CLEC2B
gene geneOn this page
Also known as AICLHP10085
Summary
CLEC2B (C-type lectin domain family 2 member B, HGNC:2053) is a protein-coding gene on chromosome 12p13.31, encoding C-type lectin domain family 2 member B (Q92478). Membrane-bound protein expressed on myeloid cells which acts as a ligand to stimulate the activating receptor NKp80/KLRF1, expressed on the surface of natural killer (NK) cells.
This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell activation antigen. An alternative splice variant has been described but its full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region.
Source: NCBI Gene 9976 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 28 total
- MANE Select transcript:
NM_005127
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2053 |
| Approved symbol | CLEC2B |
| Name | C-type lectin domain family 2 member B |
| Location | 12p13.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | AICL, HP10085 |
| Ensembl gene | ENSG00000110852 |
| Ensembl biotype | protein_coding |
| OMIM | 603242 |
| Entrez | 9976 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 9 protein_coding, 2 retained_intron
ENST00000228438, ENST00000538152, ENST00000539028, ENST00000540743, ENST00000893503, ENST00000893504, ENST00000893505, ENST00000893506, ENST00000893507, ENST00000893508, ENST00000964946
RefSeq mRNA: 1 — MANE Select: NM_005127
NM_005127
CCDS: CCDS8605
Canonical transcript exons
ENST00000228438 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000718717 | 9854381 | 9854484 |
| ENSE00000718723 | 9857474 | 9857637 |
| ENSE00000821831 | 9852369 | 9853408 |
| ENSE00002212889 | 9869205 | 9869354 |
| ENSE00003673571 | 9862499 | 9862573 |
Expression profiles
Bgee: expression breadth ubiquitous, 283 present calls, max score 98.85.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.7580 / max 2037.3463, expressed in 1095 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 129439 | 31.2236 | 1062 |
| 129440 | 2.2128 | 722 |
| 129443 | 0.6224 | 180 |
| 129438 | 0.3785 | 191 |
| 129442 | 0.1751 | 77 |
| 129441 | 0.1457 | 74 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| upper leg skin | UBERON:0004262 | 98.85 | gold quality |
| skin of hip | UBERON:0001554 | 98.60 | gold quality |
| periodontal ligament | UBERON:0008266 | 97.80 | gold quality |
| gluteal muscle | UBERON:0002000 | 97.62 | gold quality |
| vena cava | UBERON:0004087 | 96.95 | gold quality |
| pericardium | UBERON:0002407 | 96.69 | gold quality |
| mononuclear cell | CL:0000842 | 96.63 | gold quality |
| penis | UBERON:0000989 | 96.61 | gold quality |
| monocyte | CL:0000576 | 96.58 | gold quality |
| mammalian vulva | UBERON:0000997 | 96.55 | gold quality |
| leukocyte | CL:0000738 | 96.53 | gold quality |
| granulocyte | CL:0000094 | 96.19 | gold quality |
| decidua | UBERON:0002450 | 96.13 | gold quality |
| gingiva | UBERON:0001828 | 96.12 | gold quality |
| upper arm skin | UBERON:0004263 | 95.90 | gold quality |
| gingival epithelium | UBERON:0001949 | 95.80 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 95.44 | gold quality |
| skin of leg | UBERON:0001511 | 95.43 | gold quality |
| zone of skin | UBERON:0000014 | 95.30 | gold quality |
| visceral pleura | UBERON:0002401 | 95.17 | gold quality |
| skin of abdomen | UBERON:0001416 | 95.09 | gold quality |
| left ovary | UBERON:0002119 | 95.08 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 94.53 | gold quality |
| pleura | UBERON:0000977 | 94.50 | gold quality |
| spleen | UBERON:0002106 | 94.40 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 94.31 | gold quality |
| calcaneal tendon | UBERON:0003701 | 94.10 | gold quality |
| bone marrow | UBERON:0002371 | 94.07 | gold quality |
