RNF38
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Summary
RNF38 (ring finger protein 38, HGNC:18052) is a protein-coding gene on chromosome 9p13.2, encoding E3 ubiquitin-protein ligase RNF38 (Q9H0F5). Acts as an E3 ubiquitin-protein ligase able to ubiquitinate p53/TP53 which promotes its relocalization to discrete foci associated with PML nuclear bodies.
This gene encodes a protein with a coiled-coil motif and a RING-H2 motif (C3H2C2) at its carboxy-terminus. The RING motif is a zinc-binding domain found in a large set of proteins playing roles in diverse cellular processes including oncogenesis, development, signal transduction, and apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 152006 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 82 total
- MANE Select transcript:
NM_022781
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18052 |
| Approved symbol | RNF38 |
| Name | ring finger protein 38 |
| Location | 9p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000137075 |
| Ensembl biotype | protein_coding |
| OMIM | 612488 |
| Entrez | 152006 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 7 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000259605, ENST00000350199, ENST00000353739, ENST00000357058, ENST00000377877, ENST00000377885, ENST00000484621, ENST00000488058, ENST00000491349, ENST00000611646
RefSeq mRNA: 5 — MANE Select: NM_022781
NM_022781, NM_194328, NM_194329, NM_194330, NM_194332
CCDS: CCDS6603, CCDS6604
Canonical transcript exons
ENST00000259605 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000699921 | 36351115 | 36351199 |
| ENSE00000700013 | 36353170 | 36353331 |
| ENSE00000700080 | 36356303 | 36356473 |
| ENSE00000833096 | 36352742 | 36352848 |
| ENSE00001288183 | 36344832 | 36344953 |
| ENSE00001694763 | 36342325 | 36342424 |
| ENSE00001906081 | 36400097 | 36400269 |
| ENSE00003529472 | 36369719 | 36369932 |
| ENSE00003597181 | 36390467 | 36390616 |
| ENSE00003612670 | 36357775 | 36357942 |
| ENSE00003671576 | 36375934 | 36376127 |
| ENSE00003843153 | 36336400 | 36339814 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 99.85.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.9550 / max 315.9184, expressed in 1803 samples.
FANTOM5 promoters (13 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 100695 | 12.8710 | 1787 |
| 100691 | 2.3013 | 1157 |
| 100692 | 1.8095 | 864 |
| 100693 | 0.8037 | 439 |
| 100689 | 0.7151 | 249 |
| 100690 | 0.7018 | 418 |
| 100686 | 0.3717 | 182 |
| 100684 | 0.3467 | 165 |
| 100688 | 0.2883 | 99 |
| 100685 | 0.2765 | 135 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 99.85 | gold quality |
| secondary oocyte | CL:0000655 | 99.68 | gold quality |
| oocyte | CL:0000023 | 98.63 | gold quality |
| male germ cell | CL:0000015 | 97.99 | gold quality |
| left testis | UBERON:0004533 | 96.53 | gold quality |
| right testis | UBERON:0004534 | 96.42 | gold quality |
| cortical plate | UBERON:0005343 | 95.80 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.59 | gold quality |
| testis | UBERON:0000473 | 95.48 | gold quality |
| cauda epididymis | UBERON:0004360 | 94.68 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 94.63 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 94.59 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 94.51 | gold quality |
| adult organism | UBERON:0007023 | 94.44 | gold quality |
| renal glomerulus | UBERON:0000074 | 94.42 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 94.10 | gold quality |
| corpus epididymis | UBERON:0004359 | 94.03 | gold quality |
| parietal pleura | UBERON:0002400 | 93.44 | gold quality |
| endothelial cell | CL:0000115 | 93.34 | gold quality |
| embryo | UBERON:0000922 | 93.30 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 93.27 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 93.06 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 93.01 | gold quality |
| visceral pleura | UBERON:0002401 | 92.95 | gold quality |
| superficial temporal artery | UBERON:0001614 | 92.80 | gold quality |
| pleura | UBERON:0000977 | 92.72 | gold quality |
| caput epididymis | UBERON:0004358 | 92.67 | gold quality |
| seminal vesicle | UBERON:0000998 | 92.22 | gold quality |
