CD180
gene geneOn this page
Also known as RP105Ly78
Summary
CD180 (CD180 molecule, HGNC:6726) is a protein-coding gene on chromosome 5q12.3, encoding CD180 antigen (Q99467). Pattern recognition receptor predominantly expressed on B-cells, dendritic cells, and certain monocytes/macrophages, structurally resembling Toll-like receptors (TLRs) that plays a role in modulating immune responses.
CD180 is a cell surface molecule consisting of extracellular leucine-rich repeats (LRR) and a short cytoplasmic tail. The extracellular LRR is associated with a molecule called MD-1 and form the cell surface receptor complex, RP105/MD-1. It belongs to the family of pathogen receptors, Toll-like receptors (TLR). RP105/MD1, by working in concert with TLR4, controls B cell recognition and signaling of lipopolysaccharide (LPS), a membrane constituent of Gram-negative bacteria.
Source: NCBI Gene 4064 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 106 total
- MANE Select transcript:
NM_005582
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6726 |
| Approved symbol | CD180 |
| Name | CD180 molecule |
| Location | 5q12.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RP105, Ly78 |
| Ensembl gene | ENSG00000134061 |
| Ensembl biotype | protein_coding |
| OMIM | 602226 |
| Entrez | 4064 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 1 protein_coding, 1 retained_intron
ENST00000256447, ENST00000515027
RefSeq mRNA: 1 — MANE Select: NM_005582
NM_005582
CCDS: CCDS3992
Canonical transcript exons
ENST00000256447 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000750451 | 67185851 | 67186017 |
| ENSE00000837138 | 67179613 | 67184585 |
| ENSE00000837139 | 67196552 | 67196799 |
Expression profiles
Bgee: expression breadth ubiquitous, 157 present calls, max score 86.70.
FANTOM5 (CAGE): breadth broad, TPM avg 5.8438 / max 446.0082, expressed in 413 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 61971 | 5.8438 | 413 |
Top tissues by expression
279 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 86.70 | silver quality |
| lymph node | UBERON:0000029 | 85.69 | gold quality |
| leukocyte | CL:0000738 | 85.47 | gold quality |
| monocyte | CL:0000576 | 85.44 | gold quality |
| mononuclear cell | CL:0000842 | 85.26 | gold quality |
| granulocyte | CL:0000094 | 83.26 | gold quality |
| spleen | UBERON:0002106 | 80.90 | gold quality |
| vermiform appendix | UBERON:0001154 | 80.21 | gold quality |
| bone marrow cell | CL:0002092 | 77.46 | gold quality |
| bone marrow | UBERON:0002371 | 76.87 | gold quality |
| caecum | UBERON:0001153 | 76.48 | gold quality |
| blood | UBERON:0000178 | 76.18 | gold quality |
| superficial temporal artery | UBERON:0001614 | 74.85 | silver quality |
| trabecular bone tissue | UBERON:0002483 | 74.50 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 74.35 | silver quality |
| tonsil | UBERON:0002372 | 73.43 | gold quality |
| triceps brachii | UBERON:0001509 | 70.19 | gold quality |
| gluteal muscle | UBERON:0002000 | 70.07 | gold quality |
| ileal mucosa | UBERON:0000331 | 69.83 | silver quality |
| rectum | UBERON:0001052 | 69.68 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 69.66 | silver quality |
| olfactory bulb | UBERON:0002264 | 67.90 | gold quality |
| type B pancreatic cell | CL:0000169 | 67.63 | gold quality |
| upper arm skin | UBERON:0004263 | 67.39 | gold quality |
| placenta | UBERON:0001987 | 66.73 | gold quality |
| periodontal ligament | UBERON:0008266 | 66.25 | gold quality |
| diaphragm | UBERON:0001103 | 66.07 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 65.99 | gold quality |
| buccal mucosa cell | CL:0002336 | 65.93 | gold quality |
| gall bladder | UBERON:0002110 | 65.60 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.70 |
| E-CURD-89 | no | 109.68 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
28 targeting CD180, 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-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-323A-3P | 99.79 | 70.30 | 1739 |
| HSA-MIR-1296-3P | 99.72 | 64.04 | 636 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
