CLEC4D
gene geneOn this page
Also known as MpclCD368MCLDectin-3
Summary
CLEC4D (C-type lectin domain family 4 member D, HGNC:14554) is a protein-coding gene on chromosome 12p13.31, encoding C-type lectin domain family 4 member D (Q8WXI8). Calcium-dependent lectin that acts as a pattern recognition receptor (PRR) of the innate immune system: recognizes damage-associated molecular patterns (DAMPs) of pathogen-associated molecular patterns (PAMPs) of bacteria and fungi.
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. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region.
Source: NCBI Gene 338339 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 44 total
- MANE Select transcript:
NM_080387
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14554 |
| Approved symbol | CLEC4D |
| Name | C-type lectin domain family 4 member D |
| Location | 12p13.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Mpcl, CD368, MCL, Dectin-3 |
| Ensembl gene | ENSG00000166527 |
| Ensembl biotype | protein_coding |
| OMIM | 609964 |
| Entrez | 338339 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000299665, ENST00000382064, ENST00000959647
RefSeq mRNA: 1 — MANE Select: NM_080387
NM_080387
CCDS: CCDS8593
Canonical transcript exons
ENST00000299665 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001103860 | 8518164 | 8518274 |
| ENSE00001103867 | 8515236 | 8515328 |
| ENSE00001103870 | 8519009 | 8519160 |
| ENSE00001103874 | 8520226 | 8520341 |
| ENSE00001234025 | 8521124 | 8522366 |
| ENSE00001234035 | 8513503 | 8513760 |
Expression profiles
Bgee: expression breadth ubiquitous, 130 present calls, max score 91.56.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.0182 / max 598.0148, expressed in 170 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 123971 | 1.7460 | 147 |
| 123970 | 0.1918 | 84 |
| 123972 | 0.0341 | 9 |
| 123966 | 0.0190 | 4 |
| 123968 | 0.0127 | 4 |
| 123969 | 0.0084 | 4 |
| 123965 | 0.0034 | 1 |
| 123967 | 0.0027 | 1 |
Top tissues by expression
238 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| bone marrow | UBERON:0002371 | 91.56 | gold quality |
| monocyte | CL:0000576 | 91.35 | gold quality |
| leukocyte | CL:0000738 | 90.78 | gold quality |
| bone marrow cell | CL:0002092 | 89.00 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.76 | gold quality |
| blood | UBERON:0000178 | 83.23 | gold quality |
| granulocyte | CL:0000094 | 82.36 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 80.93 | gold quality |
| right lung | UBERON:0002167 | 75.00 | gold quality |
| vermiform appendix | UBERON:0001154 | 74.32 | gold quality |
| spleen | UBERON:0002106 | 71.65 | gold quality |
| caecum | UBERON:0001153 | 66.99 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 65.51 | gold quality |
| upper lobe of lung | UBERON:0008948 | 63.61 | gold quality |
| buccal mucosa cell | CL:0002336 | 59.56 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 57.71 | silver quality |
| lung | UBERON:0002048 | 56.99 | gold quality |
| myocardium | UBERON:0002349 | 56.26 | gold quality |
| left uterine tube | UBERON:0001303 | 55.58 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 54.92 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 54.84 | gold quality |
| gall bladder | UBERON:0002110 | 54.74 | gold quality |
| oviduct epithelium | UBERON:0004804 | 54.50 | gold quality |
| lymph node | UBERON:0000029 | 54.07 | gold quality |
| omental fat pad | UBERON:0010414 | 53.84 | gold quality |
| peritoneum | UBERON:0002358 | 53.80 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 53.62 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 53.61 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 53.24 | gold quality |
| fallopian tube | UBERON:0003889 | 50.95 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.37 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
69 targeting CLEC4D, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-20B-5P | 99.88 | 74.01 | 2621 |
| HSA-MIR-519D-3P | 99.88 | 73.97 | 2607 |
| HSA-MIR-526B-3P | 99.88 | 74.06 | 2587 |
| HSA-MIR-93-5P | 99.88 | 73.98 | 2606 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-12130 | 99.75 | 65.47 | 452 |
