RNF39
geneOn this page
Also known as HZFw1LIRFFAP216
Summary
RNF39 (ring finger protein 39, HGNC:18064) is a protein-coding gene on chromosome 6p22.1, encoding RING finger protein 39 (Q9H2S5). Plays an inhibitory role in anti-RNA viral innate immunity by targeting the adapter DDX3X and promoting its ‘Lys-48’-linked polyubiquitination.
This gene lies within the major histocompatibility complex class I region on chromosome 6. Studies of a similar rat protein suggest that this gene encodes a protein that plays a role in an early phase of synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 80352 — RefSeq curated summary.
At a glance
- GWAS associations: 30
- Clinical variants (ClinVar): 72 total
- MANE Select transcript:
NM_025236
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18064 |
| Approved symbol | RNF39 |
| Name | ring finger protein 39 |
| Location | 6p22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HZFw1, LIRF, FAP216 |
| Ensembl gene | ENSG00000204618 |
| Ensembl biotype | protein_coding |
| OMIM | 607524 |
| Entrez | 80352 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000244360, ENST00000376751
RefSeq mRNA: 2 — MANE Select: NM_025236
NM_025236, NM_170769
CCDS: CCDS4673, CCDS4674
Canonical transcript exons
ENST00000244360 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001704048 | 30073157 | 30073248 |
| ENSE00001741114 | 30073456 | 30073478 |
| ENSE00001825510 | 30075223 | 30075769 |
| ENSE00001893610 | 30070270 | 30071691 |
Expression profiles
Bgee: expression breadth ubiquitous, 130 present calls, max score 92.67.
Top tissues by expression
133 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skin of abdomen | UBERON:0001416 | 92.67 | gold quality |
| zone of skin | UBERON:0000014 | 92.27 | gold quality |
| skin of leg | UBERON:0001511 | 92.23 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 88.21 | gold quality |
| esophagus mucosa | UBERON:0002469 | 82.43 | gold quality |
| minor salivary gland | UBERON:0001830 | 82.37 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 82.19 | gold quality |
| vagina | UBERON:0000996 | 79.91 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 76.99 | gold quality |
| prostate gland | UBERON:0002367 | 72.95 | gold quality |
| right uterine tube | UBERON:0001302 | 72.28 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 71.73 | gold quality |
| body of stomach | UBERON:0001161 | 70.26 | gold quality |
| ectocervix | UBERON:0012249 | 70.06 | gold quality |
| esophagus | UBERON:0001043 | 69.90 | gold quality |
| stromal cell of endometrium | CL:0002255 | 69.58 | gold quality |
| cortical plate | UBERON:0005343 | 68.98 | gold quality |
| mammary gland | UBERON:0001911 | 68.96 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 68.96 | gold quality |
| uterine cervix | UBERON:0000002 | 68.69 | gold quality |
| tonsil | UBERON:0002372 | 68.52 | gold quality |
| stomach | UBERON:0000945 | 67.14 | gold quality |
| islet of Langerhans | UBERON:0000006 | 65.43 | gold quality |
| fundus of stomach | UBERON:0001160 | 65.22 | gold quality |
| endocervix | UBERON:0000458 | 64.99 | gold quality |
| right lung | UBERON:0002167 | 64.98 | gold quality |
| urinary bladder | UBERON:0001255 | 63.35 | gold quality |
| pancreas | UBERON:0001264 | 63.24 | gold quality |