| HSA-MIR-4472 | 99.56 | 66.08 | 1478 |
| HSA-MIR-8064 | 99.45 | 66.92 | 875 |
| HSA-MIR-6828-5P | 99.31 | 69.21 | 1433 |
| HSA-MIR-3160-5P | 99.28 | 69.07 | 1938 |
| HSA-MIR-3191-5P | 99.24 | 66.52 | 1722 |
| HSA-MIR-6846-5P | 98.81 | 65.86 | 1121 |
| HSA-MIR-6848-5P | 98.81 | 65.49 | 1126 |
| HSA-MIR-4646-3P | 98.65 | 66.98 | 693 |
| HSA-MIR-518C-5P | 98.53 | 69.20 | 1640 |
| HSA-MIR-3928-5P | 98.50 | 67.48 | 980 |
| HSA-MIR-6806-3P | 98.50 | 67.31 | 980 |
| HSA-MIR-326 | 98.25 | 66.44 | 1565 |
| HSA-MIR-4433A-3P | 97.75 | 62.82 | 1435 |
| HSA-MIR-1226-3P | 97.51 | 66.32 | 1063 |
| HSA-MIR-6796-5P | 95.37 | 66.08 | 1120 |
| HSA-MIR-3672 | 94.46 | 65.67 | 646 |
| HSA-MIR-6864-3P | 94.46 | 65.97 | 625 |
Literature-anchored findings (GeneRIF, showing 23)
- RP105 regulated TLR4 signaling in dendritic cells (PMID:15852007)
- Expression of RP105 and TLR4 is altered on PBC monocytes, which appear to be hypersensitive to LPS, resulting in increased secretion of pro-inflammatory cytokines. (PMID:17448566)
- RP105 cross-linkaage enhanced B-lymphocyte proliferation, TLR9 expression, and growth. (PMID:20133206)
- Lower mRNA expression of LY64 was detected in gingival tissue of chronic periodontitis patients compared to healthy controls. (PMID:20233331)
- Data show that CD180, CD284 and CD14 expression is higher on normal B cells than on CD19+ B-cell chronic lymphocytic leukaemia cells. (PMID:20430725)
- Both mouse and human RP105/MD-1 exhibit dimerization of the 1:1 RP105/MD-1 complex, demonstrating a novel organization. (PMID:21959264)
- IL-4 failed to up-regulate expression of RP105 at the cell surface. In conclusion, the anti-inflammatory actions of IL-4 occur independently of IL-10, RP105, and the kinase activity of RIPK2 (PMID:22484241)
- Data indicate that TLR9-signaling as a crucial factor for turning retinoic acid (RA) into a strong stimulator of RP105-mediated B-cell proliferation. (PMID:23103284)
- we address of monocytes functional status through assessment of the patterns of expression of Fcgamma receptors CD64, CD32, CD16 and CD180 receptor on monocytes from CLL patients and healthy individuals using specific mAbs and flow cytometry. (PMID:25802446)
- Since MEC1 cells are derived from a CLL patient with mutated IGVH genes (M-CLL) negative correlation between CD180 and CD32 expression on cycling MEC1 cells could be limited to M-CLL. (PMID:25879560)
- the close association between the increased proportion of CD180-negative B cells and the activation of IFN-alpha signaling in Systemic lupus erythematosus, is reported. (PMID:26277892)
- By associating with PIM-1L, CD180 can thus obtain autonomous signaling capabilities, and this complex is then channeling inflammatory signals into B cell survival programs (PMID:26555723)
- CD180 expression is significantly upregulated in human masticatory mucosa during wound healing (PMID:28005267)
- Our data strongly support the use of CCR2 and CD180 mRNAs as whole blood pharmacodynamic (PD)biomarkers for BRD4 inhibitors, especially in situations where paired tumor biopsies are unavailable. In addition, they can be used as tumor-based PD biomarkers for hematologic tumors. (PMID:28073847)
- combination of signals via CD150 and CD180 leads to blocking of pro-survival pathways that may be a restraining factor for neoplastic CLL B cells propagation in more than 50% of CLL cases where these receptors are coexpressed (PMID:28982149)
- Calcitriol regulates immune genes CD14 and CD180 to modulate LPS responses in human trophoblasts. (PMID:29089453)
- CD150 and CD180 receptors may modulate transcriptional program in lymphocytic leukemia cells by regulating the transcription factor expression levels (PMID:29284783)
- Silencing Cd180 results in increased phagocytosis while tempering the production of the proinflammatory cytokine TNF during Borrelia burgdorferi infection. (PMID:29511161)
- The relative expression levels of CD148 and CD180 on clonal B cells and CD148/CD180 median fluorescence intensity ratios are useful in the characterization of mature B cell lymphoid neoplasms infiltrating blood and bone marrow - Results from a single centre pilot study. (PMID:33455071)
