LY75
geneOn this page
Also known as DEC-205CLEC13BCD205
Summary
LY75 (lymphocyte antigen 75, HGNC:6729) is a protein-coding gene on chromosome 2q24.2, encoding Lymphocyte antigen 75 (O60449). Acts as an endocytic receptor to direct captured antigens from the extracellular space to a specialized antigen-processing compartment.
Predicted to enable signaling receptor activity. Predicted to be involved in immune response and inflammatory response. Located in extracellular exosome.
Source: NCBI Gene 4065 — RefSeq curated summary.
At a glance
- GWAS associations: 38
- Clinical variants (ClinVar): 35 total
- Druggable target: yes
- MANE Select transcript:
NM_002349
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6729 |
| Approved symbol | LY75 |
| Name | lymphocyte antigen 75 |
| Location | 2q24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DEC-205, CLEC13B, CD205 |
| Ensembl gene | ENSG00000054219 |
| Ensembl biotype | protein_coding |
| OMIM | 604524 |
| Entrez | 4065 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 3 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000263636, ENST00000471164, ENST00000484559, ENST00000492955, ENST00000971950, ENST00000971951
RefSeq mRNA: 1 — MANE Select: NM_002349
NM_002349
CCDS: CCDS2211
Canonical transcript exons
ENST00000263636 — 35 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001187455 | 159803355 | 159805222 |
| ENSE00003472109 | 159810526 | 159810675 |
| ENSE00003478680 | 159875444 | 159875643 |
| ENSE00003490945 | 159819726 | 159819920 |
| ENSE00003507252 | 159864839 | 159864920 |
| ENSE00003507571 | 159878324 | 159878493 |
| ENSE00003512448 | 159808449 | 159808571 |
| ENSE00003517893 | 159853630 | 159853697 |
| ENSE00003532434 | 159834044 | 159834211 |
| ENSE00003533081 | 159854360 | 159854535 |
| ENSE00003536202 | 159816806 | 159817032 |
| ENSE00003542279 | 159904589 | 159904756 |
| ENSE00003546901 | 159831670 | 159831786 |
| ENSE00003548427 | 159893914 | 159894084 |
| ENSE00003555833 | 159872451 | 159872593 |
| ENSE00003565521 | 159849980 | 159850140 |
| ENSE00003569345 | 159898688 | 159899059 |
| ENSE00003572344 | 159835480 | 159835645 |
| ENSE00003572426 | 159885153 | 159885293 |
| ENSE00003572893 | 159890213 | 159890377 |
| ENSE00003575606 | 159842245 | 159842374 |
| ENSE00003582585 | 159806973 | 159807140 |
| ENSE00003605527 | 159850362 | 159850467 |
| ENSE00003617469 | 159840729 | 159840955 |
| ENSE00003617814 | 159879259 | 159879369 |
| ENSE00003627357 | 159882124 | 159882315 |
| ENSE00003638768 | 159878633 | 159878721 |
| ENSE00003658457 | 159854904 | 159854939 |
| ENSE00003661457 | 159815405 | 159815573 |
| ENSE00003669149 | 159860821 | 159860889 |
| ENSE00003677666 | 159852201 | 159852340 |
| ENSE00003684310 | 159858362 | 159858476 |
| ENSE00003688157 | 159886420 | 159886530 |
| ENSE00003690451 | 159881083 | 159881240 |
| ENSE00003691260 | 159853273 | 159853352 |
Expression profiles
Bgee: expression breadth ubiquitous, 242 present calls, max score 97.01.