| blood vessel layer | UBERON:0004797 | 92.16 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 91.89 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.99 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
357 targeting RNF38, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
Literature-anchored findings (GeneRIF, showing 10)
- Cloning and characterization of the RNF38 gene (PMID:12074600)
- These results suggest RNF38 is an E3 ubiquitin ligase that may play a role in regulating p53. (PMID:23973461)
- Data show that E3 ubiquitin-protein ligase RNF38 (RNF38) interacts with the nonreceptor tyrosine phosphatase SH2-containing protein tyrosine phosphatase 1 (SHP-1) and induces the polyubiquitination of SHP-1, which leads to destabilization of SHP-1. (PMID:30112836)
- identified RNF38 as a novel E3 ligase that modifies RUNX1 function without inducing its degradation (PMID:30309654)
- AHNAK interference restored the hepatocellular carcinoma (HCC) cell invasion and metastasis deprived by RNF38 downregulation. Clinically, elevated RNF38 and transforming growth factor beta receptor 1 (TGFBR1) expression was related to short overall survival (OS) and high cumulative recurrence rates in HCC patients. (PMID:30836988)
- Long non-coding RNA SNHG5 promotes human hepatocellular carcinoma progression by regulating miR-363-3p/RNF38 axis. (PMID:32329834)
- Inhibiting microRNA-301b suppresses cell growth and targets RNF38 in cervical carcinoma. (PMID:32643846)
- RNF38 inhibits osteosarcoma cell proliferation by binding to CRY1. (PMID:34460347)
- RNF38 suppress growth and metastasis via ubiquitination of ACTN4 in nasopharyngeal carcinoma. (PMID:35568845)
- Hsa_circ_0097009 regulates proliferation, apoptosis, migration and invasion of hepatocellular carcinoma cells via miR-568/RNF38 axis. (PMID:36598315)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rnf38 | ENSDARG00000062055 |
| mus_musculus | Rnf38 | ENSMUSG00000035696 |
| rattus_norvegicus | Rnf38 | ENSRNOG00000013956 |
Paralogs (3): RNF6 (ENSG00000127870), RLIM (ENSG00000131263), RNF44 (ENSG00000146083)
Protein
Protein identifiers
E3 ubiquitin-protein ligase RNF38 — Q9H0F5 (reviewed: Q9H0F5)
Alternative names: RING finger protein 38, RING-type E3 ubiquitin transferase RNF38
All UniProt accessions (1): Q9H0F5
UniProt curated annotations — full annotation on UniProt →
Function. Acts as an E3 ubiquitin-protein ligase able to ubiquitinate p53/TP53 which promotes its relocalization to discrete foci associated with PML nuclear bodies. Exhibits preference for UBE2D2 as a E2 enzyme.
Subcellular location. Nucleus.
Tissue specificity. Widely expressed with highest levels in testis.
Pathway. Protein modification; protein ubiquitination.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H0F5-1 | 1 | yes |
| Q9H0F5-2 | 2 | |
| Q9H0F5-3 | 3 | |
| Q9H0F5-4 | 4 | |
| Q9H0F5-5 | 5 |
RefSeq proteins (5): NP_073618, NP_919309, NP_919310, NP_919311, NP_919313 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001841 | Znf_RING | Domain |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
Pfam: PF13639
UniProt features (25 total): splice variant 5, strand 5, turn 3, sequence conflict 2, helix 2, short sequence motif 2, compositionally biased region 2, chain 1, zinc finger region 1, sequence variant 1, region of interest 1
Structure
Experimental structures (PDB)
6 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9Q88 | X-RAY DIFFRACTION | 1.2 |
| 4V3L | X-RAY DIFFRACTION | 1.53 |
| 4V3K | X-RAY DIFFRACTION | 2.04 |
| 7OJX | X-RAY DIFFRACTION | 2.4 |
| 9Q8Y | X-RAY DIFFRACTION | 2.63 |
| 1X4J | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H0F5-F1 | 52.69 | 0.14 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 300 (showing top):
MYAATNNNNNNNGGC_UNKNOWN, GGTGTGT_MIR329, TGCGCANK_UNKNOWN, CMYB_01, TATTATA_MIR374, AREB6_01, GGGTGGRR_PAX4_03, LINDGREN_BLADDER_CANCER_CLUSTER_2A_DN, CATTTCA_MIR203, MCAATNNNNNGCG_UNKNOWN, chr9p13, TGTGTGA_MIR377, ACATTCC_MIR1_MIR206, TGACATY_UNKNOWN, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION
GO Biological Process (2): male gonad development (GO:0008584), protein ubiquitination (GO:0016567)
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 (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), sperm flagellum (GO:0036126)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| gonad development | 1 |
| development of primary male sexual characteristics | 1 |
