TNFSF8
geneOn this page
Also known as CD153
Summary
TNFSF8 (TNF superfamily member 8, HGNC:11938) is a protein-coding gene on chromosome 9q32-q33.1, encoding Tumor necrosis factor ligand superfamily member 8 (P32971). Cytokine that binds to TNFRSF8/CD30.
The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF8/CD30, which is a cell surface antigen and a marker for Hodgkin lymphoma and related hematologic malignancies. The engagement of this cytokine expressed on B cell surface plays an inhibitory role in modulating Ig class switch. This cytokine was shown to enhance cell proliferation of some lymphoma cell lines, while to induce cell death and reduce cell proliferation of other lymphoma cell lines. The pleiotropic biologic activities of this cytokine on different CD30+ lymphoma cell lines may play a pathophysiologic role in Hodgkin’s and some non-Hodgkin’s lymphomas. Two transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 944 — RefSeq curated summary.
At a glance
- GWAS associations: 20
- Clinical variants (ClinVar): 31 total
- MANE Select transcript:
NM_001244
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11938 |
| Approved symbol | TNFSF8 |
| Name | TNF superfamily member 8 |
| Location | 9q32-q33.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CD153 |
| Ensembl gene | ENSG00000106952 |
| Ensembl biotype | protein_coding |
| OMIM | 603875 |
| Entrez | 944 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000223795, ENST00000474301, ENST00000618336, ENST00000872160
RefSeq mRNA: 2 — MANE Select: NM_001244
NM_001244, NM_001252290
CCDS: CCDS6810, CCDS75884
Canonical transcript exons
ENST00000223795 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000722203 | 114905828 | 114905899 |
| ENSE00000722204 | 114918096 | 114918138 |
| ENSE00000806380 | 114930109 | 114930591 |
| ENSE00001317619 | 114901145 | 114904325 |
Expression profiles
Bgee: expression breadth ubiquitous, 179 present calls, max score 90.25.
FANTOM5 (CAGE): breadth broad, TPM avg 9.2815 / max 415.1738, expressed in 444 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 102183 | 4.6976 | 351 |
| 102186 | 4.1447 | 341 |
| 102184 | 0.1720 | 98 |
| 102185 | 0.1200 | 61 |
| 102181 | 0.0770 | 41 |
| 102182 | 0.0702 | 46 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 90.25 | gold quality |
| leukocyte | CL:0000738 | 89.83 | gold quality |
| mononuclear cell | CL:0000842 | 89.72 | gold quality |
| granulocyte | CL:0000094 | 88.52 | gold quality |
| blood | UBERON:0000178 | 87.07 | gold quality |
| lymph node | UBERON:0000029 | 86.45 | gold quality |
| vermiform appendix | UBERON:0001154 | 80.77 | gold quality |
| superficial temporal artery | UBERON:0001614 | 80.72 | gold quality |
| spleen | UBERON:0002106 | 79.72 | gold quality |
| gall bladder | UBERON:0002110 | 78.62 | gold quality |
| bone marrow | UBERON:0002371 | 77.08 | gold quality |
| caecum | UBERON:0001153 | 74.94 | gold quality |
| amniotic fluid | UBERON:0000173 | 73.61 | gold quality |
| parietal pleura | UBERON:0002400 | 73.60 | gold quality |
| endometrium epithelium | UBERON:0004811 | 73.35 | silver quality |
| right lung | UBERON:0002167 | 72.25 | gold quality |
| pleura | UBERON:0000977 | 72.24 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 71.91 | gold quality |
| bone marrow cell | CL:0002092 | 71.57 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 71.22 | gold quality |
| rectum | UBERON:0001052 | 71.01 | gold quality |
| frontal pole | UBERON:0002795 | 70.99 | silver quality |
| visceral pleura | UBERON:0002401 | 70.77 | gold quality |
| thymus | UBERON:0002370 | 70.75 | gold quality |
| paraflocculus | UBERON:0005351 | 70.60 | silver quality |
| middle frontal gyrus | UBERON:0002702 | 70.17 | silver quality |
| upper lobe of left lung | UBERON:0008952 | 69.99 | gold quality |
| tonsil | UBERON:0002372 | 69.88 | gold quality |
| colonic epithelium | UBERON:0000397 | 69.63 | silver quality |
| upper lobe of lung | UBERON:0008948 | 69.31 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8410 | yes | 16.71 |
