IL32
gene geneOn this page
Also known as NK4TAIFTAIFbTAIFd
Summary
IL32 (interleukin 32, HGNC:16830) is a protein-coding gene on chromosome 16p13.3, encoding Interleukin-32 (P24001). Cytokine that may play a role in innate and adaptive immune responses.
This gene encodes a member of the cytokine family. The protein contains a tyrosine sulfation site, 3 potential N-myristoylation sites, multiple putative phosphorylation sites, and an RGD cell-attachment sequence. Expression of this protein is increased after the activation of T-cells by mitogens or the activation of NK cells by IL-2. This protein induces the production of TNFalpha from macrophage cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
Source: NCBI Gene 9235 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 99 total — 1 pathogenic
- MANE Select transcript:
NM_001376923
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16830 |
| Approved symbol | IL32 |
| Name | interleukin 32 |
| Location | 16p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NK4, TAIF, TAIFb, TAIFd |
| Ensembl gene | ENSG00000008517 |
| Ensembl biotype | protein_coding |
| OMIM | 606001 |
| Entrez | 9235 |
Gene structure
Transcript identifiers
Ensembl transcripts: 60 — 55 protein_coding, 5 retained_intron
ENST00000008180, ENST00000325568, ENST00000382213, ENST00000396887, ENST00000396890, ENST00000440815, ENST00000444393, ENST00000525003, ENST00000525228, ENST00000525377, ENST00000525643, ENST00000526464, ENST00000528163, ENST00000528652, ENST00000529550, ENST00000529699, ENST00000530538, ENST00000530890, ENST00000531965, ENST00000532086, ENST00000532247, ENST00000533097, ENST00000534507, ENST00000534748, ENST00000548246, ENST00000548476, ENST00000548652, ENST00000548807, ENST00000549213, ENST00000551122, ENST00000551513, ENST00000552356, ENST00000552664, ENST00000552936, ENST00000613483, ENST00000878150, ENST00000878151, ENST00000878152, ENST00000878153, ENST00000878154, ENST00000878155, ENST00000878156, ENST00000878157, ENST00000878158, ENST00000878159, ENST00000878160, ENST00000878161, ENST00000878162, ENST00000878163, ENST00000878164, ENST00000878165, ENST00000878166, ENST00000878167, ENST00000921321, ENST00000948218, ENST00000948219, ENST00000948220, ENST00000948221, ENST00000948222, ENST00000948223
RefSeq mRNA: 19 — MANE Select: NM_001376923
NM_001012631, NM_001012632, NM_001012633, NM_001012634, NM_001012635, NM_001012636, NM_001012718, NM_001308078, NM_001369587, NM_001369588, NM_001369589, NM_001369590, NM_001369591, NM_001369592, NM_001369593, NM_001369595, NM_001369596, NM_001376923, NM_004221
CCDS: CCDS32377, CCDS32378, CCDS32379, CCDS45394, CCDS76811, CCDS92092, CCDS92093
Canonical transcript exons
ENST00000525643 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000665962 | 3067984 | 3068010 |
| ENSE00001159749 | 3067554 | 3067613 |
| ENSE00002360362 | 3068990 | 3069530 |
| ENSE00003508380 | 3068180 | 3068239 |
| ENSE00003602260 | 3065784 | 3065826 |
| ENSE00003669904 | 3067377 | 3067415 |
| ENSE00003901032 | 3065640 | 3065687 |
Expression profiles
Bgee: expression breadth ubiquitous, 219 present calls, max score 99.54.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 188.2302 / max 12915.3387, expressed in 1462 samples.