| right ovary | UBERON:0002118 | 94.03 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 93.93 | gold quality |
Single-cell (SCXA)
Detected in 18 experiment(s), a significant marker in 14.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8884 | yes | 1182.12 |
| E-GEOD-110499 | yes | 282.56 |
| E-CURD-122 | yes | 44.93 |
| E-HCAD-1 | yes | 43.44 |
| E-HCAD-8 | yes | 33.87 |
| E-HCAD-4 | yes | 29.06 |
| E-MTAB-10287 | yes | 28.23 |
| E-HCAD-10 | yes | 28.00 |
| E-CURD-46 | yes | 19.65 |
| E-CURD-88 | yes | 16.05 |
| E-MTAB-8410 | yes | 12.83 |
| E-GEOD-135922 | yes | 11.10 |
| E-MTAB-5061 | yes | 5.93 |
| E-CURD-95 | no | 783.72 |
| E-MTAB-10290 | no | 584.46 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GLI2
miRNA regulators (miRDB)
60 targeting CLEC2B, 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-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-3912-5P | 99.95 | 66.11 | 925 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
| HSA-MIR-4446-5P | 99.72 | 69.19 | 2544 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
| HSA-MIR-488-3P | 99.61 | 68.79 | 1731 |
| HSA-MIR-6832-5P | 99.58 | 64.82 | 1132 |
| HSA-MIR-12122 | 99.56 | 69.33 | 1672 |
| HSA-MIR-582-5P | 99.47 | 70.79 | 2635 |
| HSA-MIR-3123 | 99.47 | 67.15 | 2693 |
| HSA-MIR-5683 | 99.36 | 68.59 | 2083 |
| HSA-MIR-19A-5P | 99.36 | 66.93 | 1675 |
| HSA-MIR-19B-1-5P | 99.36 | 67.07 | 1669 |
Literature-anchored findings (GeneRIF, showing 9)
- NKp80 is expressed on a highly responsive subset of effector memory CD8 T cells with an inflammatory NK-like phenotype and promotes T-cell responses toward AICL-expressing cells. (PMID:18922855)
- expressed in primary liver cancers (PMID:20663776)
- our data report a previously unrecognized regulatory circuit enabling autonomous control of human NK cell responses via the NKp80-AICL axis. (PMID:23929856)
- Lipid rafts do not directly contribute to CLEC-2 receptor activation in platelets. (PMID:25462818)
- Data suggest that vascular smooth muscle cells (VSMCs) stimulate platelets through platelet receptor CLEC-2, possibly leading to thrombus formation after plaque erosion. (PMID:26418160)
- Review of C-type lectin-like receptor 2 and podoplanin interactions [review] (PMID:27960039)
- our data demonstrate that AICL expression and surfacing are tightly controlled by several independent cellular posttranslational mechanisms. (PMID:29980609)
- Plasma soluble C-type lectin-like receptor-2 is associated with the risk of coronary artery disease. (PMID:31280468)
- Association between c-type lectin-like receptor 2 and microsatellite instability in colorectal cancer: a cross-sectional study. (PMID:35902826)
Cross-species orthologs
7 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 |
| drosophila_melanogaster | rgn | FBGN0261258 |
| caenorhabditis_elegans | WBGENE00009156 | |
| caenorhabditis_elegans | WBGENE00013008 |
Paralogs (23): CLEC2D (ENSG00000069493), CD69 (ENSG00000110848), KLRB1 (ENSG00000111796), KLRD1 (ENSG00000134539), KLRC1 (ENSG00000134545), KLRG1 (ENSG00000139187), KLRF1 (ENSG00000150045), CLEC1A (ENSG00000150048), CLEC1B (ENSG00000165682), 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 2 member B — Q92478 (reviewed: Q92478)
Alternative names: Activation-induced C-type lectin, C-type lectin superfamily member 2, IFN-alpha-2b-inducing-related protein 1
All UniProt accessions (2): Q92478, F5H631
UniProt curated annotations — full annotation on UniProt →
Function. Membrane-bound protein expressed on myeloid cells which acts as a ligand to stimulate the activating receptor NKp80/KLRF1, expressed on the surface of natural killer (NK) cells. In turn, stimulates NK-cell cytotoxicity and cytokine production leading to the cytolysis of malignant CLEC2B-expressing myeloid cells.