- CD150 and CD180 are negative regulators of IL-10 expression and secretion in chronic lymphocytic leukemia B cells. (PMID:33904315)
- Toll-Like Receptor Homolog CD180 Expression Is Diminished on Natural Autoantibody-Producing B Cells of Patients with Autoimmune CNS Disorders. (PMID:34124274)
- Cell surface expression of human RP105 depends on N-glycosylation of MD-1. (PMID:35849076)
- The role of CD180 in hematological malignancies and inflammatory disorders. (PMID:37460961)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cd180 | ENSDARG00000093750 |
| mus_musculus | Cd180 | ENSMUSG00000021624 |
| rattus_norvegicus | Cd180 | ENSRNOG00000010266 |
Paralogs (22): IGFALS (ENSG00000099769), TLR8 (ENSG00000101916), LRRC17 (ENSG00000128606), RXFP2 (ENSG00000133105), TLR4 (ENSG00000136869), TLR2 (ENSG00000137462), LRRC32 (ENSG00000137507), LRRC3 (ENSG00000160233), LRRC53 (ENSG00000162621), TLR3 (ENSG00000164342), VASN (ENSG00000168140), RXFP1 (ENSG00000171509), NRROS (ENSG00000174004), TLR10 (ENSG00000174123), TLR1 (ENSG00000174125), TLR6 (ENSG00000174130), LRRC3B (ENSG00000179796), TSKU (ENSG00000182704), TLR5 (ENSG00000187554), TLR7 (ENSG00000196664), LRIT2 (ENSG00000204033), LRRC3C (ENSG00000204913)
Protein
Protein identifiers
CD180 antigen — Q99467 (reviewed: Q99467)
Alternative names: Lymphocyte antigen 64, Radioprotective 105 kDa protein
All UniProt accessions (1): Q99467
UniProt curated annotations — full annotation on UniProt →
Function. Pattern recognition receptor predominantly expressed on B-cells, dendritic cells, and certain monocytes/macrophages, structurally resembling Toll-like receptors (TLRs) that plays a role in modulating immune responses. While ressembling a TLR, lacks the intracellular TIR (Toll/IL-1R) signaling domain and thus does not directly transduce signals. Instead, modulates immune responses, often in conjunction with other TLRs. For example, in cooperation with MD-1/LY86, interacts directly with the TLR4 signaling complex, inhibiting its ability to bind microbial ligand.
Subunit / interactions. M-shaped tetramer of two CD180-LY86 heterodimers. Interacts with TLR4, this interaction inhibits TLR4-mediated signaling pathway upon ligand binding.
Subcellular location. Cell membrane.
Tissue specificity. Expressed mainly on mature peripherical B cells. Detected in spleen, lymph node and appendix. Not detected in pre-B and -T cells.
Similarity. Belongs to the Toll-like receptor family.
RefSeq proteins (1): NP_005573* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000483 | Cys-rich_flank_reg_C | Domain |
| IPR001611 | Leu-rich_rpt | Repeat |
| IPR003591 | Leu-rich_rpt_typical-subtyp | Repeat |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR041281 | LRR_11 | Repeat |
Pfam: PF13855, PF18831
UniProt features (104 total): strand 30, repeat 19, turn 16, helix 13, glycosylation site 11, sequence variant 7, topological domain 2, domain 2, signal peptide 1, chain 1, transmembrane region 1, sequence conflict 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3B2D | X-RAY DIFFRACTION | 2.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99467-F1 | 93.27 | 0.89 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (11): 34, 53, 70, 78, 201, 234, 244, 394, 402, 451, 573
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-166016 | Toll Like Receptor 4 (TLR4) Cascade |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-168898 | Toll-like Receptor Cascades |
MSigDB gene sets: 189 (showing top):
TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_B_CELL_ACTIVATION, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_B_CELL_PROLIFERATION, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_UP, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_LEUKOCYTE_PROLIFERATION, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_REGULATION_OF_LIPOPOLYSACCHARIDE_MEDIATED_SIGNALING_PATHWAY