FANTOM5 promoters (13 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 152385 | 148.8818 | 1298 |
| 152382 | 22.2576 | 1231 |
| 152381 | 10.7533 | 1134 |
| 152383 | 3.0919 | 718 |
| 152380 | 1.0171 | 533 |
| 152389 | 0.8192 | 272 |
| 152384 | 0.6045 | 277 |
| 152388 | 0.4415 | 57 |
| 152386 | 0.1873 | 86 |
| 152387 | 0.0642 | 34 |
Top tissues by expression
273 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 99.54 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 99.39 | gold quality |
| body of pancreas | UBERON:0001150 | 99.36 | gold quality |
| spleen | UBERON:0002106 | 99.08 | gold quality |
| apex of heart | UBERON:0002098 | 98.69 | gold quality |
| duodenum | UBERON:0002114 | 98.67 | gold quality |
| jejunal mucosa | UBERON:0000399 | 98.65 | gold quality |
| islet of Langerhans | UBERON:0000006 | 98.62 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 98.56 | gold quality |
| ileal mucosa | UBERON:0000331 | 98.35 | gold quality |
| metanephros cortex | UBERON:0010533 | 98.28 | gold quality |
| gall bladder | UBERON:0002110 | 98.23 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 98.22 | gold quality |
| rectum | UBERON:0001052 | 98.19 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 98.14 | gold quality |
| right lobe of liver | UBERON:0001114 | 98.04 | gold quality |
| right lung | UBERON:0002167 | 97.96 | gold quality |
| lymph node | UBERON:0000029 | 97.87 | gold quality |
| small intestine | UBERON:0002108 | 97.85 | gold quality |
| pancreas | UBERON:0001264 | 97.77 | gold quality |
| vermiform appendix | UBERON:0001154 | 97.76 | gold quality |
| colonic epithelium | UBERON:0000397 | 97.28 | gold quality |
| upper lobe of lung | UBERON:0008948 | 96.97 | gold quality |
| right atrium auricular region | UBERON:0006631 | 96.94 | gold quality |
| type B pancreatic cell | CL:0000169 | 96.75 | silver quality |
| blood | UBERON:0000178 | 96.50 | gold quality |
| body of tongue | UBERON:0011876 | 96.41 | gold quality |
| transverse colon | UBERON:0001157 | 96.37 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 96.19 | gold quality |
| cardiac atrium | UBERON:0002081 | 95.64 | gold quality |
Single-cell (SCXA)
Detected in 65 experiment(s), a significant marker in 51.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-120 | yes | 9279.00 |
| E-CURD-95 | yes | 7952.60 |
| E-MTAB-6653 | yes | 5598.63 |
| E-GEOD-111727 | yes | 5280.63 |
| E-GEOD-139324 | yes | 4882.68 |
| E-MTAB-8207 | yes | 4610.84 |
| E-MTAB-8142 | yes | 4603.24 |
| E-MTAB-10042 | yes | 4445.77 |
| E-CURD-112 | yes | 4321.12 |
| E-MTAB-8410 | yes | 4151.42 |
| E-GEOD-125970 | yes | 4065.18 |
| E-GEOD-70580 | yes | 3975.86 |
| E-MTAB-9467 | yes | 3968.95 |
| E-HCAD-15 | yes | 3939.20 |
| E-GEOD-149689 | yes | 3794.10 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| IFNL1 | Activation |
Upstream regulators (CollecTRI, top): ATF2, CREB1, DNMT1, DNMT3B, JUN, NFKB1, NFKB2, NFKBIA, RELA, RELB
miRNA regulators (miRDB)
10 targeting IL32, 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-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-657 | 99.48 | 66.02 | 848 |
| HSA-MIR-499A-3P | 99.18 | 69.20 | 1392 |
| HSA-MIR-499B-3P | 99.18 | 69.27 | 1391 |
| HSA-MIR-4477A | 98.83 | 69.75 | 2952 |
| HSA-MIR-4755-3P | 98.77 | 65.59 | 1915 |
| HSA-MIR-6801-3P | 98.04 | 64.64 | 805 |
| HSA-MIR-6810-3P | 97.96 | 64.57 | 1023 |
| HSA-MIR-7113-5P | 97.88 | 67.33 | 1735 |
Literature-anchored findings (GeneRIF, showing 40)
- results strongly indicate that IL-32 is involved in activation-induced cell death in T cells, probably via its intracellular actions (PMID:16410314)
- Proteinase 3 is a specific IL-32alpha binding protein, independent of its enzymatic activity (PMID:16488976)
- IL-32, strongly associated with TNFalpha, IL-1beta, and IL-18, appears to play a role in human rheumatoid arthritis and may be a novel target in autoimmune diseases. (PMID:16492735)
