ILRUN
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Also known as FLJ22195dJ391O22.4
Summary
ILRUN (inflammation and lipid regulator with UBA-like and NBR1-like domains, HGNC:21215) is a protein-coding gene on chromosome 6p21.31, encoding Protein ILRUN (Q9H6K1). Negative regulator of innate antiviral response.
This gene encodes a protein with N-terminal ubiquitin-associated (UBA)-like and central neighbor of BRCA1 gene 1 (NBR1)-like domains. The protein acts an inhibitor of antiviral and proinflammatory cytokine transcription and as a regulator of the renin-angiotensin-aldosterone system (RAAS).
Source: NCBI Gene 64771 — RefSeq curated summary.
At a glance
- GWAS associations: 75
- Clinical variants (ClinVar): 6 total
- MANE Select transcript:
NM_024294
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21215 |
| Approved symbol | ILRUN |
| Name | inflammation and lipid regulator with UBA-like and NBR1-like domains |
| Location | 6p21.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ22195, dJ391O22.4 |
| Ensembl gene | ENSG00000196821 |
| Ensembl biotype | protein_coding |
| OMIM | 612217 |
| Entrez | 64771 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 8 protein_coding
ENST00000374021, ENST00000374023, ENST00000374026, ENST00000857868, ENST00000857869, ENST00000857870, ENST00000857871, ENST00000943487
RefSeq mRNA: 2 — MANE Select: NM_024294
NM_022758, NM_024294
CCDS: CCDS4795, CCDS4796
Canonical transcript exons
ENST00000374023 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000929510 | 34646601 | 34646798 |
| ENSE00001429798 | 34606555 | 34606904 |
| ENSE00001462187 | 34696446 | 34696767 |
| ENSE00001462194 | 34587288 | 34590600 |
| ENSE00003685125 | 34654625 | 34654779 |
Expression profiles
Bgee: expression breadth ubiquitous, 290 present calls, max score 97.89.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.8901 / max 204.1649, expressed in 1788 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 73262 | 6.7520 | 1735 |
| 73264 | 1.8309 | 930 |
| 73265 | 0.4292 | 218 |
| 73261 | 0.3801 | 158 |
| 73260 | 0.2605 | 107 |
| 73263 | 0.1662 | 67 |
| 73259 | 0.0711 | 39 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gastrocnemius | UBERON:0001388 | 97.89 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 97.74 | gold quality |
| muscle of leg | UBERON:0001383 | 97.66 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.62 | gold quality |
| medial globus pallidus | UBERON:0002477 | 96.53 | gold quality |
| buccal mucosa cell | CL:0002336 | 96.45 | gold quality |
| muscle organ | UBERON:0001630 | 96.20 | gold quality |
| islet of Langerhans | UBERON:0000006 | 96.17 | gold quality |
| apex of heart | UBERON:0002098 | 96.17 | gold quality |
| right testis | UBERON:0004534 | 95.89 | gold quality |
| left testis | UBERON:0004533 | 95.77 | gold quality |
| globus pallidus | UBERON:0001875 | 95.56 | gold quality |
| heart left ventricle | UBERON:0002084 | 95.17 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 95.09 | gold quality |
| amniotic fluid | UBERON:0000173 | 95.07 | gold quality |
| right frontal lobe | UBERON:0002810 | 95.06 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.04 | gold quality |
| cardiac ventricle | UBERON:0002082 | 95.02 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.90 | gold quality |
| right atrium auricular region | UBERON:0006631 | 94.79 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 94.69 | gold quality |
| testis | UBERON:0000473 | 94.60 | gold quality |
| tendon | UBERON:0000043 | 94.57 | gold quality |
| lower esophagus | UBERON:0013473 | 94.37 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 94.36 | gold quality |
| prefrontal cortex | UBERON:0000451 | 94.33 | gold quality |
| right lobe of liver | UBERON:0001114 | 94.28 | gold quality |
| heart | UBERON:0000948 | 94.15 | gold quality |