| HSA-MIR-6745 | 99.74 | 65.33 | 1321 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-3059-5P | 99.70 | 69.93 | 2491 |
| HSA-MIR-1251-3P | 99.64 | 67.21 | 1408 |
Literature-anchored findings (GeneRIF, showing 6)
- Cross-linking of the receptor leads to a rapid internalization suggesting that CLECSF8 constitutes and endocytic receptor. (PMID:14971047)
- CLECSF8 functions as an activation receptor on myeloid cells and associates with a novel adaptor molecule (PMID:22689578)
- Results show the molecular mechanism of glycolipid recognition through C-type lectin receptors, which may provide clues to rational design for effective adjuvants. (PMID:24101491)
- The Syk-Coupled C-Type Lectin Receptors Dectin-2 and Dectin-3 Are Involved in Paracoccidioides brasiliensis Recognition by Human Plasmacytoid Dendritic Cells. (PMID:29616019)
- The Mincle/Syk/NF-kappaB Signaling Circuit Is Essential for Maintaining the Protumoral Activities of Tumor-Associated Macrophages. (PMID:32532809)
- C-type lectin receptor Dectin3 deficiency balances the accumulation and function of FoxO1-mediated LOX-1(+) M-MDSCs in relieving lupus-like symptoms. (PMID:34480018)
Cross-species orthologs
21 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | asgr1c.2 | ENSDARG00000046092 |
| danio_rerio | si:dkey-61f9.1 | ENSDARG00000070414 |
| danio_rerio | asgr1a | ENSDARG00000095963 |
| danio_rerio | si:cabz01007816.2 | ENSDARG00000102537 |
| danio_rerio | asgr1b | ENSDARG00000103480 |
| danio_rerio | si:ch211-283g2.5 | ENSDARG00000108953 |
| danio_rerio | ENSDARG00000111755 | |
| danio_rerio | ENSDARG00000112842 | |
| mus_musculus | Clec4d | ENSMUSG00000030144 |
| rattus_norvegicus | Clec4d | ENSRNOG00000067848 |
| drosophila_melanogaster | tfc | FBGN0035199 |
| drosophila_melanogaster | CG14866 | FBGN0038315 |
| drosophila_melanogaster | lectin-46Cb | FBGN0040092 |
| drosophila_melanogaster | lectin-46Ca | FBGN0040093 |
| drosophila_melanogaster | lectin-33A | FBGN0040096 |
| drosophila_melanogaster | CG34033 | FBGN0054033 |
| caenorhabditis_elegans | clec-87 | WBGENE00007709 |
| caenorhabditis_elegans | clec-91 | WBGENE00014117 |
| caenorhabditis_elegans | WBGENE00016088 | |
| caenorhabditis_elegans | WBGENE00018692 | |
| caenorhabditis_elegans | WBGENE00019606 |
Paralogs (14): CD209 (ENSG00000090659), FCER2 (ENSG00000104921), CLEC4M (ENSG00000104938), CLEC4A (ENSG00000111729), CD207 (ENSG00000116031), CLEC10A (ENSG00000132514), ASGR1 (ENSG00000141505), CLEC4F (ENSG00000152672), ASGR2 (ENSG00000161944), CLEC4E (ENSG00000166523), CLEC4G (ENSG00000182566), CLEC17A (ENSG00000187912), CLEC4C (ENSG00000198178), CLEC6A (ENSG00000205846)
Protein
Protein identifiers
C-type lectin domain family 4 member D — Q8WXI8 (reviewed: Q8WXI8)
Alternative names: C-type lectin superfamily member 8, C-type lectin-like receptor 6, Dendritic cell-associated C-type lectin 3
All UniProt accessions (2): A6NHA5, Q8WXI8
UniProt curated annotations — full annotation on UniProt →
Function. Calcium-dependent lectin that acts as a pattern recognition receptor (PRR) of the innate immune system: recognizes damage-associated molecular patterns (DAMPs) of pathogen-associated molecular patterns (PAMPs) of bacteria and fungi. The PAMPs include alpha-mannans on C.albicans hypheas and mycobacterial trehalose 6,6’-dimycolate (TDM). Interacts with signaling adapter Fc receptor gamma chain/FCER1G, likely via CLEC4E, to form a functional complex in myeloid cells. Binding of mycobacterial TDM or C.albicans alpha-mannans to this receptor complex leads to phosphorylation of the immunoreceptor tyrosine-based activation motif (ITAM) of FCER1G, triggering activation of SYK, CARD9 and NF-kappa-B, consequently driving maturation of antigen-presenting cells and shaping antigen-specific priming of T-cells toward effector T-helper 1 and T-helper 17 cell subtypes. The heterodimer formed with CLEC6A is active against fungal infection. Functions as an endocytic receptor. May be involved in antigen uptake at the site of infection, either for clearance of the antigen, or for processing and further presentation to T-cells.