- IL-32 is a cell-associated proinflammatory cytokine, which is specifically stimulated by mycobacteria through a caspase-1- and IL-18-dependent production of interferon gamma. (PMID:16903774)
- review of important role of IL32 in the pathogenesis of rheumatoid arthritis (PMID:17619821)
- Dysregulation of IL-32 in myelodysplastic syndrome and chronic myelomonocytic leukemia modulates apoptosis and impairs NK function. (PMID:18287021)
- Data suggest that the constitutive expression of IL-32 mRNA as well as the predominant production of a smaller sized IL-32 isoform in Jurkat cells may implicate a role for IL-32 in human T cell leukemia. (PMID:18289868)
- induction of TNF, IL-1beta, and IL-6 by IL-32 is mediated by p38-MAPK; IL-32-induced monocyte-to-macrophage differentiation is mediated through nonapoptotic, caspase-3-dependent mechanisms (PMID:18296636)
- the interleukin-32 pro-inflammatory pathway is activated in response to influenza A virus infectio (PMID:18414668)
- Constitutive expression of IL-32 in an immature monocyte-derived dendritic cell subset may be related to the potency of expressed Venezuelan equine encephalitis (VEE) particle vector system as well as potentially to the pathogenesis of VEE. (PMID:18768856)
- The N-terminal IL-32 isoform gamma separate domain evidenced the highest levels of biological activity among the IL-32 separate domains. (PMID:19017495)
- This study introduces IL-32 as a critical regulator of endothelial function, expanding the properties of this cytokine relevant to coagulation, endothelial inflammation, and atherosclerosis. (PMID:19228941)
- IL-32 may be a newly identified prognostic biomarker in rheumatoid arthritis. Production of IL-32 in rheumatoid synovial fibroblasts is regulated by Syk/PKCdelta/JNK-mediated signaling events. (PMID:19248119)
- Influenza A virus infection activates IL-32 and iNOS expression by a heretofore unrecognized complex mechanism, in which the two pro-inflammatory factors regulate each other, involving positive and negative feedback regulatory loops. (PMID:19291698)
- Data show that the IL-32 gene is expressed in human endothelial cells and Akt strongly induces its expression. (PMID:19364659)
- High IL-32 is associated with Pancreatic Cancer. (PMID:19386602)
- IL-32 was differentially expressed by lung cancer histotypes;with strong expression in most adenocarcinomas (AC) and their precursors, as well large-cell carcinomas and small-cell lung cancers; lacking in squamous cell carcinoma (PMID:19628777)
- IL-32beta upregulates the production of an anti-inflammatory cytokine IL-10, and then IL-10 suppresses proinflammatory cytokines. (PMID:19740314)
- These data suggest that IL-32, which induces IL-1beta, IL-6, and chemokines, is not only involved in host defense against pathogens, but also might play a role in chronic inflammatory diseases. (PMID:19880327)
- IL-32gamma is a potent mediator of active osteoclast generation in the presence of sRANKL (PMID:20112365)
- IL-32 plays a host defense role against M. tuberculosis in differentiated THP-1 human macrophages. (PMID:20190143)
- IL-32 has an important role in vascular inflammation and sepsis development (PMID:20221440)
- The present study demonstrates keratinocytes (KCs) as a source of IL-32, which modulates KC apoptosis and contributes to the pathophysiology of atopic dermatitis. (PMID:20227751)
- These results show that genetic modification of DU145 cells with NK4 cDNA yields a significant effect on their proliferation, migration, invasion and apoptosis. (PMID:20400971)
- The results showed that Orientia tsutsugamushi infection activated the NOD1 pathway followed by IL-32 secretion, thus resulting in the production and expression of IL-1beta, IL-6, IL-8, and ICAM-1 endothelial cells. (PMID:20470879)
- Butyrate stimulated IL-32alpha expression in epithelial cell lines. An epigenetic mechanism, such as histone hyperacetylation, might be involved in the action of butyrate on IL-32alpha expression. (PMID:20480520)
- human IL-32alpha and IL-32beta regulates on xenograft rejection in cellular xenotransplantation (PMID:20541181)