| ganglionic eminence | UBERON:0004023 | 63.20 | gold quality |
| fallopian tube | UBERON:0003889 | 63.03 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.93 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
63 targeting RNF39, 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-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-5682 | 99.89 | 72.56 | 1005 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-1976 | 99.74 | 65.48 | 1127 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-12131 | 99.48 | 68.72 | 1673 |
| HSA-MIR-6871-3P | 99.43 | 68.85 | 741 |
| HSA-MIR-940 | 99.37 | 66.14 | 2064 |
| HSA-MIR-6808-5P | 99.31 | 66.23 | 2150 |
| HSA-MIR-6893-5P | 99.31 | 66.25 | 2119 |
| HSA-MIR-8065 | 99.19 | 70.38 | 1289 |
| HSA-MIR-4784 | 99.15 | 67.41 | 1733 |
| HSA-MIR-3152-3P | 99.10 | 66.35 | 678 |
| HSA-MIR-4434 | 99.10 | 67.01 | 1984 |
| HSA-MIR-5703 | 99.10 | 67.09 | 2053 |
Literature-anchored findings (GeneRIF, showing 3)
- these findings suggest that RNF39 and TRIM39 are involved in the etiology of Behcet’s disease. (PMID:20875797)
- Results identified RNF39 as cis methylation quantitative trait loci in both allergic rhinitis and asthma. (PMID:28149331)
- The findings provide evidence that hypermethylation in an independent MHC locus, RNF39, is also associated with relapsing-remitting multiple sclerosis. (PMID:28729889)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Rnf39 | ENSMUSG00000036492 |
| rattus_norvegicus | Rnf39 | ENSRNOG00000000781 |
| rattus_norvegicus | ENSRNOG00000079068 |
Paralogs (80): MID2 (ENSG00000080561), TRIM9 (ENSG00000100505), MID1 (ENSG00000101871), MEFV (ENSG00000103313), TRIM35 (ENSG00000104228), TRIM14 (ENSG00000106785), TRIM37 (ENSG00000108395), TRIM2 (ENSG00000109654), TRIM3 (ENSG00000110171), TRIM38 (ENSG00000112343), TRIM62 (ENSG00000116525), TRIM67 (ENSG00000119283), TRIM32 (ENSG00000119401), BSPRY (ENSG00000119411), TRIM25 (ENSG00000121060), TRIM6 (ENSG00000121236), TRIM24 (ENSG00000122779), TRIM51 (ENSG00000124900), TRIM28 (ENSG00000130726), TRIM21 (ENSG00000132109), TRIM5 (ENSG00000132256), TRIM22 (ENSG00000132274), TRIM47 (ENSG00000132481), TRIM45 (ENSG00000134253), TRIM29 (ENSG00000137699), TRIM54 (ENSG00000138100), PML (ENSG00000140464), TRIM65 (ENSG00000141569), TRIM43B (ENSG00000144010), TRIM43 (ENSG00000144015), TRIM7 (ENSG00000146054), TRIM41 (ENSG00000146063), TRIM50 (ENSG00000146755), TRIM4 (ENSG00000146833), TRIM55 (ENSG00000147573), TRIM48 (ENSG00000150244), TRIM36 (ENSG00000152503), TRIM11 (ENSG00000154370), TRIM74 (ENSG00000155428), TRIM42 (ENSG00000155890)
Protein
Protein identifiers
RING finger protein 39 — Q9H2S5 (reviewed: Q9H2S5)
Alternative names: Protein HZFw
All UniProt accessions (1): Q9H2S5
UniProt curated annotations — full annotation on UniProt →
Function. Plays an inhibitory role in anti-RNA viral innate immunity by targeting the adapter DDX3X and promoting its ‘Lys-48’-linked polyubiquitination. Alternatively, enhances the cGAS-STING pathway activation by promoting ‘Lys-63’-linked ubiquitination of STING1, facilitating the STING1-TBK1 complex formation and STING1 activation. (Microbial infection) Plays a positive role in human immunodeficiency virus (HIV-1) replication.
Subcellular location. Cytoplasm.
Tissue specificity. Expressed in testis.