Subunit / interactions. Heterodimer with CLEC4E; disulfide-linked. CLEC4E acts as a bridge for interaction between CLEC4D and FCER1G to form a functional complex. Heterodimer with CLEC6A; this heterodimer forms a pattern recognition receptor (PRR) against fungal infection.
Subcellular location. Cell membrane.
Tissue specificity. Expressed weakly in peripheral blood leukocytes, bone marrow and spleen. Expression is confined mostly in monocytes and macrophage and seems to be up-regulated by IL-6, IL-10, TNF and IFN-gamma.
Induction. By autocrine inflammatory stimuli.
RefSeq proteins (1): NP_525126* (*=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 |
| IPR033989 | CD209-like_CTLD | Domain |
| IPR050111 | C-type_lectin/snaclec_domain | Family |
Pfam: PF00059
UniProt features (32 total): strand 11, binding site 4, glycosylation site 3, disulfide bond 3, topological domain 2, mutagenesis site 2, helix 2, chain 1, sequence variant 1, transmembrane region 1, turn 1, domain 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3WHD | X-RAY DIFFRACTION | 2.29 |
| 2LS8 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WXI8-F1 | 86.58 | 0.68 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (4): 173; 175; 195; 196
Disulfide bonds (3): 84–95, 112–207, 182–199
Glycosylation sites (3): 102, 111, 45
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 173 | no effect on already low affinity binding to trehalose-6,6’-dimycolate. |
| 175 | no effect on already low affinity binding to trehalose-6,6’-dimycolate. |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-5621480 | Dectin-2 family |
| R-HSA-6798695 | Neutrophil degranulation |
MSigDB gene sets: 185 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_DN, GOBP_REGULATION_OF_CELL_ACTIVATION, REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_SECRETORY_GRANULE, GOBP_T_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOCC_CELL_SURFACE, AP4_Q6, CAGCTG_AP4_Q5, GOBP_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, TCF4_Q5, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_T_CELL_DIFFERENTIATION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_MYELOID_LEUKOCYTE_ACTIVATION
GO Biological Process (9): adaptive immune response (GO:0002250), T cell differentiation involved in immune response (GO:0002292), positive regulation of myeloid dendritic cell activation (GO:0030887), Fc-gamma receptor signaling pathway (GO:0038094), defense response to bacterium (GO:0042742), positive regulation of canonical NF-kappaB signal transduction (GO:0043123), antifungal innate immune response (GO:0061760), immune system process (GO:0002376), innate immune response (GO:0045087)
GO Molecular Function (6): D-mannose binding (GO:0005537), carbohydrate binding (GO:0030246), immunoglobulin receptor binding (GO:0034987), pattern recognition receptor activity (GO:0038187), metal ion binding (GO:0046872), protein binding (GO:0005515)
GO Cellular Component (6): plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), specific granule membrane (GO:0035579), tertiary granule membrane (GO:0070821), ficolin-1-rich granule membrane (GO:0101003), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| C-type lectin receptors (CLRs) | 1 |
| Innate Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| immune response | 3 |
| secretory granule membrane | 3 |
| binding | 2 |
| tertiary granule | 2 |