GO Biological Process (8): B cell proliferation involved in immune response (GO:0002322), inflammatory response (GO:0006954), positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666), B cell proliferation (GO:0042100), innate immune response (GO:0045087), cellular response to lipopolysaccharide (GO:0071222), immune system process (GO:0002376), lipopolysaccharide-mediated signaling pathway (GO:0031663)
GO Molecular Function (3): lipopolysaccharide immune receptor activity (GO:0001875), signaling receptor activity (GO:0038023), protein binding (GO:0005515)
GO Cellular Component (5): nucleoplasm (GO:0005654), nucleolus (GO:0005730), plasma membrane (GO:0005886), mitotic spindle (GO:0072686), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Toll-like Receptor Cascades | 1 |
| Immune System | 1 |
| Innate Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| immune response | 2 |
| lipopolysaccharide-mediated signaling pathway | 2 |
| nuclear lumen | 2 |
| cellular anatomical structure | 2 |
| B cell activation involved in immune response | 1 |
| B cell proliferation | 1 |
| defense response | 1 |
| positive regulation of response to biotic stimulus | 1 |
| positive regulation of signal transduction | 1 |
| regulation of lipopolysaccharide-mediated signaling pathway | 1 |
| positive regulation of response to external stimulus | 1 |
| B cell activation | 1 |
| lymphocyte proliferation | 1 |
| defense response to symbiont | 1 |
| response to lipopolysaccharide | 1 |
| cellular response to molecule of bacterial origin | 1 |
| cellular response to lipid | 1 |
| cellular response to oxygen-containing compound | 1 |
| biological_process | 1 |
| cell surface receptor signaling pathway | 1 |
| cellular response to lipopolysaccharide | 1 |
| lipopolysaccharide binding | 1 |
| pattern recognition receptor activity | 1 |
| molecular transducer activity | 1 |
| binding | 1 |
| intracellular membraneless organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| spindle | 1 |
Protein interactions and networks
STRING
1510 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CD180 | LY86 | O95711 | 999 |
| CD180 | LY96 | Q9Y6Y9 | 861 |
| CD180 | TLR2 | O60603 | 853 |
| CD180 | TLR4 | O00206 | 813 |
| CD180 | CD19 | P15391 | 576 |
| CD180 | GHITM | Q9H3K2 | 552 |
| CD180 | CLEC9A | Q6UXN8 | 542 |
| CD180 | PROSER2 | Q86WR7 | 539 |
| CD180 | TLR1 | Q15399 | 507 |
| CD180 | RIGI | O95786 | 500 |
| CD180 | CD37 | P11049 | 492 |
| CD180 | CD74 | P04233 | 482 |
| CD180 | CD79A | P11912 | 477 |
| CD180 | CD48 | P09326 | 476 |
| CD180 | ITGAM | P11215 | 476 |
| CD180 | FATE1 | Q969F0 | 476 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CD180 | LY86 | psi-mi:“MI:0915”(physical association) | 0.540 |
| CD180 | LY86 | psi-mi:“MI:0407”(direct interaction) | 0.540 |
BioGRID (3): CD180 (Affinity Capture-Western), LY86 (Affinity Capture-Western), CD180 (Affinity Capture-MS)
ESM2 similar proteins: A4D1F6, A4IIK1, A6H6A4, A6NIV6, A6NM36, C0STK7, D3ZXS4, F1R6I3, F6R2G2, P14605, Q09562, Q32KX5, Q38SD2, Q3TX51, Q3UHC2, Q3UV48, Q3ZC49, Q4R6F0, Q54AX5, Q58A48, Q5G5E0, Q62192, Q65YW8, Q65Z91, Q66HD6, Q6AXL3, Q6GLE8, Q6GM71, Q6R5N8, Q6ZNQ3, Q7Z2Q7, Q86X40, Q8BGI7, Q8C0R9, Q8N456, Q8VDB8, Q96DD0, Q99467, Q99MB1, Q9BYS8
Diamond homologs: C0STK7, O93233, P02750, P58727, Q5PQV5, Q8C110, Q99467, Q9H5Y7, Q9MYW3, A3KNN3, A4IIW9, A6NJW4, A8WHP9, E9Q7T7, O02833, O15335, O55226, O70210, O75093, O75094, O88279, O88280, O94769, O94813, P0C6S8, P24014, P35858, P35859, P56400, P70389, Q27972, Q5FW85, Q5RDJ4, Q62192, Q66HV9, Q6NUI6, Q6R5N8, Q7M6Z0, Q80TR4, Q80WD0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
106 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 91 |
| Likely benign | 6 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
390 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:67196547:CTCA:C | donor_loss | 1.0000 |
| 5:67196548:TCA:T | donor_loss | 1.0000 |
| 5:67196549:CA:C | donor_loss | 1.0000 |
| 5:67184587:T:C | acceptor_gain | 0.9900 |
| 5:67185845:ACAT:A | donor_loss | 0.9900 |
| 5:67185846:CATA:C | donor_loss | 0.9900 |
| 5:67185847:ATA:A | donor_loss | 0.9900 |