| protein modification by small protein conjugation | 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 membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| 9+2 motile cilium | 1 |
Protein interactions and networks
STRING
902 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RNF38 | GNE | Q9Y223 | 952 |
| RNF38 | UBE2D2 | P51669 | 899 |
| RNF38 | NANS | Q9NR45 | 575 |
| RNF38 | UAP1 | Q16222 | 569 |
| RNF38 | TMEM169 | Q96HH4 | 497 |
| RNF38 | UBB | P02248 | 496 |
| RNF38 | BIRC7 | Q96CA5 | 438 |
| RNF38 | SHB | Q15464 | 434 |
| RNF38 | TRIM31 | Q9BZY9 | 434 |
| RNF38 | BSN | Q9UPA5 | 433 |
| RNF38 | RBBP6 | Q7Z6E9 | 425 |
| RNF38 | RNF4 | P78317 | 422 |
| RNF38 | FAM174A | Q8TBP5 | 422 |
| RNF38 | OPCML | Q14982 | 403 |
| RNF38 | NREP | Q16612 | 400 |
IntAct
54 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RNF38 | RNF208 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYSRT1 | RNF38 | psi-mi:“MI:0915”(physical association) | 0.560 |
| OXER1 | RNF38 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LASP1 | RNF38 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP8-1 | RNF38 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP6-2 | RNF38 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KPRP | RNF38 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP11-1 | RNF38 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-8 | RNF38 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP21-2 | RNF38 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP7-1 | RNF38 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP19-5 | RNF38 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF38 | psi-mi:“MI:0915”(physical association) | 0.490 | |
| NEDD4 | RNF38 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| YAP1 | RNF38 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KPNA4 | RNF38 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RNF38 | bipA | psi-mi:“MI:0915”(physical association) | 0.370 |
| RNF38 | iglC2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| UBE2D1 | RNF38 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RNF38 | UBE2D2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| UBE2D3 | RNF38 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RNF38 | UBE2H | psi-mi:“MI:0915”(physical association) | 0.370 |
| RNF38 | UBE2D4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DZIP3 | RNF38 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RNF114 | RNF38 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RNF38 | DTX3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZDHHC17 | RNF38 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (125): RNF38 (Two-hybrid), RNF38 (Biochemical Activity), RNF38 (Reconstituted Complex), UBE2D2 (Reconstituted Complex), UBC (Biochemical Activity), RNF38 (Affinity Capture-RNA), RNF38 (Reconstituted Complex), RNF38 (Affinity Capture-Western), PTPN6 (Affinity Capture-Western), RNF38 (Affinity Capture-MS), AHNAK (Affinity Capture-MS), TRIM21 (Affinity Capture-MS), DCD (Affinity Capture-MS), SPIDR (Affinity Capture-MS), CD109 (Affinity Capture-MS)
ESM2 similar proteins: A2AFE9, A2X0Q6, A3A2Z8, A5PJK7, B1ATL7, C7IW64, O65685, O94602, P03413, P11821, P38128, P80074, Q01196, Q03347, Q08775, Q0V9R0, Q10108, Q13761, Q2HRB6, Q5R476, Q5UQP5, Q63046, Q66J97, Q6AWY2, Q6F2E2, Q6NRV8, Q6PF39, Q6ZNA4, Q7L0R7, Q84JP1, Q8CFA7, Q8LFU0, Q8VY64, Q90ZT7, Q93ZH2, Q945M9, Q99ML9, Q9D1Z2, Q9E6P2, Q9FGD6
Diamond homologs: A5WWA0, E9QAU8, O22197, O43567, O49500, O54965, O64763, O80927, P0CH02, P0CH30, P0DPR2, Q06003, Q07G42, Q08CG8, Q08D68, Q0V9R0, Q0VD51, Q0WPW5, Q3T0W3, Q3U2C5, Q3UHJ8, Q4KLR8, Q4V7B8, Q566M8, Q5DTZ6, Q5M974, Q5NCP0, Q5R476, Q5RCV8, Q5SSZ7, Q5XIL0, Q641J8, Q66HG0, Q66J97, Q67YI6, Q68DV7, Q69U49, Q6AVN2, Q6AXU4, Q6GPV5
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | RNF38 | ubiquitination |
| RNF38 | “down-regulates activity” | TP53 | ubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 27 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Keratinization | 6 | 18.6× | 2e-05 |
| Antigen processing: Ubiquitination & Proteasome degradation | 8 | 16.5× | 7e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein K48-linked ubiquitination | 5 | 44.4× | 3e-06 |
| protein polyubiquitination | 6 | 36.5× | 6e-07 |