FANTOM5 (CAGE): breadth broad, TPM avg 8.6491 / max 470.5980, expressed in 804 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 31457 | 8.6491 | 804 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| thymus | UBERON:0002370 | 97.01 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 96.09 | gold quality |
| jejunal mucosa | UBERON:0000399 | 95.22 | gold quality |
| bronchial epithelial cell | CL:0002328 | 94.36 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 93.72 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 93.15 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 92.90 | gold quality |
| bronchus | UBERON:0002185 | 92.75 | gold quality |
| upper leg skin | UBERON:0004262 | 91.28 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 91.18 | gold quality |
| colonic mucosa | UBERON:0000317 | 91.14 | gold quality |
| mammary duct | UBERON:0001765 | 90.92 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 90.72 | gold quality |
| pancreatic ductal cell | CL:0002079 | 90.53 | gold quality |
| bone marrow cell | CL:0002092 | 90.08 | gold quality |
| vermiform appendix | UBERON:0001154 | 90.08 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 89.99 | gold quality |
| lymph node | UBERON:0000029 | 89.78 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 89.42 | gold quality |
| bone marrow | UBERON:0002371 | 89.37 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 89.08 | gold quality |
| duodenum | UBERON:0002114 | 88.88 | gold quality |
| mononuclear cell | CL:0000842 | 88.44 | gold quality |
| leukocyte | CL:0000738 | 88.41 | gold quality |
| monocyte | CL:0000576 | 88.34 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 87.61 | gold quality |
| caecum | UBERON:0001153 | 86.53 | gold quality |
| rectum | UBERON:0001052 | 86.44 | gold quality |
| tonsil | UBERON:0002372 | 85.57 | gold quality |
| ileal mucosa | UBERON:0000331 | 84.96 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.98 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
123 targeting LY75, 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-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
Literature-anchored findings (GeneRIF, showing 23)
- Hodgkin’s lymphoma cell lines express a fusion protein encoded by intergenically spliced mRNA for the multilectin receptor DEC-205 (CD205) and a novel C-type lectin receptor DCL-1 (PMID:12824192)
- DCs and DEC-205 can cross-present several different peptides from a single protein. Data supports testing of alphaDEC-205 fusion mAb as a protein-based vaccine. (PMID:17229838)
- CD205 is a sensitive and specific marker for thymoma but its sensitivity to thymic carcinoma is lower than CD5 and CD117. (PMID:17592270)
- targeting EBV nuclear antigen 1 to human DEC-205 receptor, in the presence of the DC maturation stimulus poly(I:C), expanded EBNA1-specific CD4 and CD8 memory T cells; these lymphocytes control the outgrowth of autologous EBV-infected B cells (PMID:18519810)
- oxLDL uptake by DCs is mediated by the scavenger-receptors LOX-1, CD36, and CD205 (PMID:19203752)
- Induction of LY75 antigen is associated with relapsed chronic myeloid leukemia. (PMID:19706888)
- observed that TLR-mediated signaling increases DEC-205 expression levels without affecting receptor internalization (PMID:21413003)
- Upregulation of LY75 is associated with ovarian tumor. (PMID:21887537)
- CD205+ conventional dendritic cells impacts the regulation of T-cell immunity and homeostasis in vivo (PMID:22736794)
- Data indicate that the interaction between the PE-Cy5.5 conjugates and the cells expressing mDEC205 appears distinctive, since none of the PE-Cy5.5 conjugates bind to the cells that express human DEC205 on surface. (PMID:22841832)
