENSG00000172243), CLEC12A (ENSG00000172322), OLR1 (ENSG00000173391), KLRC4 (ENSG00000183542), CLEC2A (ENSG00000188393), KLRG2 (ENSG00000188883), CLEC9A (ENSG00000197992), KLRC2 (ENSG00000205809), KLRC3 (ENSG00000205810), KLRK1 (ENSG00000213809), CLEC2L (ENSG00000236279), CLEC12B (ENSG00000256660), KLRF2 (ENSG00000256797), CLEC5A (ENSG00000258227)

Protein

Protein identifiers

C-type lectin domain family 1 member B — Q9P126 (reviewed: Q9P126)

Alternative names: C-type lectin-like receptor 2

All UniProt accessions (2): H7BYT7, Q9P126

UniProt curated annotations — full annotation on UniProt →

Function. C-type lectin-like receptor that serves as a platelet receptor for the lymphatic endothelial marker PDPN. Plays an essential role in blood/lymphatic vessel separation and thrombus formation through homophilic association. Acts as a negative regulator of lymphatic endothelial cell behavior by inhibiting proliferation, migration, and tube formation. Upon ligand binding, triggers a signaling cascade via sequential activation of SRC and SYK tyrosine kinases, leading to activation of PLCG2. Through this pathway, mediates platelet adhesion, aggregation, and secretion in response to PDPN-expressing cells. During embryonic development, plays a central role in cerebrovascular formation and blood/lymphatic vessel separation. Interacts with PDPN on neuroepithelial cells to promote platelet activation, thereby ensuring maturation and integrity of cerebrovascular structures and preventing hemorrhage. (Microbial infection) Acts as a receptor for the platelet-aggregating snake venom protein rhodocytin. Rhodocytin binding leads to tyrosine phosphorylation and this promotes the binding of spleen tyrosine kinase (SYK) and initiation of downstream tyrosine phosphorylation events and activation of PLCG2. (Microbial infection) Acts as an attachment factor for Human immunodeficiency virus type 1 (HIV-1) and facilitates its capture by platelets.

Subunit / interactions. Homodimer. Interacts (via cytoplasmic domain) with RACK1; promotes CLEC1B ubiquitination and proteasome-mediated degradation. Interacts (dimer) with SYK (via SH2 domains). Interacts with PDPN; the interaction is independent of CLEC1B glycosylation and activates CLEC1B.

Subcellular location. Membrane.

Tissue specificity. Expressed preferentially in the liver. Also expressed in immune cells of myeloid origin and on the surface of platelets.

Post-translational modifications. Glycosylated. Phosphorylated on tyrosine residue in response to rhodocytin binding.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9P126-1	1	yes
Q9P126-2	2

RefSeq proteins (3): NP_001092901, NP_001380271, NP_057593* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001304	C-type_lectin-like	Domain
IPR016186	C-type_lectin-like/link_sf	Homologous_superfamily
IPR016187	CTDL_fold	Homologous_superfamily
IPR033992	NKR-like_CTLD	Domain
IPR052309	C-type_Lectin_Domain_Fam1	Family

Pfam: PF00059

UniProt features (36 total): mutagenesis site 8, strand 6, sequence variant 4, disulfide bond 3, helix 3, glycosylation site 3, topological domain 2, chain 1, splice variant 1, transmembrane region 1, sequence conflict 1, domain 1, short sequence motif 1, modified residue 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
2C6U	X-RAY DIFFRACTION	1.6
3WSR	X-RAY DIFFRACTION	1.91
3WWK	X-RAY DIFFRACTION	2.98

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P126-F1	88.77	0.73

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 (1): 7

Disulfide bonds (3): 102–113, 130–216, 195–208

Glycosylation sites (3): 68, 120, 134

Mutagenesis-validated functional residues (8):

Position	Phenotype
7	loss of activation upon podoplanin or rhodocytin stimulation.
150	substantial reduction in rhodocytin binding.
171	significant reduction in rhodocytin binding.
184	significant reduction in rhodocytin binding.
187	significant reduction in rhodocytin binding.
188	significant reduction in rhodocytin binding.
190	significant reduction in rhodocytin binding.
192	significant reduction in rhodocytin binding.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-114604	GPVI-mediated activation cascade
R-HSA-9707616	Heme signaling