| E-ANND-3 | yes | 8.62 |
| E-HCAD-29 | no | 3519.87 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
126 targeting TNFSF8, 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-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-652-5P | 99.91 | 67.49 | 505 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-4493 | 99.90 | 66.48 | 977 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-3151-5P | 99.86 | 63.83 | 1069 |
| HSA-MIR-4503 | 99.85 | 71.45 | 1869 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-448 | 99.79 | 72.37 | 2103 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
Literature-anchored findings (GeneRIF, showing 18)
- capability to up-regulate expression of CD30, release of soluble CD30 and production of IL-4 in pre-activated T cells upon co-culture (PMID:11728464)
- only in a subset of both benign and malignant thyroid nodules the interleukin-6/interleukin-6 receptor signal could be induced by the CD30 ligand/CD30 (PMID:12553555)
- CD30-L/CD30 and IL-6/IL-6R systems could play a major role in the pathogenesis of Graves’disease (GD), but the expression of CD30L/CD30 and IL-6/IL-6R in Hashimoto’s thyroiditis (HT) suggests that Th2 mechanisms are involved in tissue damage. (PMID:16372246)
- Mast cells were found to be the predominant CD30 ligand-positive (CD30L-positive) cell in the chronic inflammatory skin diseases psoriasis and atopic dermatitis. (PMID:16964309)
- results suggested a possible role of cd30 and cd30L in the pathogenesis of acute leukemia (PMID:18689277)
- CD153 antigen was expressed by synovial mast cells, and correlated with serum levels, in Rheumatoid Arthritis patients (PMID:19208589)
- Single nucleotide polymorphism in TNFSF8 gene is associated with bone disease in myeloma. (PMID:19657367)
- a possible role of novel TNFSF8 variants in susceptibility to lung cancer. (PMID:21292647)
- Positional candidate gene screening in the SPA2 locus allowed us to identify and replicate an association between a rare SNP located in TNFSF8 and spondylarthritis. (PMID:21480186)
- The TNFSF8 polymorphisms rs927374 and rs2295800 were associated with neutrophil count. This finding suggests that post-MI inflammatory response is genetically modulated. (PMID:22033252)
- a novel and unexpected role for CD30/CD30L that contributes to proinflammatory immune responses (PMID:22628304)
- circulant sCD30L is functionally active and that it may favor persistence of active inflammation by inducing apoptosis of CD30(+)T cells, known to down-modulate inflammation in rheumatoid synovitis. (PMID:24447865)
- The heritability of IgA levels is moderate and can partly be attributable to common variation in the CD30L locus. (PMID:24676358)
- soluble apoptosis markers as sFas-L, Caspase-9, Caspase-8 and sCD153 were significantly higher in stage III obesity patients compared obese patients without food allergy (PMID:25059065)
- TNFSF8 is an important leprosy T1R susceptibility gene. (PMID:25320285)
- Data suggest that Brentuximab Vedotin (SGN-35) damaged CD30 ligand (CD30L)-immune cells through CD30 extracellular vesicles (EVs). (PMID:27105521)
- Polyfunctional CD153-expressing CD4 T cells are increased in latent Mycobacterium tuberculosis infection compared to active Tuberculosis. (PMID:30202016)
- Several genetic variants associated with systemic sclerosis in a Chinese Han population. (PMID:36301368)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Tnfsf8 | ENSMUSG00000028362 |
| rattus_norvegicus | Tnfsf8 | ENSRNOG00000048321 |
Protein
Protein identifiers
Tumor necrosis factor ligand superfamily member 8 — P32971 (reviewed: P32971)
Alternative names: CD30 ligand
All UniProt accessions (3): P32971, A0A087X228, Q52M88
UniProt curated annotations — full annotation on UniProt →
Function. Cytokine that binds to TNFRSF8/CD30. Induces proliferation of T-cells.
Subunit / interactions. Homotrimer.
Subcellular location. Membrane.
Similarity. Belongs to the tumor necrosis factor family.