- The most significantly associated SNPs to type 2 diabetes mellitus in this study are expression SNPs to the lymphocyte antigen 75 gene, the ubiquitin-specific peptidase 36 gene, and the phosphatidylinositol transfer protein, cytoplasmic 1 gene. (PMID:22865700)
- DEC-205 is a cell surface receptor for CpG olligonucleotides. (PMID:22988114)
- elevated in cholesteatoma (PMID:24702227)
- Variants in LY75 were associated with a Crohn’s disease phenotype involving erythema nodosum. (PMID:25557950)
- results suggest that DEC205 is an immune receptor that recognizes apoptotic and necrotic cells specifically through a pH-dependent mechanism (PMID:26039988)
- High LY75 expression is associated with metastasis of ovarian cancer. (PMID:26871602)
- keratins are the cellular ligands of human DEC205. (PMID:27821726)
- LY75 Gene Polymorphisms are Associated with Inflammatory Bowel Disease. (PMID:27965521)
- IL-6, DEC205, and CD86 can be predictive biomarkers for the respiratory and immune effects of ambient PM2.5. (PMID:28056587)
- combined panel had the highest sensitivity and specificity at 96.3% and 100%, which was significantly or marginally higher than those of EZH2, C-KIT, and CD205 alone (PMID:29487009)
- LY75 Ablation Mediates Mesenchymal-Epithelial Transition (MET) in Epithelial Ovarian Cancer (EOC) Cells Associated with DNA Methylation Alterations and Suppression of the Wnt/beta-Catenin Pathway. (PMID:32156068)
- LY75 Suppression in Mesenchymal Epithelial Ovarian Cancer Cells Generates a Stable Hybrid EOC Cellular Phenotype, Associated with Enhanced Tumor Initiation, Spreading and Resistance to Treatment in Orthotopic Xenograft Mouse Model. (PMID:32679765)
- Interaction of human dendritic cell receptor DEC205/CD205 with keratins. (PMID:38301891)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ly75 | ENSDARG00000053113 |
| mus_musculus | Ly75 | ENSMUSG00000026980 |
| rattus_norvegicus | Ly75 | ENSRNOG00000007012 |
Paralogs (4): MRC2 (ENSG00000011028), PLA2R1 (ENSG00000153246), CD302 (ENSG00000241399), MRC1 (ENSG00000260314)
Protein
Protein identifiers
Lymphocyte antigen 75 — O60449 (reviewed: O60449)
Alternative names: C-type lectin domain family 13 member B, DEC-205, gp200-MR6
All UniProt accessions (1): O60449
UniProt curated annotations — full annotation on UniProt →
Function. Acts as an endocytic receptor to direct captured antigens from the extracellular space to a specialized antigen-processing compartment. Causes reduced proliferation of B-lymphocytes.
Subcellular location. Membrane.
Tissue specificity. Expressed in spleen, thymus, colon and peripheral blood lymphocytes. Detected in myeloid and B-lymphoid cell lines. Isoform 2 and isoform 3 are expressed in malignant Hodgkin lymphoma cells called Hodgkin and Reed-Sternberg (HRS) cells.
Post-translational modifications. N-glycosylated.
Miscellaneous. Isoform 2 and isoform 3 are produced in HRS cells by a transcriptional control mechanism which cotranscribe an mRNA containing LY75 and CD302 prior to generating the intergenically spliced mRNA to produce LY75/CD302 fusion proteins. Produced by intergenic splicing of LY75 and CD302. Produced by intergenic splicing of LY75 and CD302.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O60449-1 | 4 | yes |
| O60449-2 | 2, Fusion protein variant V34-2 | |
| Q8IX05-2 | 5 | |
| O60449-3 | 3, Fusion protein variant V33-2 | |
| Q8IX05-1 | 1 |
RefSeq proteins (1): NP_002340* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000562 | FN_type2_dom | Domain |