| cardiac atrium | UBERON:0002081 | 94.11 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 94.09 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.65 |
| E-GEOD-110499 | no | 331.36 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
208 targeting ILRUN, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
Literature-anchored findings (GeneRIF, showing 9)
- Ethanol, but not acetaldehyde, inhibited PPAR-beta transactivation. (PMID:18003597)
- DSCR2 was found to interact with PPARbeta and to inhibit it. (PMID:18793612)
- up-regulated expression by repetitive low-grade oxidative stress through p38MAPK or NF-kappaB pathways (PMID:19059477)
- C6orf106 promotes invasion in NSCLC cells. Finally, C6orf106 upregulates vimentin, and downregulates E-cadherin and P120ctn. (PMID:25736925)
- High C6orf106 expression was significantly correlated with lymph node metastasis in triple-negative breast cancer. (PMID:25953261)
- High C6orf106 expression is associated with innate antiviral response. (PMID:29802199)
- C6orf106 facilitates invasion and proliferation of pancreatic cancer cells, likely via activating ERK-P90RSK signaling pathway. (PMID:30311108)
- we detected a novel obesity and BMI-associated locus at PKHD1 and novel variants driving associations at previously established signals (e.g. rs205262 at the SNRPC/C6orf106 locus and rs112446794 at the PRDM6-CEP120 locus). (PMID:30677029)
- ILRUN Downregulates ACE2 Expression and Blocks Infection of Human Cells by SARS-CoV-2. (PMID:33963054)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ilrun | ENSDARG00000078075 |
| mus_musculus | Ilrun | ENSMUSG00000056692 |
| rattus_norvegicus | Ilrun | ENSRNOG00000038883 |
Protein
Protein identifiers
Protein ILRUN — Q9H6K1 (reviewed: Q9H6K1)
Alternative names: Inflammation and lipid regulator with UBA-like and NBR1-like domains protein
All UniProt accessions (2): Q9H6K1, Q5TH58
UniProt curated annotations — full annotation on UniProt →
Function. Negative regulator of innate antiviral response. Blocks IRF3-dependent cytokine production such as IFNA, IFNB and TNF. Interacts with IRF3 and inhibits IRF3 recruitment to type I IFN promoter sequences while also reducing nuclear levels of the coactivators EP300 and CREBBP.
Subunit / interactions. Interacts with IRF3; the interaction inhibits IRF3 binding to its DNA consensus sequence.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Expressed in lung (at protein level).
Induction. Expression is increased in presence of dsRNA such as poly(I:C).
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H6K1-1 | 1 | yes |
| Q9H6K1-2 | 2 |
RefSeq proteins (2): NP_073595, NP_077270* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009060 | UBA-like_sf | Homologous_superfamily |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR032350 | Nbr1_FW | Domain |
| IPR039517 | C6orf106_UBA-like | Domain |
Pfam: PF14555, PF16158
UniProt features (17 total): strand 8, modified residue 3, compositionally biased region 2, chain 1, region of interest 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6VHI | X-RAY DIFFRACTION | 2.46 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H6K1-F1 | 71.26 | 0.38 |
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): 215, 222, 272
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 233 (showing top):
ELVIDGE_HYPOXIA_DN, MODULE_255, GOBP_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS, AAGCCAT_MIR135A_MIR135B, MODULE_317, GOBP_NEGATIVE_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION, TGACCTY_ERR1_Q2, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_MACROAUTOPHAGY, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS, CAGCAGG_MIR370, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_NEGATIVE_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM
GO Biological Process (8): macroautophagy (GO:0016236), negative regulation of type I interferon production (GO:0032480), negative regulation of tumor necrosis factor production (GO:0032720), negative regulation of DNA binding (GO:0043392), innate immune response (GO:0045087), negative regulation of defense response to virus (GO:0050687), negative regulation of protein localization to nucleus (GO:1900181), immune system process (GO:0002376)
GO Molecular Function (2): ubiquitin binding (GO:0043130), protein binding (GO:0005515)
GO Cellular Component (6): phagophore assembly site (GO:0000407), nucleus (GO:0005634), cytoplasm (GO:0005737), centrosome (GO:0005813), cytosol (GO:0005829), nuclear speck (GO:0016607)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cytoplasm | 2 |
| autophagosome assembly | 1 |
| autophagy | 1 |
| negative regulation of cytokine production | 1 |
| regulation of type I interferon production | 1 |
| type I interferon production | 1 |
| tumor necrosis factor production | 1 |
| regulation of tumor necrosis factor production | 1 |
| negative regulation of tumor necrosis factor superfamily cytokine production | 1 |
| DNA binding | 1 |
| negative regulation of binding | 1 |
| regulation of DNA binding | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| negative regulation of response to biotic stimulus | 1 |
| negative regulation of defense response | 1 |
| negative regulation of response to external stimulus | 1 |
| regulation of defense response to virus | 1 |
| defense response to virus | 1 |
| protein localization to nucleus | 1 |
| regulation of protein localization to nucleus | 1 |
| negative regulation of protein localization | 1 |
| biological_process | 1 |
| ubiquitin-like protein binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| nuclear ribonucleoprotein granule | 1 |
Protein interactions and networks
STRING
566 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ILRUN | BLTP3A | Q6BDS2 | 588 |
| ILRUN | A0A2U3TZT1 | A0A2U3TZT1 | 575 |
| ILRUN | NUDT3 | O95989 | 542 |
| ILRUN | SPDEF | O95238 | 476 |
| ILRUN | C17orf67 | Q0P5P2 | 446 |
| ILRUN | SNRPC | P09234 | 428 |
| ILRUN | RSRC2 | Q7L4I2 | 401 |
| ILRUN | TDP2 | O95551 | 381 |
| ILRUN | PACSIN1 | Q9BY11 | 377 |
| ILRUN | SCMH1 | Q96GD3 | 370 |
| ILRUN | C3orf38 | Q5JPI3 | 368 |
| ILRUN | ZBTB38 | Q8NAP3 | 356 |
| ILRUN | ZNF704 | Q6ZNC4 | 350 |
| ILRUN | DYM | Q7RTS9 | 349 |
| ILRUN | FAM219B | Q5XKK7 | 349 |
IntAct
14 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HSPA8 | GAK | psi-mi:“MI:0914”(association) | 0.760 |
| MCOLN1 | MCOLN2 | psi-mi:“MI:0914”(association) | 0.530 |
| BAG2 | HGS | psi-mi:“MI:0914”(association) | 0.530 |
| ILRUN | RPSA | psi-mi:“MI:0915”(physical association) | 0.370 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| HSPBP1 | HGS | psi-mi:“MI:0914”(association) | 0.350 |
| STK26 | psi-mi:“MI:0914”(association) | 0.350 | |
| hspa1a_hspa1b_human-1 | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| HSPA8 | SBNO1 | psi-mi:“MI:0914”(association) | 0.350 |
| HSPA8 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| ILRUN | UBA1 | psi-mi:“MI:0220”(ubiquitination reaction) | 0.000 |
BioGRID (19): C6orf106 (Biochemical Activity), C6orf106 (Affinity Capture-MS), C6orf106 (Biochemical Activity), C6orf106 (Affinity Capture-MS), C6orf106 (Affinity Capture-MS), C6orf106 (Affinity Capture-RNA), C6orf106 (Affinity Capture-RNA), UBC (Affinity Capture-Western), PPARA (Affinity Capture-Western), PPARG (Affinity Capture-Western), C6orf106 (Affinity Capture-MS), C6orf106 (Affinity Capture-MS), C6orf106 (Affinity Capture-MS), C6orf106 (Affinity Capture-MS), C6orf106 (Affinity Capture-MS)
ESM2 similar proteins: A0A8M1NHK4, A3KFF6, A6H8J1, O49429, O80678, O80910, P12348, P55265, P94017, P97765, Q08B53, Q13434, Q32SG5, Q3T1I4, Q3TJZ6, Q3UMQ8, Q3UPH1, Q4R3M1, Q5F3N9, Q5FWT1, Q5R679, Q5XJA3, Q5Z8L1, Q66H68, Q6ICG8, Q6P870, Q7G6K7, Q7ZYB4, Q8AVN9, Q8LA32, Q8R478, Q8R4X3, Q93YP4, Q94JZ8, Q969T9, Q96M27, Q9C5P0, Q9C6S1, Q9D529, Q9FF15