Subunit / interactions. Homodimer. Interacts with NKp80/KLRF1.
Subcellular location. Cell membrane. Golgi apparatus membrane.
Tissue specificity. Expressed preferentially in lymphoid tissues, and in most hematopoietic cell types.
Post-translational modifications. (Microbial infection) Ubiquitinated by human herpesvirus 8 protein K5, leading to endolysosomal degradation. N-linked glycosylated; required to enable surface expression and the extent of surface expression correlates with the number of functional conventional N-glycosylation sites.
Induction. By TLR activation. By IL12 and IL18.
RefSeq proteins (1): NP_005118* (*=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 |
| IPR050828 | C-type_lectin/matrix_domain | Family |
Pfam: PF00059
UniProt features (15 total): disulfide bond 3, sequence conflict 3, glycosylation site 3, topological domain 2, chain 1, mutagenesis site 1, transmembrane region 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q92478-F1 | 92.25 | 0.79 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (3): 123–136, 35–46, 63–144
Glycosylation sites (3): 57, 62, 100
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 87 | complete loss of dimerization. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-198933 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
MSigDB gene sets: 235 (showing top):
MCLACHLAN_DENTAL_CARIES_UP, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, MODULE_151, MODULE_45, MODULE_64, GOBP_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, HERNANDEZ_MITOTIC_ARREST_BY_DOCETAXEL_1_DN, MODULE_118, GOBP_REGULATION_OF_IMMUNE_RESPONSE, MODULE_75, ONKEN_UVEAL_MELANOMA_UP, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, MODULE_410
GO Biological Process (2): NK T cell activation (GO:0051132), signal transduction (GO:0007165)
GO Molecular Function (4): carbohydrate binding (GO:0030246), identical protein binding (GO:0042802), receptor ligand activity (GO:0048018), protein binding (GO:0005515)
GO Cellular Component (4): Golgi membrane (GO:0000139), plasma membrane (GO:0005886), Golgi apparatus (GO:0005794), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Adaptive Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| alpha-beta T cell activation | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| protein binding | 1 |
| signaling receptor binding | 1 |
| signal transduction | 1 |
| signaling receptor activator activity | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
718 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CLEC2B | KLRF1 | Q9NZS2 | 987 |
| CLEC2B | SLAMF6 | Q96DU3 | 783 |
| CLEC2B | KLRC4 | O43908 | 780 |
| CLEC2B | KLRF2 | D3W0D1 | 726 |
| CLEC2B | NCR1 | O76036 | 693 |
| CLEC2B | HLA-E | P13747 | 669 |
| CLEC2B | NCR2 | O95944 | 641 |
| CLEC2B | NCR3 | O14931 | 625 |
| CLEC2B | MICB | P79525 | 611 |
| CLEC2B | KLRK1 | P26718 | 516 |
| CLEC2B | CLEC3A | O75596 | 513 |
| CLEC2B | ICAM1 | P05362 | 499 |
| CLEC2B | OLR1 | P78380 | 488 |
| CLEC2B | CD27 | P26842 | 482 |
| CLEC2B | TLR9 | Q9NR96 | 474 |
IntAct
27 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CLEC2B | CLEC2B | psi-mi:“MI:0407”(direct interaction) | 0.560 |