| IPR000772 | Ricin_B_lectin | Domain |
| IPR001304 | C-type_lectin-like | Domain |
| IPR013806 | Kringle-like | Homologous_superfamily |
| IPR016186 | C-type_lectin-like/link_sf | Homologous_superfamily |
| IPR016187 | CTDL_fold | Homologous_superfamily |
| IPR018378 | C-type_lectin_CS | Conserved_site |
| IPR035992 | Ricin_B-like_lectins | Homologous_superfamily |
| IPR036943 | FN_type2_sf | Homologous_superfamily |
| IPR050111 | C-type_lectin/snaclec_domain | Family |
Pfam: PF00040, PF00059, PF24562
UniProt features (195 total): strand 90, helix 27, turn 17, glycosylation site 14, disulfide bond 13, domain 12, sequence variant 12, modified residue 3, topological domain 2, splice variant 2, signal peptide 1, chain 1, transmembrane region 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8K8H | X-RAY DIFFRACTION | 2.79 |
| 7JPT | ELECTRON MICROSCOPY | 3.2 |
| 8HBC | X-RAY DIFFRACTION | 3.35 |
| 7JPU | ELECTRON MICROSCOPY | 5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O60449-F1 | 75.73 | 0.14 |
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 (3): 933, 1703, 1719
Disulfide bonds (13): 169–194, 183–209, 247–340, 317–332, 389–485, 462–477, 597–614, 840–930, 904–922, 1060–1080, 1197–1211, 1488–1502, 1635–1650
Glycosylation sites (14): 135, 345, 377, 529, 843, 865, 934, 1076, 1103, 1225, 1320, 1392, 1593, 1626
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 228 (showing top):
SHEPARD_BMYB_MORPHOLINO_UP, LU_IL4_SIGNALING, GOBP_INFLAMMATORY_RESPONSE, STEARMAN_LUNG_CANCER_EARLY_VS_LATE_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GOCC_CELL_SURFACE, GOBP_VESICLE_MEDIATED_TRANSPORT, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, chr2q24, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_DN, STEARMAN_TUMOR_FIELD_EFFECT_UP, SCHLOSSER_SERUM_RESPONSE_DN, SANSOM_APC_TARGETS_DN, PETROVA_ENDOTHELIUM_LYMPHATIC_VS_BLOOD_DN
GO Biological Process (3): endocytosis (GO:0006897), inflammatory response (GO:0006954), immune response (GO:0006955)
GO Molecular Function (2): carbohydrate binding (GO:0030246), signaling receptor activity (GO:0038023)
GO Cellular Component (4): plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), extracellular exosome (GO:0070062), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| vesicle budding from membrane | 1 |
| membrane invagination | 1 |
| vesicle-mediated transport | 1 |
| import into cell | 1 |
| defense response | 1 |
| immune system process | 1 |
| response to stimulus | 1 |
| binding | 1 |
| molecular transducer activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| plasma membrane | 1 |
| cell surface | 1 |
| side of membrane | 1 |
| extracellular vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1276 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LY75 | CD209 | Q9NNX6 | 866 |
| LY75 | CLEC4A | Q9UMR7 | 864 |
| LY75 | CTAG1A | P78358 | 853 |
| LY75 | CLEC9A | Q6UXN8 | 787 |
| LY75 | CD207 | Q9UJ71 | 784 |
| LY75 | ITGAX | P20702 | 776 |
| LY75 | CD40 | P25942 | 731 |
| LY75 | CLEC7A | Q9BXN2 | 722 |
| LY75 | CD86 | P42081 | 719 |
| LY75 | CD4 | P01730 | 718 |
| LY75 | CD8A | P01732 | 713 |
| LY75 | CD80 | P33681 | 708 |
| LY75 | IL4 | P05112 | 672 |
| LY75 | TLR4 | O00206 | 669 |
| LY75 | FCGR3A | P08637 | 668 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CANX | HLA-A | psi-mi:“MI:0914”(association) | 0.350 |
| CSNK2B | TUBAL3 | psi-mi:“MI:0914”(association) | 0.350 |
| LY75 | glnG | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (2): LY75 (Affinity Capture-MS), LY75 (Affinity Capture-MS)