Pathway. Protein modification; protein ubiquitination.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H2S5-1 | 1, HZFW1 | yes |
| Q9H2S5-2 | 2, HZFW2 | |
| Q9H2S5-3 | 3, HZFW3 |
RefSeq proteins (2): NP_079512, NP_739575 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001841 | Znf_RING | Domain |
| IPR001870 | B30.2/SPRY | Domain |
| IPR003877 | SPRY_dom | Domain |
| IPR003879 | Butyrophylin_SPRY | Domain |
| IPR006574 | PRY | Domain |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR013320 | ConA-like_dom_sf | Homologous_superfamily |
| IPR017907 | Znf_RING_CS | Conserved_site |
| IPR027370 | Znf-RING_euk | Domain |
| IPR043136 | B30.2/SPRY_sf | Homologous_superfamily |
| IPR050143 | TRIM/RBCC | Family |
Pfam: PF00622, PF13445, PF13765
UniProt features (11 total): sequence variant 4, splice variant 3, chain 1, domain 1, mutagenesis site 1, zinc finger region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H2S5-F1 | 66.27 | 0.25 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 108 | complete loss of e3 ligase activity. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 122 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, XU_GH1_AUTOCRINE_TARGETS_UP, NKX25_02, CHX10_01, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, SRF_C, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_UP, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION
GO Biological Process (7): negative regulation of cytoplasmic pattern recognition receptor signaling pathway (GO:0039532), innate immune response (GO:0045087), protein K63-linked ubiquitination (GO:0070534), positive regulation of cGAS/STING signaling pathway (GO:0141111), cytoplasmic pattern recognition receptor signaling pathway (GO:0002753), positive regulation of type I interferon production (GO:0032481), cGAS/STING signaling pathway (GO:0140896)
GO Molecular Function (5): zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (1): cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasmic pattern recognition receptor signaling pathway | 2 |
| regulation of cytoplasmic pattern recognition receptor signaling pathway | 2 |
| positive regulation of cytokine production | 2 |
| negative regulation of immune system process | 1 |
| negative regulation of intracellular signal transduction | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| protein polyubiquitination | 1 |
| positive regulation of pattern recognition receptor signaling pathway | 1 |
| cGAS/STING signaling pathway | 1 |
| positive regulation of intracellular signal transduction | 1 |
| pattern recognition receptor signaling pathway | 1 |
| intracellular receptor signaling pathway | 1 |
| regulation of type I interferon production | 1 |
| type I interferon production | 1 |
| transition metal ion binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
761 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RNF39 | HLA-F | P30511 | 796 |
| RNF39 | POLR1H | Q9P1U0 | 708 |
| RNF39 | HLA-A | P01891 | 682 |
| RNF39 | C10orf105 | Q8TEF2 | 578 |
| RNF39 | TCF19 | Q9Y242 | 560 |
| RNF39 | CFAP92 | Q9ULG3 | 515 |
| RNF39 | TRIM31 | Q9BZY9 | 513 |
| RNF39 | CDSN | Q15517 | 494 |
| RNF39 | CCHCR1 | Q8TD31 | 491 |
| RNF39 | ZFP57 | Q9NU63 | 447 |
| RNF39 | ABCF1 | Q8NE71 | 440 |
| RNF39 | PPP1R11 | O60927 | 435 |
| RNF39 | PSMC5 | P47210 | 433 |
| RNF39 | ZNF57 | Q68EA5 | 428 |
| RNF39 | PRKACA | P17612 | 421 |
| RNF39 | PRKACG | P22612 | 421 |
IntAct
22 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RNF39 | DNAAF6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT27 | RNF39 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA6L9 | RNF39 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RABEP1 | RNF39 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AP1B1 | RNF39 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MORN3 | RNF39 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RINT1 | RNF39 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF39 | DNAAF6 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RNF39 | KRT27 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RNF39 | GOLGA6L9 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RNF39 | RABEP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RNF39 | AP1B1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RNF39 | MORN3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RNF39 | RINT1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (10): RNF39 (Two-hybrid), RNF39 (Two-hybrid), RNF39 (Two-hybrid), RNF39 (Two-hybrid), RNF39 (Two-hybrid), RNF39 (Two-hybrid), RNF39 (Two-hybrid), RNF39 (Affinity Capture-Western), RNF39 (Affinity Capture-Western), TP53 (Affinity Capture-Western)