- IL-32 synthesis by fibroblast-like synoviocytes is tightly regulated by innate immunity in rheumatoid arthritis (PMID:20615213)
- The results from the present study suggest that IL-32 may play a role in the regulation of neuroinflammatory responses in several neurological disease conditions such as ischemia and Alzheimer’s disease. (PMID:20888796)
- We have demonstrated the anti-influenza virus function of IL-32 (PMID:20889550)
- Demonstration of membrane association for both intracellular and released IL-32 suggests this unique cytokine may have a complex biosynthetic pathway and mechanism of action. (PMID:20926308)
- the role of IL-32 in intestinal inflammation (PMID:21078994)
- IL-32alpha mRNA expression depends on the phosphatidylinositol 3-kinase and the NF-kappaB system (PMID:21152864)
- the high-risk variant of human papillomavirus induces IL-32 expression (PMID:21208204)
- Data show that IL-32alpha stimulates Fas and ULBP2 expression via activation of p38 MAPK, which increases NK susceptibility of chronic myeloid leukemia cells. (PMID:21321117)
- A central role is discovered for IL-32 in the immune response to vesicular stomatitis Indiana virus (an RNA virus) and DNA virus human herpesvirus type 2. (PMID:21346229)
- naturally occurring IL-32gamma can be spliced into IL-32beta, which is a less potent proinflammatory mediator. Splicing of IL-32gamma into IL-32beta is a safety switch in controlling the effects of IL-32gamma and thereby reduces chronic inflammation. (PMID:21383200)
- significant pathophysiological roles of IL-32gamma (PMID:21423208)
- Our findings indicate that overexpression of IL-32 together with a clear Th1 response immunologically characterizes the inflammatory response in giant cell arteritis. In particular, IL-32 seems to be an important mediator of artery inflammation in GCA. (PMID:21452292)
- Stable transfection of the new IL-32 isoform significantly decreased TNF-alpha-induced IL-8 mRNA expression in HT-29 cells. (PMID:21468596)
Cross-species orthologs
0 orthologs
Protein
Protein identifiers
Interleukin-32 — P24001 (reviewed: P24001)
Alternative names: Natural killer cells protein 4, Tumor necrosis factor alpha-inducing factor
All UniProt accessions (7): P24001, C6GKH1, E9PIV2, E9PK07, F8VSD2, F8VVN4, F8W1V1
UniProt curated annotations — full annotation on UniProt →
Function. Cytokine that may play a role in innate and adaptive immune responses. It induces various cytokines such as TNFA/TNF and IL8. It activates typical cytokine signal pathways of NF-kappa-B and p38 MAPK.
Subcellular location. Secreted.
Tissue specificity. Selectively expressed in lymphocytes. Expression is more prominent in immune cells than in non-immune cells.
Induction. Expression increased after activation of T-cells by mitogens or activation of NK cells by IL2/interleukin-2.
Isoforms (7)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P24001-1 | 1, Gamma | yes |
| P24001-2 | 2, Beta | |
| P24001-3 | 3, Delta | |
| P24001-4 | 4, Alpha | |
| P24001-5 | 5 | |
| P24001-6 | 6 | |
| P24001-7 | 7 |
RefSeq proteins (19): NP_001012649, NP_001012650, NP_001012651, NP_001012652, NP_001012653, NP_001012654, NP_001012736, NP_001295007, NP_001356516, NP_001356517, NP_001356518, NP_001356519, NP_001356520, NP_001356521, NP_001356522, NP_001356524, NP_001356525, NP_001363852, NP_004212 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR028067 | IL-32 | Family |
Pfam: PF15225
UniProt features (13 total): splice variant 7, signal peptide 1, chain 1, sequence variant 1, sequence conflict 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P24001-F1 | 69.87 | 0.00 |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-449836 | Other interleukin signaling |
| R-HSA-9013423 | RAC3 GTPase cycle |