RefSeq proteins (2): NP_001235, NP_001239219 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006052 | TNF_dom | Domain |
| IPR008983 | Tumour_necrosis_fac-like_dom | Homologous_superfamily |
| IPR021184 | TNF_CS | Conserved_site |
| IPR021185 | TNF_CD30_ligand_type | Family |
| IPR053104 | TNF_ligand_SF_member_8 | Family |
Pfam: PF00229
UniProt features (11 total): glycosylation site 5, topological domain 2, chain 1, disulfide bond 1, transmembrane region 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P32971-F1 | 80.07 | 0.47 |
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 (1): 151–177
Glycosylation sites (5): 81, 109, 153, 189, 201
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-5669034 | TNFs bind their physiological receptors |
MSigDB gene sets: 245 (showing top):
TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_6HR_DN, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_ALPHA_BETA_T_CELL_DIFFERENTIATION, SA_MMP_CYTOKINE_CONNECTION, GOBP_CELL_CELL_SIGNALING, GOBP_LEUKOCYTE_PROLIFERATION, WANG_RESPONSE_TO_BEXAROTENE_DN, FOSTER_TOLERANT_MACROPHAGE_UP, GOBP_DEFENSE_RESPONSE_TO_GRAM_POSITIVE_BACTERIUM, GOBP_ALPHA_BETA_T_CELL_ACTIVATION, GOMF_CYTOKINE_ACTIVITY, GOBP_DEFENSE_RESPONSE_TO_BACTERIUM, GOMF_SIGNALING_RECEPTOR_BINDING
GO Biological Process (9): immune response (GO:0006955), cell-cell signaling (GO:0007267), regulation of T cell proliferation (GO:0042129), CD8-positive, alpha-beta T cell differentiation (GO:0043374), positive regulation of transcription by RNA polymerase II (GO:0045944), defense response to Gram-positive bacterium (GO:0050830), cell communication (GO:0007154), signal transduction (GO:0007165), signaling (GO:0023052)
GO Molecular Function (4): signaling receptor binding (GO:0005102), cytokine activity (GO:0005125), tumor necrosis factor receptor binding (GO:0005164), protein binding (GO:0005515)
GO Cellular Component (3): obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| TNFR2 non-canonical NF-kB pathway | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell communication | 2 |
| signaling | 2 |
| cellular process | 2 |
| immune system process | 1 |
| response to stimulus | 1 |
| T cell proliferation | 1 |
| regulation of lymphocyte proliferation | 1 |
| regulation of T cell activation | 1 |
| CD8-positive, alpha-beta T cell activation | 1 |
| alpha-beta T cell differentiation | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| defense response to bacterium | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| regulation of biological process | 1 |
| protein binding | 1 |
| receptor ligand activity | 1 |
| tumor necrosis factor receptor superfamily binding | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1520 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TNFSF8 | TNFRSF8 | P28908 | 999 |
| TNFSF8 | TNFRSF4 | P43489 | 926 |
| TNFSF8 | CD27 | P26842 | 920 |
| TNFSF8 | TNFSF15 | O95150 | 876 |
| TNFSF8 | CD40 | P25942 | 845 |
| TNFSF8 | TNFSF4 | P23510 | 835 |
| TNFSF8 | TNFRSF9 | Q07011 | 827 |
| TNFSF8 | TNFRSF6B | O95407 | 708 |
| TNFSF8 | CXCL8 | P10145 | 703 |
| TNFSF8 | CD40LG | P29965 | 700 |
| TNFSF8 | TNF | P01375 | 698 |
| TNFSF8 | TNFRSF1A | P19438 | 671 |
| TNFSF8 | TNFRSF14 | Q92956 | 660 |
| TNFSF8 | CD70 | P32970 | 620 |
| TNFSF8 | TNFSF9 | P41273 | 608 |
IntAct
15 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TNFSF8 | TOR1B | psi-mi:“MI:0914”(association) | 0.640 |
| TNFSF8 | TNFRSF8 | psi-mi:“MI:0915”(physical association) | 0.610 |
| TNFSF8 | TNFRSF8 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| BMP10 | TNFSF8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TNFSF8 | CXCL9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TNFSF8 | LGALS8 | psi-mi:“MI:0914”(association) | 0.530 |
| AP5S1 | AP5Z1 | psi-mi:“MI:0914”(association) | 0.530 |