| 5:67185848:TAC:T | donor_loss | 0.9900 |
| 5:67185849:ACC:A | donor_loss | 0.9900 |
| 5:67186014:CTTT:C | acceptor_gain | 0.9900 |
| 5:67186017:TC:T | acceptor_loss | 0.9900 |
| 5:67186018:C:CA | acceptor_loss | 0.9900 |
| 5:67186018:C:CC | acceptor_gain | 0.9900 |
| 5:67196550:A:AC | donor_gain | 0.9900 |
| 5:67196551:C:CC | donor_gain | 0.9900 |
| 5:67196551:CCT:C | donor_gain | 0.9900 |
| 5:67184585:CCT:C | acceptor_gain | 0.9800 |
| 5:67185849:A:AC | donor_gain | 0.9800 |
| 5:67185850:C:CC | donor_gain | 0.9800 |
| 5:67186016:TT:T | acceptor_gain | 0.9800 |
| 5:67184583:CACC:C | acceptor_loss | 0.9700 |
| 5:67184586:CTT:C | acceptor_loss | 0.9700 |
| 5:67184587:T:TC | acceptor_gain | 0.9700 |
| 5:67185850:CCTA:C | donor_gain | 0.9700 |
| 5:67186015:TTT:T | acceptor_gain | 0.9700 |
| 5:67196551:CCTCA:C | donor_gain | 0.9700 |
| 5:67184583:CACCT:C | acceptor_gain | 0.9600 |
| 5:67186021:A:C | acceptor_gain | 0.9600 |
| 5:67184584:ACCT:A | acceptor_gain | 0.9500 |
| 5:67184585:CCTT:C | acceptor_gain | 0.9500 |
AlphaMissense
4432 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:67184510:A:C | N111K | 0.971 |
| 5:67184510:A:T | N111K | 0.971 |
| 5:67184454:A:G | L130P | 0.962 |
| 5:67183023:C:G | C607S | 0.960 |
| 5:67183024:A:T | C607S | 0.960 |
| 5:67185919:A:C | N63K | 0.960 |
| 5:67185919:A:T | N63K | 0.960 |
| 5:67184366:G:C | N159K | 0.956 |
| 5:67184366:G:T | N159K | 0.956 |
| 5:67183641:A:G | L401S | 0.953 |
| 5:67183101:C:G | C581S | 0.952 |
| 5:67183102:A:T | C581S | 0.952 |
| 5:67183569:A:T | L425H | 0.951 |
| 5:67184584:A:G | C87R | 0.950 |
| 5:67184498:G:C | F115L | 0.949 |
| 5:67184498:G:T | F115L | 0.949 |
| 5:67184500:A:G | F115L | 0.949 |
| 5:67183102:A:G | C581R | 0.948 |
| 5:67184582:G:C | C87W | 0.946 |
| 5:67184310:A:G | L178P | 0.945 |
| 5:67184294:A:C | N183K | 0.944 |
| 5:67184294:A:T | N183K | 0.944 |
| 5:67183422:A:G | L474P | 0.941 |
| 5:67183635:A:G | L403P | 0.941 |
| 5:67183794:A:G | L350P | 0.940 |
| 5:67183122:A:G | L574S | 0.937 |
| 5:67183070:C:A | W591C | 0.936 |
| 5:67183070:C:G | W591C | 0.936 |
| 5:67183494:A:G | L450P | 0.936 |
| 5:67185922:A:C | F62L | 0.936 |
dbSNP variants (sampled 300 via entrez): RS1000525980 (5:67194825 A>C), RS1000688290 (5:67188604 T>C), RS1001040593 (5:67189666 T>C), RS1001097078 (5:67189268 T>C), RS1001737672 (5:67189141 C>G), RS1001928740 (5:67195454 G>A), RS1002487700 (5:67183527 C>T), RS1002551860 (5:67191442 G>A,T), RS1002620673 (5:67184509 G>A), RS1002624777 (5:67190049 A>G,T), RS1002704638 (5:67190592 G>A), RS1002758252 (5:67190956 G>A,T), RS1003225705 (5:67180462 C>A), RS1003339266 (5:67197086 G>A), RS1003442374 (5:67180276 C>T)
Disease associations
OMIM: gene MIM:602226 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003875_51 | Gut microbiota (bacterial taxa) | 4.000000e-09 |
| GCST005184_10 | Common carotid intima-media thickness in HIV infection | 1.000000e-06 |
| GCST006269_1226 | General cognitive ability | 5.000000e-08 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007874 | gut microbiome measurement |
| EFO:0007883 | taxonomic microbiome measurement |
| EFO:0004337 | intelligence |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Nickel | decreases expression, increases expression | 3 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sulforaphane | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression, affects cotreatment, decreases expression, affects response to substance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Norethindrone Acetate | affects cotreatment, decreases expression | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Cadmium | increases abundance, decreases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Lipopolysaccharides | decreases expression, affects response to substance, increases expression, affects cotreatment | 1 |
| Dronabinol | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Fluorescein-5-isothiocyanate | affects binding | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 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.