| T cell activation involved in immune response | 1 |
| T cell differentiation | 1 |
| myeloid dendritic cell activation | 1 |
| positive regulation of leukocyte activation | 1 |
| regulation of myeloid dendritic cell activation | 1 |
| Fc receptor signaling pathway | 1 |
| defense response | 1 |
| response to bacterium | 1 |
| canonical NF-kappaB signal transduction | 1 |
| regulation of canonical NF-kappaB signal transduction | 1 |
| positive regulation of intracellular signal transduction | 1 |
| innate immune response | 1 |
| defense response to fungus | 1 |
| biological_process | 1 |
| defense response to symbiont | 1 |
| monosaccharide binding | 1 |
| signaling receptor binding | 1 |
| signaling receptor activity | 1 |
| cation binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| plasma membrane | 1 |
| cell surface | 1 |
| side of membrane | 1 |
| specific granule | 1 |
| ficolin-1-rich granule | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
936 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CLEC4D | CLEC6A | Q6EIG7 | 950 |
| CLEC4D | FCER1G | P30273 | 851 |
| CLEC4D | SYK | P43405 | 798 |
| CLEC4D | CLEC7A | Q9BXN2 | 798 |
| CLEC4D | CLEC4E | Q9ULY5 | 739 |
| CLEC4D | CARD9 | Q9H257 | 706 |
| CLEC4D | CLEC9A | Q6UXN8 | 698 |
| CLEC4D | CLEC1A | Q8NC01 | 578 |
| CLEC4D | PRRG4 | Q9BZD6 | 572 |
| CLEC4D | MALT1 | Q9UDY8 | 521 |
| CLEC4D | BCL10 | O95999 | 517 |
| CLEC4D | IL6 | P05231 | 517 |
| CLEC4D | CLEC12A | Q5QGZ9 | 493 |
| CLEC4D | CLEC12B | Q2HXU8 | 458 |
| CLEC4D | VNN1 | O95497 | 438 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ACTN2 | CLEC4D | psi-mi:“MI:0915”(physical association) | 0.560 |
| JAGN1 | CLEC4D | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZDHHC22 | CLEC4D | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANKRD46 | CLEC4D | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZDHHC22 | CLEC4D | psi-mi:“MI:0915”(physical association) | 0.000 |
| ANKRD46 | CLEC4D | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (313): CLEC4D (Two-hybrid), JAGN1 (Two-hybrid), ZDHHC22 (Two-hybrid), ANKRD46 (Two-hybrid), MYO1C (Affinity Capture-MS), PGRMC1 (Affinity Capture-MS), CLIC1 (Affinity Capture-MS), IPO5 (Affinity Capture-MS), CLGN (Affinity Capture-MS), SPTBN2 (Affinity Capture-MS), SEC16A (Affinity Capture-MS), ARPC3 (Affinity Capture-MS), SPINT2 (Affinity Capture-MS), MYO1B (Affinity Capture-MS), LANCL1 (Affinity Capture-MS)
ESM2 similar proteins: A4KWA5, A4KWA6, A4KWA8, B2KG20, D4AD02, O54709, O70215, P26717, P26718, P27471, P27811, P27814, P37217, P61252, Q07108, Q07444, Q0H8B9, Q149M0, Q504P2, Q5DT36, Q5DT37, Q5DT39, Q5M9I1, Q5RFR2, Q60652, Q60654, Q68D85, Q6QLQ4, Q6UXN8, Q80XD9, Q80ZC8, Q8C1T8, Q8MI05, Q8MJH1, Q8VBX4, Q8VI21, Q8WXI8, Q91V08, Q925N7, Q95MI4
Diamond homologs: A5PMY6, A6QP79, D3ZWT9, O14594, P02706, P02707, P05451, P06734, P07306, P07307, P07897, P07898, P08290, P08661, P10716, P10758, P11226, P13608, P13611, P16112, P19999, P20693, P22897, P24721, P34927, P41317, P43137, P48304, P49300, P49301, P55066, P55067, P60883, P70194, P81282, P82596, P86854, Q28343, Q28670, Q29011
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
44 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 35 |
| Likely benign | 4 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
775 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:8513761:G:GG | donor_gain | 1.0000 |