| PSG4 | TNFSF8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TNFSF8 | NME4 | psi-mi:“MI:0914”(association) | 0.350 |
| BMP10 | TNFSF8 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CXCL9 | TNFSF8 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (172): DCBLD1 (Affinity Capture-MS), CDON (Affinity Capture-MS), F5 (Affinity Capture-MS), RYK (Affinity Capture-MS), TAMM41 (Affinity Capture-MS), NEK3 (Affinity Capture-MS), ULBP2 (Affinity Capture-MS), ATR (Affinity Capture-MS), ULBP3 (Affinity Capture-MS), EFNB3 (Affinity Capture-MS), HBA2 (Affinity Capture-MS), ULBP1 (Affinity Capture-MS), TNFSF9 (Affinity Capture-MS), PTPRS (Affinity Capture-MS), PTPN2 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GSZ0, A5PK14, A6QQC6, B7ZWI3, C8AW46, C8AW47, O00453, O08843, O95976, P04235, P08920, P08921, P0C6B7, P21757, P30204, P32971, P32972, P86045, P86176, Q05585, Q16655, Q29102, Q2HRD5, Q3SYX1, Q3T113, Q3UQS2, Q3UU41, Q3UU67, Q4VAH7, Q4W815, Q5E9I3, Q62875, Q6AXS2, Q6EBC2, Q6UWF3, Q6UWW9, Q6UXZ0, Q6XQ84, Q6ZUJ8, Q80UL9
Diamond homologs: P32971, P32972
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
31 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 22 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
424 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:114904321:TGCCA:T | acceptor_gain | 1.0000 |
| 9:114904323:CCA:C | acceptor_gain | 1.0000 |
| 9:114904324:CA:C | acceptor_gain | 1.0000 |
| 9:114904324:CAC:C | acceptor_gain | 1.0000 |
| 9:114904326:C:CC | acceptor_gain | 1.0000 |
| 9:114918091:CTTA:C | donor_loss | 1.0000 |
| 9:114918092:TTAC:T | donor_loss | 1.0000 |
| 9:114918093:TA:T | donor_loss | 1.0000 |
| 9:114918094:ACCT:A | donor_gain | 1.0000 |
| 9:114918095:C:CA | donor_loss | 1.0000 |
| 9:114918095:CCTC:C | donor_gain | 1.0000 |
| 9:114918097:T:TA | donor_gain | 1.0000 |
| 9:114930107:ACCGT:A | donor_gain | 1.0000 |
| 9:114930108:CCGTC:C | donor_gain | 1.0000 |
| 9:114904322:GCCA:G | acceptor_gain | 0.9900 |
| 9:114904323:CCAC:C | acceptor_gain | 0.9900 |
| 9:114904326:CTAGA:C | acceptor_loss | 0.9900 |
| 9:114905897:TTCC:T | acceptor_loss | 0.9900 |
| 9:114905898:TCCT:T | acceptor_loss | 0.9900 |
| 9:114905899:CCT:C | acceptor_loss | 0.9900 |
| 9:114905900:C:CC | acceptor_gain | 0.9900 |
| 9:114905900:CTA:C | acceptor_loss | 0.9900 |
| 9:114905901:T:A | acceptor_loss | 0.9900 |
| 9:114908637:C:T | acceptor_gain | 0.9900 |
| 9:114918139:C:CC | acceptor_gain | 0.9900 |
| 9:114918139:CT:C | acceptor_loss | 0.9900 |
| 9:114918140:T:A | acceptor_loss | 0.9900 |
| 9:114930102:CACTT:C | donor_loss | 0.9900 |
| 9:114930103:ACTTA:A | donor_loss | 0.9900 |
| 9:114930104:CTTAC:C | donor_loss | 0.9900 |
AlphaMissense
1530 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:114904195:A:C | F147L | 0.992 |
| 9:114904195:A:T | F147L | 0.992 |
| 9:114904197:A:G | F147L | 0.992 |
| 9:114904293:A:G | W115R | 0.992 |
| 9:114904293:A:T | W115R | 0.992 |
| 9:114904291:C:A | W115C | 0.989 |
| 9:114904291:C:G | W115C | 0.989 |
| 9:114904019:A:T | V206D | 0.988 |
| 9:114904196:A:G | F147S | 0.988 |
| 9:114904209:A:G | C143R | 0.987 |
| 9:114904202:A:G | L145P | 0.984 |
| 9:114904025:A:T | I204K | 0.983 |
| 9:114904163:A:G | L158P | 0.983 |
| 9:114905833:A:G | L102P | 0.981 |
| 9:114903967:A:C | N223K | 0.979 |
| 9:114903967:A:T | N223K | 0.979 |
| 9:114904107:A:G | C177R | 0.979 |
| 9:114904151:A:G | L162P | 0.978 |
| 9:114904106:C:G | C177S | 0.977 |
| 9:114904107:A:T | C177S | 0.977 |
| 9:114904196:A:C | F147C | 0.977 |
| 9:114930159:A:G | C49R | 0.977 |
| 9:114904106:C:T | C177Y | 0.975 |
| 9:114904023:A:G | S205P | 0.974 |
| 9:114904221:A:C | Y139D | 0.973 |
| 9:114904207:G:C | C143W | 0.972 |
| 9:114904067:A:G | L190P | 0.971 |
| 9:114904025:A:C | I204R | 0.970 |
| 9:114904105:A:C | C177W | 0.968 |