ESM2 similar proteins: A0A0U1RR11, A0A0U1RRI6, A6NCS6, A6NJG2, B0BN44, D3YXK1, E9PY61, E9Q0B3, F5H4A9, O00220, O00221, P09038, P0DPI3, P22083, P98077, Q08AU9, Q2M2W7, Q2M3V2, Q2TBI2, Q5F267, Q5FW56, Q5IS69, Q5R866, Q5T4W7, Q5TM52, Q5U4P2, Q5VTJ3, Q659K9, Q673H1, Q69ZB3, Q6AYE8, Q6IPT2, Q6PJ61, Q7RTU4, Q7TSX9, Q7YR31, Q80SU3, Q86SH2, Q86Y97, Q8NBR0
Diamond homologs: A0A3B3IT33, A0JN74, A2XK56, A4QPC6, A6NCK2, A6NDI0, A6NGJ6, A6NI03, A6NLI5, A6NLU0, B1H278, B8B5U8, C9J1S8, D3YY23, D3Z8N2, F8VTS6, I1YAP6, O00478, O00481, O13033, O54952, O60106, O76064, P0CI25, P0CI26, P18892, P19474, P38398, P48754, P82456, P86448, P86449, Q14258, Q14527, Q1XHT8, Q28DS3, Q2HJ46, Q3C1V9, Q3TL54, Q4KLN8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | RNF39 | ubiquitination |
Disease & clinical
Clinical variants and AI predictions
ClinVar
72 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 55 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
740 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:30073151:CCTTA:C | donor_loss | 1.0000 |
| 6:30073152:CTTA:C | donor_loss | 1.0000 |
| 6:30073153:TTACC:T | donor_loss | 1.0000 |
| 6:30073154:TA:T | donor_loss | 1.0000 |
| 6:30073155:A:AG | donor_loss | 1.0000 |
| 6:30073156:C:CT | donor_loss | 1.0000 |
| 6:30073156:CCTGT:C | donor_gain | 1.0000 |
| 6:30073244:CAAAT:C | acceptor_gain | 1.0000 |
| 6:30073245:AAAT:A | acceptor_gain | 1.0000 |
| 6:30073246:AAT:A | acceptor_gain | 1.0000 |
| 6:30073247:AT:A | acceptor_gain | 1.0000 |
| 6:30073249:C:CC | acceptor_gain | 1.0000 |
| 6:30073250:T:A | acceptor_loss | 1.0000 |
| 6:30073254:C:CT | acceptor_gain | 1.0000 |
| 6:30073489:C:CT | acceptor_gain | 1.0000 |
| 6:30073490:A:T | acceptor_gain | 1.0000 |
| 6:30071689:CGG:C | acceptor_gain | 0.9900 |
| 6:30071692:C:CC | acceptor_gain | 0.9900 |
| 6:30071699:C:CT | acceptor_gain | 0.9900 |
| 6:30073155:A:AC | donor_gain | 0.9900 |
| 6:30073156:C:CC | donor_gain | 0.9900 |
| 6:30073246:AATCT:A | acceptor_gain | 0.9900 |
| 6:30073247:ATCT:A | acceptor_gain | 0.9900 |
| 6:30073255:A:T | acceptor_gain | 0.9900 |
| 6:30073257:A:AC | acceptor_gain | 0.9900 |
| 6:30073257:A:C | acceptor_gain | 0.9900 |
| 6:30073451:CTCA:C | donor_loss | 0.9900 |
| 6:30073452:TCA:T | donor_loss | 0.9900 |
| 6:30073453:CA:C | donor_loss | 0.9900 |
| 6:30073454:A:AC | donor_gain | 0.9900 |
AlphaMissense
2654 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:30071204:G:C | F390L | 0.993 |
| 6:30071204:G:T | F390L | 0.993 |
| 6:30071206:A:G | F390L | 0.993 |
| 6:30071516:C:A | W286C | 0.993 |
| 6:30071516:C:G | W286C | 0.993 |
| 6:30071240:G:C | F378L | 0.991 |
| 6:30071240:G:T | F378L | 0.991 |
| 6:30071242:A:G | F378L | 0.991 |
| 6:30071573:G:C | F267L | 0.991 |
| 6:30071573:G:T | F267L | 0.991 |
| 6:30071575:A:G | F267L | 0.991 |
| 6:30075528:A:G | C88R | 0.991 |
| 6:30071518:A:G | W286R | 0.990 |
| 6:30071518:A:T | W286R | 0.990 |
| 6:30075467:C:T | C108Y | 0.989 |
| 6:30071241:A:G | F378S | 0.988 |
| 6:30075469:G:C | F107L | 0.988 |
| 6:30075469:G:T | F107L | 0.988 |
| 6:30075471:A:G | F107L | 0.988 |
| 6:30075352:A:C | N146K | 0.986 |
| 6:30075352:A:T | N146K | 0.986 |
| 6:30075468:A:G | C108R | 0.986 |
| 6:30071280:A:G | I365T | 0.985 |
| 6:30075497:G:T | P98Q | 0.984 |
| 6:30075326:A:G | I155T | 0.983 |
| 6:30075466:G:C | C108W | 0.983 |
| 6:30075527:C:T | C88Y | 0.983 |
| 6:30075472:G:C | S106R | 0.982 |
| 6:30075472:G:T | S106R | 0.982 |
| 6:30075474:T:G | S106R | 0.982 |