| ubiquitin-dependent protein catabolic process | 7 | 27.4× | 4e-07 |
| protein ubiquitination | 6 | 13.1× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
82 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 58 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1953 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:36339810:TTTGC:T | acceptor_gain | 1.0000 |
| 9:36339811:TTGC:T | acceptor_gain | 1.0000 |
| 9:36339812:TGC:T | acceptor_gain | 1.0000 |
| 9:36339812:TGCC:T | acceptor_loss | 1.0000 |
| 9:36339813:GC:G | acceptor_gain | 1.0000 |
| 9:36339814:CC:C | acceptor_gain | 1.0000 |
| 9:36339815:C:CA | acceptor_loss | 1.0000 |
| 9:36339815:C:CC | acceptor_gain | 1.0000 |
| 9:36339816:T:G | acceptor_loss | 1.0000 |
| 9:36339818:C:CT | acceptor_gain | 1.0000 |
| 9:36344826:A:AC | donor_gain | 1.0000 |
| 9:36344826:ACTT:A | donor_loss | 1.0000 |
| 9:36344827:C:CC | donor_gain | 1.0000 |
| 9:36344828:TTACA:T | donor_loss | 1.0000 |
| 9:36344829:TACAA:T | donor_loss | 1.0000 |
| 9:36344830:A:AC | donor_gain | 1.0000 |
| 9:36344830:AC:A | donor_loss | 1.0000 |
| 9:36344831:C:CA | donor_gain | 1.0000 |
| 9:36344831:CA:C | donor_gain | 1.0000 |
| 9:36344831:CAA:C | donor_gain | 1.0000 |
| 9:36344831:CAAA:C | donor_gain | 1.0000 |
| 9:36344831:CAAAG:C | donor_gain | 1.0000 |
| 9:36344954:C:CC | acceptor_gain | 1.0000 |
| 9:36344954:CT:C | acceptor_loss | 1.0000 |
| 9:36344961:G:T | acceptor_gain | 1.0000 |
| 9:36351110:CTAA:C | donor_loss | 1.0000 |
| 9:36351111:TAA:T | donor_loss | 1.0000 |
| 9:36351112:AAC:A | donor_loss | 1.0000 |
| 9:36351114:C:CT | donor_loss | 1.0000 |
| 9:36352740:A:AC | donor_gain | 1.0000 |
AlphaMissense
3328 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:36339789:C:G | R504P | 1.000 |
| 9:36339791:G:C | C503W | 1.000 |
| 9:36339792:C:A | C503F | 1.000 |
| 9:36339792:C:G | C503S | 1.000 |
| 9:36339792:C:T | C503Y | 1.000 |
| 9:36339793:A:G | C503R | 1.000 |
| 9:36339793:A:T | C503S | 1.000 |
| 9:36339795:A:C | I502S | 1.000 |
| 9:36339795:A:T | I502N | 1.000 |
| 9:36339798:G:C | P501R | 1.000 |
| 9:36339798:G:T | P501Q | 1.000 |
| 9:36339799:G:A | P501S | 1.000 |
| 9:36339799:G:T | P501T | 1.000 |
| 9:36339800:G:C | C500W | 1.000 |
| 9:36339801:C:A | C500F | 1.000 |
| 9:36339801:C:G | C500S | 1.000 |
| 9:36339801:C:T | C500Y | 1.000 |
| 9:36339802:A:C | C500G | 1.000 |
| 9:36339802:A:G | C500R | 1.000 |
| 9:36339802:A:T | C500S | 1.000 |
| 9:36342329:A:G | L494P | 1.000 |
| 9:36342329:A:T | L494H | 1.000 |
| 9:36342331:C:A | W493C | 1.000 |
| 9:36342331:C:G | W493C | 1.000 |
| 9:36342332:C:G | W493S | 1.000 |
| 9:36342333:A:G | W493R | 1.000 |
| 9:36342333:A:T | W493R | 1.000 |
| 9:36342341:A:T | V490D | 1.000 |
| 9:36342343:A:C | C489W | 1.000 |
| 9:36342344:C:A | C489F | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000017056 (9:36419275 T>G), RS1000056828 (9:36484128 T>G), RS1000073931 (9:36460464 C>G), RS1000076679 (9:36471873 G>A), RS1000081663 (9:36481939 G>A), RS1000085255 (9:36466127 T>C), RS1000092040 (9:36415427 TTTTG>T), RS1000116341 (9:36357543 T>C), RS1000143052 (9:36415646 T>C), RS1000152024 (9:36389728 T>C), RS1000165998 (9:36367213 G>C,T), RS1000184878 (9:36484998 C>G), RS1000189934 (9:36406921 A>G), RS1000223180 (9:36373234 T>C), RS1000227469 (9:36454827 A>C,G)
Disease associations
OMIM: gene MIM:612488 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002815_5 | Bipolar disorder (inflammation and infection response interaction) | 6.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007050 | HSV1 seropositivity |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tobacco Smoke Pollution | decreases methylation, increases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| bisphenol A | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| erastin | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Doxorubicin | decreases expression | 1 |
| Doxycycline | increases expression, affects cotreatment | 1 |
| Endosulfan | increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Lead | affects splicing | 1 |
| Testosterone | increases expression | 1 |
| Thiram | increases expression | 1 |
| Urethane | increases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Isotretinoin | increases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
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.