MSigDB gene sets: 225 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, MODULE_52, MODULE_169, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, MODULE_45, GOBP_NEGATIVE_REGULATION_OF_VIRAL_PROCESS, MODULE_128, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, CHEOK_RESPONSE_TO_HD_MTX_UP, RIZKI_TUMOR_INVASIVENESS_3D_DN, HERNANDEZ_MITOTIC_ARREST_BY_DOCETAXEL_2_UP, HINATA_NFKB_TARGETS_KERATINOCYTE_UP, MISSIAGLIA_REGULATED_BY_METHYLATION_UP, HOSHIDA_LIVER_CANCER_SUBCLASS_S3, ROZANOV_MMP14_TARGETS_UP
GO Biological Process (7): defense response (GO:0006952), immune response (GO:0006955), cell adhesion (GO:0007155), positive regulation of gene expression (GO:0010628), positive regulation of type III interferon production (GO:0034346), negative regulation of viral life cycle (GO:1903901), signal transduction (GO:0007165)
GO Molecular Function (2): cytokine activity (GO:0005125), protein binding (GO:0005515)
GO Cellular Component (4): obsolete extracellular space (GO:0005615), cytosol (GO:0005829), membrane (GO:0016020), extracellular region (GO:0005576)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Signaling by Interleukins | 1 |
| RHO GTPase cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cellular process | 2 |
| response to stress | 1 |
| immune system process | 1 |
| response to stimulus | 1 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| positive regulation of cytokine production | 1 |
| type III interferon production | 1 |
| regulation of type III interferon production | 1 |
| viral life cycle | 1 |
| negative regulation of viral process | 1 |
| regulation of viral life cycle | 1 |
| cell communication | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| receptor ligand activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
1242 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IL32 | ITGB3 | P05106 | 962 |
| IL32 | MET | P08581 | 921 |
| IL32 | PRTN3 | P15637 | 871 |
| IL32 | IL18RAP | O95256 | 807 |
| IL32 | CXCL8 | P10145 | 722 |
| IL32 | IL18 | Q14116 | 704 |
| IL32 | TNF | P01375 | 701 |
| IL32 | HGF | P14210 | 700 |
| IL32 | IFNG | P01579 | 681 |
| IL32 | CCL5 | P13501 | 659 |
| IL32 | DNAJA2 | O60884 | 645 |
| IL32 | IL17A | Q16552 | 643 |
| IL32 | IL22 | Q9GZX6 | 629 |
| IL32 | CXCL2 | P19875 | 627 |
| IL32 | GZMA | P12544 | 595 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IL32 | RHBDD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MEP1B | IL32 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IL32 | STX6 | psi-mi:“MI:0914”(association) | 0.350 |
| IL32 | RHBDD2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| IL32 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (35): IL32 (Two-hybrid), ZBTB16 (Two-hybrid), ZFPM2 (Two-hybrid), C1QB (Two-hybrid), NQO2 (Two-hybrid), KPNA5 (Two-hybrid), HSPA8 (Two-hybrid), TUT1 (Two-hybrid), NDN (Two-hybrid), SNRNP70 (Two-hybrid), RPL4 (Two-hybrid), PRKCD (Affinity Capture-Western), PRKCE (Affinity Capture-Western), ZBTB16 (Affinity Capture-Western), BCL6 (Affinity Capture-Western)
ESM2 similar proteins: A0A096P2H6, A0A0D9S1R4, A0A2Y9GDB5, A0JNN2, A8MXV6, D2H5P6, E1BLZ4, E1C7U0, P0DKW1, P0DKW2, P0DKW3, P0DKW4, P0DKY3, P0DML4, P0DML5, P0DML6, P0DMN8, P0DOC4, P0DP53, P0DTG9, P0DTH0, P0DTH1, P0DTH2, P0DTH3, P0DTH4, P0DUP6, P24001, P55056, P55797, Q2TBQ4, Q32KP7, Q3SYR5, Q5EAA5, Q5JX69, Q5R7E2, Q5U2R2, Q68DK2, Q6MG51, Q6P0A1, Q6UJB9
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| DNMT1 | “down-regulates quantity by repression” | IL32 | “transcriptional regulation” |
| DNMT3B | “down-regulates quantity by repression” | IL32 | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
99 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 56 |
| Likely benign | 7 |
| Benign | 8 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 564258 | GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3 | Pathogenic |
SpliceAI
742 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:3067372:CGCA:C | acceptor_loss | 1.0000 |
| 16:3067373:GCA:G | acceptor_loss | 1.0000 |
| 16:3067374:CA:C | acceptor_loss | 1.0000 |
| 16:3067375:A:AG | acceptor_gain | 1.0000 |
| 16:3067375:A:C | acceptor_loss | 1.0000 |
| 16:3067376:G:GA | acceptor_gain | 1.0000 |