dbSNP variants (sampled 300 via entrez): RS1000209541 (6:30074167 C>G), RS1000302971 (6:30074377 G>A), RS1000417246 (6:30071585 G>A), RS1000542037 (6:30072388 A>G), RS1000750123 (6:30072941 C>A), RS1001215432 (6:30075423 C>G,T), RS1001589928 (6:30071047 T>G), RS1001768790 (6:30077159 T>C), RS1003057991 (6:30072281 G>A), RS1003366347 (6:30071494 C>A,T), RS1003387282 (6:30070680 A>G), RS1004735656 (6:30076395 T>G), RS1006168389 (6:30071919 G>A), RS1006211776 (6:30076803 C>A,T), RS1006829034 (6:30070188 C>T)
Disease associations
OMIM: gene MIM:607524 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
30 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000308_3 | AIDS progression | 5.000000e-07 |
| GCST000549_24 | HIV-1 control | 2.000000e-08 |
| GCST002324_6 | Anger | 8.000000e-07 |
| GCST004521_12 | Autism spectrum disorder or schizophrenia | 2.000000e-12 |
| GCST004521_121 | Autism spectrum disorder or schizophrenia | 3.000000e-13 |
| GCST004521_171 | Autism spectrum disorder or schizophrenia | 4.000000e-14 |
| GCST004521_177 | Autism spectrum disorder or schizophrenia | 3.000000e-12 |
| GCST004521_2 | Autism spectrum disorder or schizophrenia | 2.000000e-16 |
| GCST004521_210 | Autism spectrum disorder or schizophrenia | 5.000000e-15 |
| GCST004521_216 | Autism spectrum disorder or schizophrenia | 5.000000e-13 |
| GCST004521_218 | Autism spectrum disorder or schizophrenia | 5.000000e-11 |
| GCST004521_247 | Autism spectrum disorder or schizophrenia | 4.000000e-09 |
| GCST004521_263 | Autism spectrum disorder or schizophrenia | 7.000000e-17 |
| GCST004521_268 | Autism spectrum disorder or schizophrenia | 7.000000e-12 |
| GCST004521_269 | Autism spectrum disorder or schizophrenia | 7.000000e-11 |
| GCST004521_295 | Autism spectrum disorder or schizophrenia | 6.000000e-18 |
| GCST004521_3 | Autism spectrum disorder or schizophrenia | 2.000000e-15 |
| GCST004521_44 | Autism spectrum disorder or schizophrenia | 2.000000e-17 |
| GCST004521_51 | Autism spectrum disorder or schizophrenia | 9.000000e-14 |
| GCST004521_56 | Autism spectrum disorder or schizophrenia | 1.000000e-22 |
| GCST004521_58 | Autism spectrum disorder or schizophrenia | 1.000000e-17 |
| GCST004521_59 | Autism spectrum disorder or schizophrenia | 1.000000e-11 |
| GCST004521_70 | Autism spectrum disorder or schizophrenia | 8.000000e-20 |
| GCST004521_79 | Autism spectrum disorder or schizophrenia | 1.000000e-16 |
| GCST004521_80 | Autism spectrum disorder or schizophrenia | 1.000000e-15 |
| GCST004521_92 | Autism spectrum disorder or schizophrenia | 1.000000e-11 |
| GCST004623_17 | Neutrophil percentage of granulocytes | 2.000000e-30 |
| GCST006269_1232 | General cognitive ability | 5.000000e-08 |
| GCST008436_1 | Nonobstructive coronary artery disease | 7.000000e-07 |
| GCST009391_776 | Metabolite levels | 7.000000e-06 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0000180 | HIV-1 infection |
| EFO:0003015 | aggressive behavior |
| EFO:0007994 | neutrophil percentage of granulocytes |
| EFO:0004337 | intelligence |
| EFO:1001483 | non-obstructive coronary artery disease |
| EFO:0010393 | sphingomyelin 18:0 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Phthalic Acids | affects methylation, decreases methylation, increases abundance | 2 |
| Silicon Dioxide | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| aminomethylphosphonic acid (AMPA) | affects methylation, increases abundance | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| mono-(2-ethylhexyl)phthalate | decreases methylation, increases abundance | 1 |
| 1-hydroxypyrene | affects cotreatment, decreases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| Decitabine | affects expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Glyphosate | increases abundance, affects methylation | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Cadmium | decreases expression | 1 |
| Calcitriol | increases expression | 1 |
| Cisplatin | affects expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Nickel | decreases expression | 1 |
| Smoke | increases expression | 1 |
| Sodium Dodecyl Sulfate | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Asbestos, Crocidolite | increases expression | 1 |
| Metals, Heavy | affects cotreatment, decreases methylation | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Okadaic Acid | 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): AIDS