ESM2 similar proteins: A3FM55, B4XSY7, B4XSY8, B4XSZ1, C0HKZ6, D1MGU0, F1QVU0, O09037, O60449, O75596, O89103, O93426, P06681, P14371, P18292, P19221, P21180, P23132, P25031, P28824, P30836, P35230, P35231, P49259, P49260, P81017, P81112, P98131, Q08731, Q09GJ8, Q09GK0, Q13018, Q28008, Q3SYW2, Q4PRD2, Q568T5, Q5R880, Q60767, Q62028, Q6T7B5
Diamond homologs: A0ZT93, B0VXV2, B4XT08, B5U6Y6, B5U6Y7, C0HKZ7, O60449, P05140, P06027, P06734, P0DJL5, P10716, P13611, P14371, P20693, P34472, P55066, P55067, P81018, P81282, P81996, Q01758, Q02988, Q26627, Q28062, Q28670, Q28858, Q4PRD0, Q4TU93, Q4V885, Q61830, Q62059, Q64449, Q66S03, Q6X5S2, Q6X5S3, Q6X5S5, Q6X5S6, Q6X5S7, Q6X5S8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
35 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 17 |
| Likely benign | 6 |
| Benign | 8 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4924 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:159808443:ACTT:A | donor_loss | 1.0000 |
| 2:159808444:CTTA:C | donor_loss | 1.0000 |
| 2:159808447:A:AC | donor_gain | 1.0000 |
| 2:159808447:A:AG | donor_loss | 1.0000 |
| 2:159808447:A:AT | donor_loss | 1.0000 |
| 2:159808447:AC:A | donor_gain | 1.0000 |
| 2:159808448:C:CA | donor_gain | 1.0000 |
| 2:159808448:C:CC | donor_gain | 1.0000 |
| 2:159808448:CC:C | donor_gain | 1.0000 |
| 2:159808448:CCA:C | donor_gain | 1.0000 |
| 2:159808448:CCAA:C | donor_gain | 1.0000 |
| 2:159808567:GTGAT:G | acceptor_gain | 1.0000 |
| 2:159808568:TGAT:T | acceptor_gain | 1.0000 |
| 2:159808569:GAT:G | acceptor_gain | 1.0000 |
| 2:159808570:AT:A | acceptor_gain | 1.0000 |
| 2:159808571:TC:T | acceptor_loss | 1.0000 |
| 2:159808572:C:CA | acceptor_loss | 1.0000 |
| 2:159808572:C:CC | acceptor_gain | 1.0000 |
| 2:159808572:C:CG | acceptor_loss | 1.0000 |
| 2:159808574:G:C | acceptor_gain | 1.0000 |
| 2:159808575:T:C | acceptor_gain | 1.0000 |
| 2:159808575:T:TC | acceptor_gain | 1.0000 |
| 2:159810652:A:C | acceptor_gain | 1.0000 |
| 2:159815440:A:C | donor_gain | 1.0000 |
| 2:159817030:CAA:C | acceptor_gain | 1.0000 |
| 2:159817033:C:CC | acceptor_gain | 1.0000 |
| 2:159831668:A:AC | donor_gain | 1.0000 |
| 2:159831669:C:CC | donor_gain | 1.0000 |
| 2:159831669:CTT:C | donor_gain | 1.0000 |
| 2:159831787:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
11483 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:159898830:C:A | W108C | 0.999 |
| 2:159898830:C:G | W108C | 0.999 |
| 2:159898947:C:A | W69C | 0.998 |
| 2:159898947:C:G | W69C | 0.998 |
| 2:159842300:C:A | W1075C | 0.997 |
| 2:159842300:C:G | W1075C | 0.997 |
| 2:159898906:C:G | C83S | 0.997 |
| 2:159898907:A:T | C83S | 0.997 |
| 2:159898953:C:A | W67C | 0.997 |
| 2:159898953:C:G | W67C | 0.997 |
| 2:159835535:C:A | W1206C | 0.996 |
| 2:159835535:C:G | W1206C | 0.996 |
| 2:159842302:A:G | W1075R | 0.996 |
| 2:159842302:A:T | W1075R | 0.996 |
| 2:159858381:C:A | W788C | 0.996 |
| 2:159858381:C:G | W788C | 0.996 |
| 2:159864902:C:A | W712C | 0.996 |
| 2:159864902:C:G | W712C | 0.996 |
| 2:159875591:C:A | W609C | 0.996 |
| 2:159875591:C:G | W609C | 0.996 |
| 2:159864904:A:G | W712R | 0.995 |
| 2:159864904:A:T | W712R | 0.995 |
| 2:159872555:C:A | W671C | 0.995 |
| 2:159872555:C:G | W671C | 0.995 |
| 2:159878427:C:A | W557C | 0.995 |
| 2:159878427:C:G | W557C | 0.995 |
| 2:159890295:C:A | W240C | 0.995 |
| 2:159890295:C:G | W240C | 0.995 |
| 2:159898734:C:A | W140C | 0.995 |
| 2:159898734:C:G | W140C | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000020040 (2:159868591 A>T), RS1000049809 (2:159868944 A>G), RS1000050244 (2:159869602 C>G,T), RS1000054858 (2:159880291 A>C), RS1000070654 (2:159835324 G>A), RS1000071693 (2:159806497 T>C), RS1000086947 (2:159816088 T>C,G), RS1000109218 (2:159818443 A>G), RS1000131547 (2:159828012 G>A), RS1000174387 (2:159873523 C>G,T), RS1000264078 (2:159866596 T>A,C), RS1000310386 (2:159886273 A>G), RS1000329096 (2:159815128 C>G,T), RS1000367707 (2:159835027 C>T), RS1000420298 (2:159822625 G>T)