| 9:114904292:C:G | W115S | 0.968 |
dbSNP variants (sampled 300 via entrez): RS1000084691 (9:114893685 G>C,T), RS1000198621 (9:114898834 T>C), RS1000198727 (9:114906501 G>A,T), RS1000254033 (9:114913239 T>A), RS1000375231 (9:114899857 G>A), RS1000423174 (9:114905059 G>A), RS1000427435 (9:114899602 G>A), RS1000561466 (9:114928176 C>T), RS1000654167 (9:114906168 A>G), RS1000769513 (9:114904679 G>A,C), RS1000891442 (9:114895076 T>C), RS1001023180 (9:114922533 T>C), RS1001085385 (9:114930212 A>C,G), RS1001341771 (9:114894864 A>G), RS1001382090 (9:114898486 G>A)
Disease associations
OMIM: gene MIM:603875 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
20 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000879_9 | Crohn’s disease | 1.000000e-15 |
| GCST000964_9 | Ulcerative colitis | 6.000000e-12 |
| GCST001725_101 | Inflammatory bowel disease | 3.000000e-32 |
| GCST001785_11 | Crohn’s disease | 5.000000e-46 |
| GCST003602_12 | Inflammatory bowel disease | 2.000000e-27 |
| GCST004302_3 | Primary biliary cholangitis | 1.000000e-29 |
| GCST004600_80 | Eosinophil percentage of white cells | 5.000000e-13 |
| GCST004606_12 | Eosinophil count | 3.000000e-11 |
| GCST004617_171 | Eosinophil percentage of granulocytes | 1.000000e-13 |
| GCST004623_127 | Neutrophil percentage of granulocytes | 5.000000e-13 |
| GCST004624_136 | Sum eosinophil basophil counts | 2.000000e-10 |
| GCST004863_3 | Mosquito bite size | 2.000000e-07 |
| GCST005537_174 | Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy) | 1.000000e-14 |
| GCST007036_4 | Primary biliary cholangitis | 2.000000e-26 |
| GCST007216_1 | Crohn’s disease | 3.000000e-26 |
| GCST008568_10 | IgA levels | 7.000000e-08 |
| GCST008572_10 | Composite immunoglobulin trait (IgA/IgG) | 2.000000e-07 |
| GCST90002381_480 | Eosinophil count | 2.000000e-24 |
| GCST90002382_273 | Eosinophil percentage of white cells | 2.000000e-28 |
| GCST90010715_11 | Arthritis (juvenile idiopathic) | 8.000000e-08 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0004842 | eosinophil count |
| EFO:0007996 | eosinophil percentage of granulocytes |
| EFO:0007994 | neutrophil percentage of granulocytes |
| EFO:0005090 | basophil count |
| EFO:0008378 | mosquito bite reaction size measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 4 |
| (+)-JQ1 compound | decreases expression | 2 |
| Arsenic Trioxide | increases expression | 2 |
| Nickel | increases expression | 2 |
| potassium perchlorate | increases expression | 1 |
| VX-agent | increases expression | 1 |
| 3,3’-diindolylmethane | increases expression | 1 |
| sodium arsenite | affects methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| usnic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| motexafin gadolinium | decreases reaction, increases expression | 1 |
| abrine | increases expression | 1 |
| brevetoxin 2 | increases expression | 1 |
| PF 3758309 | decreases expression | 1 |
| Erlotinib Hydrochloride | affects cotreatment, affects expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Gemcitabine | affects cotreatment, affects expression | 1 |
| alpha-Chlorohydrin | decreases expression | 1 |
| Arsenic | affects cotreatment, decreases expression | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Environmental Pollutants | affects expression | 1 |
| Fluorides | decreases expression, affects cotreatment | 1 |
| Lipopolysaccharides | increases expression, affects response to substance, affects cotreatment | 1 |
| Menthol | decreases expression | 1 |
| Paraquat | decreases expression | 1 |
| Phthalic Acids | decreases methylation | 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): ankylosing spondylitis, juvenile idiopathic arthritis, primary biliary cholangitis, psoriasis, sclerosing cholangitis, ulcerative colitis