| 16:3067376:GGTC:G | acceptor_gain | 1.0000 |
| 16:3067376:GGTCC:G | acceptor_gain | 1.0000 |
| 16:3067413:ATGGT:A | donor_loss | 1.0000 |
| 16:3067415:GGTA:G | donor_loss | 1.0000 |
| 16:3067416:G:T | donor_loss | 1.0000 |
| 16:3067417:T:G | donor_loss | 1.0000 |
| 16:3068175:CCCA:C | acceptor_loss | 1.0000 |
| 16:3068178:A:AG | acceptor_gain | 1.0000 |
| 16:3068179:G:GG | acceptor_gain | 1.0000 |
| 16:3068179:GGAC:G | acceptor_gain | 1.0000 |
| 16:3068235:ACCCA:A | donor_gain | 1.0000 |
| 16:3068236:CCCA:C | donor_gain | 1.0000 |
| 16:3068237:CCA:C | donor_gain | 1.0000 |
| 16:3068238:CA:C | donor_gain | 1.0000 |
| 16:3068239:AGT:A | donor_loss | 1.0000 |
| 16:3068240:G:GG | donor_gain | 1.0000 |
| 16:3068240:G:T | donor_loss | 1.0000 |
| 16:3068243:AG:A | donor_loss | 1.0000 |
| 16:3068244:G:GG | donor_gain | 1.0000 |
| 16:3068988:A:AG | acceptor_gain | 1.0000 |
| 16:3068988:AG:A | acceptor_gain | 1.0000 |
| 16:3068989:G:GC | acceptor_loss | 1.0000 |
| 16:3068989:G:GG | acceptor_gain | 1.0000 |
| 16:3068989:GG:G | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000589099 (16:3067123 C>G,T), RS1000618208 (16:3068680 G>C,T), RS1000647392 (16:3066463 A>G), RS1000707909 (16:3064208 A>G), RS1000936896 (16:3067209 C>G,T), RS1001040107 (16:3063662 G>C), RS1001234616 (16:3066158 G>A,T), RS1001367350 (16:3066749 A>G), RS1001480181 (16:3069602 C>T), RS1001545909 (16:3063744 G>A), RS1001597122 (16:3069454 C>G), RS1001669597 (16:3068615 C>A,G,T), RS1001996339 (16:3063476 C>A,T), RS1002282960 (16:3064557 C>A,T), RS1002956573 (16:3065399 GCTCAGAGA>G)
Disease associations
OMIM: gene MIM:606001 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001353_1 | HIV-1 susceptibility | 8.000000e-06 |
| GCST90013405_80 | Liver enzyme levels (alanine transaminase) | 2.000000e-13 |
| GCST90013663_70 | Alanine aminotransferase levels | 3.000000e-12 |
| GCST90013664_100 | Aspartate aminotransferase levels | 3.000000e-12 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0000180 | HIV-1 infection |
| EFO:0004736 | aspartate aminotransferase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
84 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression, affects expression | 5 |
| bisphenol A | decreases expression, increases expression, affects expression | 3 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 3 |
| Arsenic | increases methylation, decreases response to substance, affects cotreatment, increases abundance, increases expression | 3 |
| Tetrachlorodibenzodioxin | increases expression, increases reaction | 3 |
| nickel sulfate | decreases expression, increases expression | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| Acetaminophen | affects cotreatment, increases expression, decreases expression | 2 |
| Air Pollutants | affects methylation, increases abundance, increases expression | 2 |
| Cisplatin | decreases expression, affects expression, affects cotreatment | 2 |
| Estradiol | affects expression, affects cotreatment, increases expression | 2 |
| Folic Acid | affects expression, affects response to substance, affects cotreatment, increases expression | 2 |
| Lipopolysaccharides | affects response to substance, affects cotreatment, increases expression | 2 |
| Methotrexate | affects cotreatment, increases expression, decreases expression | 2 |
| Nickel | increases expression | 2 |
| Silicon Dioxide | increases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| Particulate Matter | increases abundance, increases expression | 2 |
| Glupearl 19S | increases expression | 1 |
| beauvericin | affects cotreatment, decreases expression | 1 |
| propionaldehyde | increases expression | 1 |
| kaempferol | decreases reaction, increases activity, increases expression, increases secretion | 1 |
| titanium dioxide | affects expression | 1 |
| sulforaphane | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E2A0 | HAP1 IL32 (-) 2 | Cancer cell line | Male |
| CVCL_XP78 | HAP1 IL32 (-) 1 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.