| CLEC2B | CLEC2B | psi-mi:“MI:0195”(covalent binding) | 0.560 |
| CLEC2B | A2M | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLEC2B | DNM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLEC2B | TOR1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| HTT | CLEC2B | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLEC2B | ASPHD2 | psi-mi:“MI:0914”(association) | 0.530 |
| CLEC2B | KLRF1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ENO1 | psi-mi:“MI:0914”(association) | 0.350 | |
| CLEC2B | DEGS1 | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC2B | ADAM10 | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2A | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (147): CLEC2B (Affinity Capture-MS), TGFBR3 (Affinity Capture-MS), DGAT1 (Affinity Capture-MS), ADAMTS2 (Affinity Capture-MS), FAR2 (Affinity Capture-MS), EIF2B1 (Affinity Capture-MS), FAM69A (Affinity Capture-MS), FAM114A2 (Affinity Capture-MS), SUN1 (Affinity Capture-MS), EXTL2 (Affinity Capture-MS), TMEM199 (Affinity Capture-MS), PON2 (Affinity Capture-MS), USP22 (Affinity Capture-MS), KIAA2013 (Affinity Capture-MS), SLC4A7 (Affinity Capture-MS)
ESM2 similar proteins: A0A0E4BZH1, A4KWA1, D3W0D1, O35778, O54707, P27471, P27812, P27814, P78380, P79391, Q0VCS6, Q0ZUP0, Q0ZUP1, Q12918, Q13241, Q2HXU8, Q38HS3, Q49BZ4, Q58DF9, Q5NKN2, Q5NKN4, Q5QGZ9, Q60651, Q60652, Q60653, Q60660, Q60682, Q63378, Q64329, Q6QLQ4, Q6UVW9, Q80ZC8, Q863H3, Q8BWY2, Q8C567, Q8CJC7, Q8HZR8, Q8MHY9, Q8NC01, Q8VD98
Diamond homologs: A4D1S0, O88713, P0C7M8, P0C7M9, Q0ZCA7, Q3UM83, Q92478, Q96E93, A4KWA5, A4KWA6, A4KWA8, O70156, O89335, P06734, P08290, P14370, P37217, P49259, P79391, Q07108, Q0H8B9, Q5M9I1, Q5QGZ9, Q60660, Q6QLQ4, Q6UVW9, Q6UXN8, Q80XD9, Q8BWY2, Q8C1T8, Q8N1N0, Q8VI21, Q91V08, Q925N7, Q9D676, Q9UBG0, Q9UHP7, Q9WVF9, Q9XTA8, A4KWA1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
28 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 19 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
682 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:9857638:C:CC | acceptor_gain | 1.0000 |
| 12:9857633:TTTAA:T | acceptor_gain | 0.9900 |
| 12:9857634:TTAA:T | acceptor_gain | 0.9900 |
| 12:9857635:TAA:T | acceptor_gain | 0.9900 |
| 12:9854379:A:AC | donor_gain | 0.9800 |
| 12:9854380:C:CC | donor_gain | 0.9800 |
| 12:9854482:ATT:A | acceptor_gain | 0.9800 |
| 12:9857468:ACTT:A | donor_loss | 0.9800 |
| 12:9857469:CTT:C | donor_loss | 0.9800 |
| 12:9857470:TTA:T | donor_loss | 0.9800 |
| 12:9857471:TAC:T | donor_loss | 0.9800 |
| 12:9857472:ACCAT:A | donor_loss | 0.9800 |
| 12:9857473:C:T | donor_loss | 0.9800 |
| 12:9854480:AAATT:A | acceptor_gain | 0.9700 |
| 12:9857472:A:AC | donor_gain | 0.9700 |
| 12:9857473:C:CC | donor_gain | 0.9700 |
| 12:9857634:TTAAC:T | acceptor_loss | 0.9700 |
| 12:9857636:AA:A | acceptor_gain | 0.9700 |
| 12:9857637:AC:A | acceptor_loss | 0.9700 |
| 12:9857638:CTGGA:C | acceptor_loss | 0.9700 |
| 12:9857639:T:A | acceptor_loss | 0.9700 |
| 12:9857650:C:CT | acceptor_loss | 0.9700 |
| 12:9857651:A:T | acceptor_loss | 0.9700 |
| 12:9869538:A:AC | donor_gain | 0.9700 |
| 12:9869539:C:CC | donor_gain | 0.9700 |