Diamond homologs: M1BJF6, P97432, Q14596, Q3TT38, Q501R9, Q5BL31, Q5F3N9, Q5RC94, Q9H6K1, Q9SB64
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SMURF1 | unknown | ILRUN | ubiquitination |
Disease & clinical
Clinical variants and AI predictions
ClinVar
6 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 2 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1485 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:34646598:CA:C | donor_loss | 1.0000 |
| 6:34646599:ACCT:A | donor_gain | 1.0000 |
| 6:34646600:CCTC:C | donor_gain | 1.0000 |
| 6:34646806:C:CT | acceptor_gain | 1.0000 |
| 6:34646807:A:T | acceptor_gain | 1.0000 |
| 6:34647433:C:A | donor_gain | 1.0000 |
| 6:34654620:CTTA:C | donor_gain | 1.0000 |
| 6:34654621:TTA:T | donor_loss | 1.0000 |
| 6:34654622:TA:T | donor_loss | 1.0000 |
| 6:34654623:A:AC | donor_gain | 1.0000 |
| 6:34654623:AC:A | donor_gain | 1.0000 |
| 6:34654624:C:CA | donor_gain | 1.0000 |
| 6:34654624:CC:C | donor_gain | 1.0000 |
| 6:34654624:CCA:C | donor_gain | 1.0000 |
| 6:34654624:CCAG:C | donor_gain | 1.0000 |
| 6:34654624:CCAGA:C | donor_gain | 1.0000 |
| 6:34654775:GGTTC:G | acceptor_gain | 1.0000 |
| 6:34654776:GTTC:G | acceptor_gain | 1.0000 |
| 6:34654777:TTC:T | acceptor_gain | 1.0000 |
| 6:34654778:TC:T | acceptor_gain | 1.0000 |
| 6:34654779:CC:C | acceptor_gain | 1.0000 |
| 6:34654780:C:CC | acceptor_gain | 1.0000 |
| 6:34654780:C:T | acceptor_gain | 1.0000 |
| 6:34654781:T:G | acceptor_loss | 1.0000 |
| 6:34654782:A:AC | acceptor_gain | 1.0000 |
| 6:34654782:A:C | acceptor_gain | 1.0000 |
| 6:34696440:GCTCA:G | donor_loss | 1.0000 |
| 6:34696441:CTCAC:C | donor_loss | 1.0000 |
| 6:34696442:TCAC:T | donor_loss | 1.0000 |
| 6:34696443:CA:C | donor_loss | 1.0000 |
AlphaMissense
1972 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:34606896:A:G | W174R | 1.000 |
| 6:34606896:A:T | W174R | 1.000 |
| 6:34646603:C:A | G170V | 1.000 |
| 6:34646603:C:T | G170E | 1.000 |
| 6:34646604:C:G | G170R | 1.000 |
| 6:34646604:C:T | G170R | 1.000 |
| 6:34646633:C:G | R160P | 1.000 |
| 6:34646635:C:A | W159C | 1.000 |
| 6:34646635:C:G | W159C | 1.000 |
| 6:34646636:C:G | W159S | 1.000 |
| 6:34646637:A:G | W159R | 1.000 |
| 6:34646637:A:T | W159R | 1.000 |
| 6:34646643:C:G | G157R | 1.000 |
| 6:34646643:C:T | G157R | 1.000 |
| 6:34646668:G:C | S148R | 1.000 |
| 6:34646668:G:T | S148R | 1.000 |
| 6:34646670:T:G | S148R | 1.000 |
| 6:34646681:A:T | V144D | 1.000 |
| 6:34646768:A:G | L115P | 1.000 |
| 6:34646768:A:T | L115H | 1.000 |
| 6:34646785:C:A | W109C | 1.000 |
| 6:34646785:C:G | W109C | 1.000 |
| 6:34646787:A:G | W109R | 1.000 |
| 6:34646787:A:T | W109R | 1.000 |
| 6:34654639:C:G | R100P | 1.000 |
| 6:34654641:C:A | W99C | 1.000 |
| 6:34654641:C:G | W99C | 1.000 |
| 6:34654642:C:G | W99S | 1.000 |
| 6:34654643:A:G | W99R | 1.000 |
| 6:34654643:A:T | W99R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000018719 (6:34635586 A>G), RS1000030053 (6:34631426 C>A), RS1000046463 (6:34644728 G>A,C), RS1000099588 (6:34604543 A>G), RS1000103682 (6:34622657 T>C), RS1000163018 (6:34629788 A>G), RS1000171823 (6:34673560 CATT>C), RS1000174315 (6:34688555 G>A), RS1000180333 (6:34671289 C>G,T), RS1000214843 (6:34587185 C>A), RS1000229661 (6:34694659 C>A), RS1000234433 (6:34671511 A>G,T), RS1000271472 (6:34654118 T>C), RS1000322227 (6:34621657 G>A,C), RS1000328324 (6:34593631 T>G)
Disease associations
OMIM: gene MIM:612217 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
75 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000174_18 | Height | 4.000000e-12 |
| GCST000372_16 | Height | 8.000000e-11 |
| GCST000755_24 | HDL cholesterol | 4.000000e-09 |
| GCST000760_43 | Cholesterol, total | 5.000000e-11 |
| GCST001876_2 | Pubertal anthropometrics | 9.000000e-08 |
| GCST001956_63 | Height | 8.000000e-13 |
| GCST002221_12 | Cholesterol, total | 4.000000e-15 |