Disease associations
OMIM: gene MIM:604524 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
38 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000984_1 | Idiopathic membranous nephropathy | 9.000000e-29 |
| GCST002729_2 | Crohn’s disease-related phenotypes | 2.000000e-06 |
| GCST003043_85 | Inflammatory bowel disease | 3.000000e-08 |
| GCST003044_22 | Crohn’s disease | 1.000000e-06 |
| GCST004603_214 | Platelet count | 3.000000e-17 |
| GCST004607_221 | Plateletcrit | 2.000000e-22 |
| GCST004607_222 | Plateletcrit | 4.000000e-29 |
| GCST004607_248 | Plateletcrit | 4.000000e-10 |
| GCST004626_19 | Myeloid white cell count | 2.000000e-09 |
| GCST005973_22 | White blood cell count | 5.000000e-10 |
| GCST005974_11 | Neutrophil count | 3.000000e-09 |
| GCST005991_2 | Platelet count | 7.000000e-16 |
| GCST007277_3 | Tourette syndrome | 2.000000e-07 |
| GCST010916_9 | Proportion of activated microglia (inferior temporal cortex) | 2.000000e-06 |
| GCST90002389_130 | Lymphocyte percentage of white cells | 3.000000e-16 |
| GCST90002390_380 | Mean corpuscular hemoglobin | 9.000000e-12 |
| GCST90002392_220 | Mean corpuscular volume | 7.000000e-16 |
| GCST90002395_342 | Mean platelet volume | 2.000000e-15 |
| GCST90002396_223 | Mean reticulocyte volume | 4.000000e-17 |
| GCST90002398_353 | Neutrophil count | 1.000000e-12 |
| GCST90002398_354 | Neutrophil count | 3.000000e-11 |
| GCST90002399_117 | Neutrophil percentage of white cells | 2.000000e-09 |
| GCST90002400_331 | Plateletcrit | 4.000000e-54 |
| GCST90002400_332 | Plateletcrit | 2.000000e-10 |
| GCST90002400_333 | Plateletcrit | 2.000000e-12 |
| GCST90002400_334 | Plateletcrit | 7.000000e-28 |
| GCST90002400_335 | Plateletcrit | 4.000000e-22 |
| GCST90002400_336 | Plateletcrit | 1.000000e-12 |
| GCST90002402_252 | Platelet count | 1.000000e-40 |
| GCST90002402_253 | Platelet count | 3.000000e-11 |
EFO canonical traits (11, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004309 | platelet count |
| EFO:0007985 | platelet crit |
| EFO:0004833 | neutrophil count |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0010701 | mean reticulocyte volume |
| EFO:0007990 | neutrophil percentage of leukocytes |
| EFO:0004305 | erythrocyte count |
| EFO:0004736 | aspartate aminotransferase measurement |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4804258 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: other protein — Lymphocyte antigens
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 7 |
| entinostat | affects cotreatment, increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| Asian ginseng | decreases expression, decreases reaction, affects cotreatment | 1 |
| pirinixic acid | decreases expression, increases activity, increases expression, affects binding | 1 |
| trichostatin A | increases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| quinocetone | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Acetaminophen | increases expression | 1 |
| Cytarabine | increases expression | 1 |
| Diethylhexyl Phthalate | decreases expression, decreases reaction, affects cotreatment | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Iron | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Vitamin D | affects expression | 1 |
| Cyclosporine | increases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): membranous glomerulonephritis