| 12:9854481:AATT:A | acceptor_gain | 0.9600 |
| 12:9869539:CTTT:C | donor_gain | 0.9600 |
| 12:9853408:CCTGC:C | acceptor_loss | 0.9500 |
| 12:9853409:C:CG | acceptor_loss | 0.9500 |
| 12:9853410:T:G | acceptor_loss | 0.9500 |
AlphaMissense
994 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:9854446:C:A | W92C | 0.995 |
| 12:9854446:C:G | W92C | 0.995 |
| 12:9857543:C:A | W56C | 0.995 |
| 12:9857543:C:G | W56C | 0.995 |
| 12:9854407:C:A | W105C | 0.991 |
| 12:9854407:C:G | W105C | 0.991 |
| 12:9854479:A:C | F81L | 0.989 |
| 12:9854479:A:T | F81L | 0.989 |
| 12:9854481:A:G | F81L | 0.989 |
| 12:9853319:C:G | C144S | 0.985 |
| 12:9853320:A:T | C144S | 0.985 |
| 12:9853330:T:A | R140S | 0.985 |
| 12:9853330:T:G | R140S | 0.985 |
| 12:9854448:A:G | W92R | 0.985 |
| 12:9854448:A:T | W92R | 0.985 |
| 12:9857534:A:C | S59R | 0.984 |
| 12:9857534:A:T | S59R | 0.984 |
| 12:9857536:T:G | S59R | 0.984 |
| 12:9857523:C:G | C63S | 0.983 |
| 12:9857524:A:T | C63S | 0.983 |
| 12:9853373:A:G | L126P | 0.982 |
| 12:9857594:C:A | W39C | 0.981 |
| 12:9857594:C:G | W39C | 0.981 |
| 12:9857545:A:G | W56R | 0.980 |
| 12:9857545:A:T | W56R | 0.980 |
| 12:9857585:G:C | F42L | 0.980 |
| 12:9857585:G:T | F42L | 0.980 |
| 12:9857587:A:G | F42L | 0.980 |
| 12:9857522:A:C | C63W | 0.979 |
| 12:9853326:A:G | W142R | 0.978 |
dbSNP variants (sampled 300 via entrez): RS1000135230 (12:9868848 C>A), RS1000265699 (12:9862790 A>C,G), RS1000271193 (12:9869920 G>A), RS1000299787 (12:9863078 T>C), RS1000525124 (12:9856392 C>T), RS1000569259 (12:9869145 C>G), RS1000734502 (12:9864717 CTAAT>C), RS1000744545 (12:9865146 C>G,T), RS1000799929 (12:9857969 A>G), RS1000895109 (12:9856031 C>T), RS1000962746 (12:9858324 C>T), RS1001450876 (12:9861935 T>A,C), RS1001450984 (12:9869955 T>G), RS1001485350 (12:9863164 A>G), RS1001545748 (12:9868317 T>C)
Disease associations
OMIM: gene MIM:603242 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| 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
54 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| Air Pollutants | increases abundance, decreases expression, affects expression | 2 |
| Diuron | increases expression, decreases expression | 2 |
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance | 2 |
| GSK-J4 | increases expression | 1 |
| sotorasib | decreases expression, affects cotreatment | 1 |
| urushiol | decreases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| 3,4-dichloroaniline | increases expression | 1 |
| arsenite | increases reaction, affects binding | 1 |
| sulforaphane | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| cupric chloride | increases expression | 1 |
| hydroquinone | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| corosolic acid | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| entinostat | increases expression | 1 |
| 2,2’,4,4’,5-brominated diphenyl ether | increases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | increases expression | 1 |
| incobotulinumtoxinA | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E1TU | HAP1 CLEC2B (-) | Cancer cell line | Male |
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.