| 12:8515234:A:AG | acceptor_gain | 1.0000 |
| 12:8515235:G:GG | acceptor_gain | 1.0000 |
| 12:8518282:GT:G | donor_gain | 1.0000 |
| 12:8518280:GAGT:G | donor_gain | 0.9900 |
| 12:8519002:A:AG | acceptor_gain | 0.9900 |
| 12:8519002:ACTT:A | acceptor_gain | 0.9900 |
| 12:8520338:GAGT:G | donor_gain | 0.9900 |
| 12:8520340:GT:G | donor_gain | 0.9900 |
| 12:8521122:A:AG | acceptor_gain | 0.9900 |
| 12:8521123:G:GG | acceptor_gain | 0.9900 |
| 12:8513757:AAACG:A | donor_loss | 0.9800 |
| 12:8513759:ACG:A | donor_loss | 0.9800 |
| 12:8513760:CG:C | donor_loss | 0.9800 |
| 12:8513761:G:C | donor_loss | 0.9800 |
| 12:8513762:T:G | donor_loss | 0.9800 |
| 12:8513763:GAGTA:G | donor_loss | 0.9800 |
| 12:8513764:AGTAC:A | donor_loss | 0.9800 |
| 12:8515227:T:TA | acceptor_gain | 0.9800 |
| 12:8519005:T:TA | acceptor_gain | 0.9800 |
| 12:8519008:G:A | acceptor_gain | 0.9800 |
| 12:8520342:G:GG | donor_gain | 0.9800 |
| 12:8521118:TTTCA:T | acceptor_loss | 0.9800 |
| 12:8521119:TTCA:T | acceptor_loss | 0.9800 |
| 12:8521120:TCA:T | acceptor_loss | 0.9800 |
| 12:8521121:CAGA:C | acceptor_loss | 0.9800 |
| 12:8521122:AGAT:A | acceptor_loss | 0.9800 |
| 12:8513759:AC:A | donor_gain | 0.9700 |
| 12:8515234:AGT:A | acceptor_gain | 0.9700 |
| 12:8515235:GTG:G | acceptor_gain | 0.9700 |
AlphaMissense
1441 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:8519098:A:C | S108R | 0.937 |
| 12:8519100:T:A | S108R | 0.937 |
| 12:8519100:T:G | S108R | 0.937 |
| 12:8519091:G:C | W105C | 0.924 |
| 12:8519091:G:T | W105C | 0.924 |
| 12:8520265:T:C | F142L | 0.917 |
| 12:8520267:C:A | F142L | 0.917 |
| 12:8520267:C:G | F142L | 0.917 |
| 12:8520309:G:C | W156C | 0.908 |
| 12:8520309:G:T | W156C | 0.908 |
| 12:8521199:G:C | W192C | 0.904 |
| 12:8521199:G:T | W192C | 0.904 |
| 12:8519040:G:C | W88C | 0.901 |
| 12:8519040:G:T | W88C | 0.901 |
| 12:8521205:G:C | W194C | 0.895 |
| 12:8521205:G:T | W194C | 0.895 |
| 12:8521130:G:C | W169C | 0.888 |
| 12:8521130:G:T | W169C | 0.888 |
| 12:8519047:T:C | F91L | 0.885 |
| 12:8519049:C:A | F91L | 0.885 |
| 12:8519049:C:G | F91L | 0.885 |
| 12:8520303:G:C | W154C | 0.882 |
| 12:8520303:G:T | W154C | 0.882 |
| 12:8520229:T:C | F130L | 0.869 |
| 12:8520231:T:A | F130L | 0.869 |
| 12:8520231:T:G | F130L | 0.869 |
| 12:8521242:T:A | C207S | 0.869 |
| 12:8521243:G:C | C207S | 0.869 |
| 12:8521203:T:A | W194R | 0.863 |
| 12:8521203:T:C | W194R | 0.863 |
dbSNP variants (sampled 300 via entrez): RS1000013317 (12:8530297 G>C), RS1000033961 (12:8514735 C>T), RS1000218007 (12:8512616 C>T), RS1000246294 (12:8517468 G>A,T), RS1000460248 (12:8511620 G>C), RS1000923363 (12:8522711 A>T), RS1000954094 (12:8523090 G>A), RS1001157723 (12:8528559 A>C), RS1001195402 (12:8524331 C>G), RS1001231782 (12:8512708 A>T), RS1001266200 (12:8528818 G>A), RS1001300101 (12:8518788 G>A), RS1001422210 (12:8528882 T>C), RS1001605625 (12:8519132 T>C), RS1001806911 (12:8512900 G>A,T)
Disease associations
OMIM: gene MIM:609964 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 3 |
| alpha phellandrene | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| sulforaphane | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Lipopolysaccharides | increases expression | 1 |
| Nickel | increases expression | 1 |
| Paraquat | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Nanotubes, Carbon | increases expression | 1 |
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.