MSigDB gene sets: 98 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GSE45365_NK_CELL_VS_CD8A_DC_UP, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, GOCC_CELL_SURFACE, EVI1_05, GOBP_PLATELET_MORPHOGENESIS, CAIRO_HEPATOBLASTOMA_DN, AACTTT_UNKNOWN, RYTTCCTG_ETS2_B, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GSE13762_CTRL_VS_125_VITAMIND_DAY5_DC_DN, GAZDA_DIAMOND_BLACKFAN_ANEMIA_ERYTHROID_DN, CHEN_METABOLIC_SYNDROM_NETWORK, VANDESLUIS_COMMD1_TARGETS_GROUP_3_DN, TORCHIA_TARGETS_OF_EWSR1_FLI1_FUSION_DN

GO Biological Process (4): defense response (GO:0006952), signal transduction (GO:0007165), cell surface receptor signaling pathway (GO:0007166), platelet formation (GO:0030220)

GO Molecular Function (3): transmembrane signaling receptor activity (GO:0004888), carbohydrate binding (GO:0030246), protein binding (GO:0005515)

GO Cellular Component (3): plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Platelet activation, signaling and aggregation	1
Cellular responses to stress	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
cellular anatomical structure	2
response to stress	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
signal transduction	1
myeloid cell differentiation	1
platelet morphogenesis	1
anatomical structure formation involved in morphogenesis	1
signaling receptor activity	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1268 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CLEC1B	PDPN	Q86YL7	999
CLEC1B	SYK	P43405	925
CLEC1B	GP6	Q9HCN6	874
CLEC1B	VWF	P04275	845
CLEC1B	KLRF1	Q9NZS2	834
CLEC1B	KLRC4	O43908	801
CLEC1B	KLRB1	Q12918	745
CLEC1B	CLEC4G	Q6UXB4	720
CLEC1B	SELP	P16109	712
CLEC1B	ASGR1	P07306	697
CLEC1B	GP1BA	P07359	693
CLEC1B	P2RY12	Q9H244	683
CLEC1B	SELPLG	Q14242	675
CLEC1B	S100A13	Q99584	662
CLEC1B	PLCG2	P16885	657

IntAct

2 interactions, top by confidence:

A	B	Type	Score
NINL	CLEC1B	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (9): CLEC1B (Two-hybrid), STUB1 (Affinity Capture-MS), STUB1 (Affinity Capture-Western), CLEC1B (Affinity Capture-MS), CLEC1B (Positive Genetic), GNB2L1 (Two-hybrid), GNB2L1 (Affinity Capture-Western), GNB2L1 (Reconstituted Complex), S (Reconstituted Complex)

ESM2 similar proteins: A4KWA1, D3W0D1, D4AD02, O54709, O70215, O88713, P20937, P26715, P27471, P27811, P27812, P27814, Q07108, Q0ZUP0, Q0ZUP1, Q12918, Q149M0, Q2HXU8, Q2NL33, Q5NKN2, Q5NKN4, Q5QGZ9, Q60652, Q60654, Q63378, Q64335, Q67EQ0, Q6QLQ4, Q6UXN8, Q80XD9, Q80ZC8, Q8BRU4, Q8BWY2, Q8C1T8, Q8CJC7, Q8MI05, Q8NC01, Q8VD98, Q8VI21, Q95MI5

Diamond homologs: A3FM55, B4XSY4, B4XSZ2, B4XSZ3, B4XSZ4, B4XSZ5, B4XSZ6, B4XSZ7, B4XSZ9, D4AD02, O35778, O54707, O54709, O70156, O70215, P07897, P08290, P10716, P13608, P16112, P24721, P26715, P26717, P26718, P27812, P27814, P34927, P49300, P60883, P61252, P78380, P79391, P81112, P81397, Q09GK0, Q0VCS6, Q12918, Q13241, Q149M0, Q28670

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
RACK1	“down-regulates quantity by destabilization”	CLEC1B	binding
“Elongin E3-Cul-5”	“down-regulates quantity by destabilization”	CLEC1B	polyubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	Pathogenic

SpliceAI

773 predictions. Top by Δscore:

Variant	Effect	Δscore
12:10012879:GATGT:G	donor_gain	1.0000
12:10012882:GT:G	donor_gain	1.0000
12:10012884:G:GG	donor_gain	1.0000
12:9995138:A:AC	donor_gain	1.0000
12:9995139:C:CC	donor_gain	1.0000
12:9997286:T:C	acceptor_gain	1.0000
12:9997286:T:TC	acceptor_gain	1.0000
12:10010848:GAG:G	donor_gain	0.9900
12:10010849:AGGTA:A	donor_loss	0.9900
12:10010850:GGT:G	donor_loss	0.9900
12:10010851:GTAGG:G	donor_loss	0.9900
12:10010852:T:A	donor_loss	0.9900
12:9995139:CATA:C	donor_gain	0.9900
12:9995246:CCTAT:C	acceptor_gain	0.9900
12:9995250:T:C	acceptor_gain	0.9900
12:9995250:T:TC	acceptor_gain	0.9900
12:9996842:TTAC:T	donor_loss	0.9900
12:9996843:T:TG	donor_loss	0.9900
12:9997277:CAG:C	acceptor_gain	0.9900
12:9997278:AGCTA:A	acceptor_loss	0.9900
12:9997279:GCTA:G	acceptor_loss	0.9900
12:9997280:C:CC	acceptor_gain	0.9900
12:9997280:CTA:C	acceptor_loss	0.9900
12:9997285:T:TC	acceptor_gain	0.9900
12:9999031:TCTTA:T	donor_loss	0.9900
12:9999032:CTTA:C	donor_loss	0.9900
12:9999033:TTA:T	donor_loss	0.9900
12:9999034:TACC:T	donor_loss	0.9900
12:9999035:A:AC	donor_gain	0.9900
12:9999035:A:C	donor_loss	0.9900

AlphaMissense

1519 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:9995211:C:A	W158C	0.997
12:9995211:C:G	W158C	0.997
12:9996915:C:A	W123C	0.996
12:9996915:C:G	W123C	0.996
12:9996966:C:A	W106C	0.995
12:9996966:C:G	W106C	0.995
12:9993186:C:G	C216S	0.993
12:9993187:A:T	C216S	0.993
12:9995169:C:A	W172C	0.993
12:9995169:C:G	W172C	0.993
12:9995213:A:G	W158R	0.993
12:9995213:A:T	W158R	0.993
12:9995175:C:A	W170C	0.992
12:9995175:C:G	W170C	0.992
12:9996895:C:G	C130S	0.992
12:9996896:A:T	C130S	0.992
12:9996906:A:C	S126R	0.992
12:9996906:A:T	S126R	0.992
12:9996908:T:G	S126R	0.992
12:9996894:G:C	C130W	0.991
12:9996895:C:T	C130Y	0.990
12:9993249:C:G	C195S	0.989
12:9993250:A:T	C195S	0.989
12:9996946:C:G	C113S	0.988
12:9996947:A:T	C113S	0.988
12:9996945:G:C	C113W	0.985
12:9996946:C:T	C113Y	0.985
12:9993210:C:G	C208S	0.982
12:9993211:A:T	C208S	0.982
12:9993185:A:C	C216W	0.981

dbSNP variants (sampled 300 via entrez): RS1000961036 (12:9995984 A>G), RS1001168936 (12:9997604 C>G), RS1001250120 (12:10001601 T>C), RS1002011571 (12:10001965 C>T), RS1002067599 (12:10002040 T>C,G), RS1002111997 (12:9996053 C>T), RS1002523207 (12:9997723 G>A), RS1002524337 (12:10000944 C>A,T), RS1002590375 (12:9996220 C>A), RS1002677517 (12:10003882 G>A,T), RS1002893024 (12:9992924 G>A), RS1003213534 (12:9994844 C>T), RS1003244470 (12:9998784 C>G,T), RS1003682877 (12:10002734 A>G), RS1003735179 (12:10002963 T>C)

Disease associations

OMIM: gene MIM:606783 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST006585_1591	Blood protein levels	5.000000e-70
GCST010725_46	Malaria	1.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
CGP 52608	affects binding, increases reaction	1
rhodocytin protein, Calloselasma rhodostoma	affects activity, affects binding	1
2-palmitoylglycerol	increases expression	1
ferrostatin-1	decreases expression, decreases reaction, increases expression	1
Air Pollutants, Occupational	increases expression	1
Cytarabine	decreases expression	1
Nickel	increases expression	1
Phthalic Acids	decreases expression	1
Sodium Selenite	decreases expression	1

Clinical trials (associated diseases)

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