| GCST002285_9 | Chagas cardiomyopathy in Tripanosoma cruzi seropositivity | 1.000000e-06 |
| GCST002783_262 | Body mass index | 3.000000e-10 |
| GCST002783_36 | Body mass index | 2.000000e-09 |
| GCST002783_617 | Body mass index | 2.000000e-10 |
| GCST004146_25 | Chronic lymphocytic leukemia | 2.000000e-08 |
| GCST004235_77 | Total cholesterol levels | 2.000000e-13 |
| GCST004495_10 | BMI (adjusted for smoking behaviour) | 3.000000e-07 |
| GCST004495_11 | BMI (adjusted for smoking behaviour) | 3.000000e-09 |
| GCST004497_82 | Body mass index (joint analysis main effects and smoking interaction) | 3.000000e-09 |
| GCST004497_83 | Body mass index (joint analysis main effects and smoking interaction) | 2.000000e-07 |
| GCST004499_14 | BMI in non-smokers | 3.000000e-07 |
| GCST004499_15 | BMI in non-smokers | 6.000000e-09 |
| GCST005195_144 | Coronary artery disease | 2.000000e-11 |
| GCST005196_96 | Coronary artery disease | 1.000000e-11 |
| GCST006612_103 | LDL cholesterol | 3.000000e-08 |
| GCST006802_28 | Body mass index | 2.000000e-09 |
| GCST007293_46 | Body fat distribution (arm fat ratio) | 2.000000e-06 |
| GCST007294_11 | Body fat distribution (trunk fat ratio) | 1.000000e-16 |
| GCST007294_30 | Body fat distribution (trunk fat ratio) | 1.000000e-09 |
| GCST007295_155 | Body fat distribution (leg fat ratio) | 1.000000e-24 |
| GCST007295_161 | Body fat distribution (leg fat ratio) | 5.000000e-16 |
| GCST008070_6 | HDL cholesterol levels | 4.000000e-07 |
| GCST008075_181 | HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 8.000000e-10 |
EFO canonical traits (22, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004574 | total cholesterol measurement |
| EFO:0001382 | puberty |
| EFO:0004340 | body mass index |
| EFO:0004318 | smoking behavior |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004341 | body fat distribution |
| EFO:0004329 | alcohol drinking |
| EFO:0004338 | body weight |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0010100 | multisite chronic pain |
| EFO:0000195 | metabolic syndrome |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004615 | apolipoprotein B measurement |
| EFO:0004918 | age at diagnosis |
| EFO:0006935 | thalamus volume |
| EFO:0004920 | progression free survival |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0004587 | lymphocyte count |
| EFO:0005091 | monocyte count |
| EFO:0004532 | serum gamma-glutamyl transferase measurement |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | increases expression, decreases expression | 2 |
| Valproic Acid | increases expression | 2 |
| Cadmium Chloride | increases abundance, increases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| bisphenol A | increases methylation | 1 |
| afimoxifene | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| nickel sulfate | increases expression | 1 |
| dimethylarsinous acid | increases expression | 1 |
| abrine | increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| Fulvestrant | decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Air Pollutants | increases expression, increases abundance | 1 |
| Benzo(a)pyrene | increases mutagenesis | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Selenium | increases expression | 1 |
| Thimerosal | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Lithium Chloride | increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
| Acrylamide | increases expression | 1 |
| Raloxifene Hydrochloride | decreases expression | 1 |
| Particulate Matter | increases abundance, increases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E1SX | HAP1 C6orf106 (-) 2 | Cancer cell line | Male |
| CVCL_E1SY | HAP1 C6orf106 (-) 3 | Cancer cell line | Male |
| CVCL_XM38 | HAP1 C6orf106 (-) 1 | Cancer cell line | Male |
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): B-cell chronic lymphocytic leukemia, Chagas cardiomyopathy, essential hypertension