UBE2U
gene geneOn this page
Also known as MGC35130
Summary
UBE2U (ubiquitin conjugating enzyme E2 U, HGNC:28559) is a protein-coding gene on chromosome 1p31.3, encoding Ubiquitin-conjugating enzyme E2 U (Q5VVX9). Catalyzes the covalent attachment of ubiquitin to other proteins.
Predicted to enable ubiquitin conjugating enzyme activity. Predicted to be involved in DNA repair; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein polyubiquitination. Predicted to be part of HULC complex.
Source: NCBI Gene 148581 — RefSeq curated summary.
At a glance
- Gene–disease (curated): syndromic disease (Limited, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 30 total
- MANE Select transcript:
NM_001366232
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28559 |
| Approved symbol | UBE2U |
| Name | ubiquitin conjugating enzyme E2 U |
| Location | 1p31.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC35130 |
| Ensembl gene | ENSG00000177414 |
| Ensembl biotype | protein_coding |
| Entrez | 148581 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000371076, ENST00000371077, ENST00000464349, ENST00000608020, ENST00000608956, ENST00000611228
RefSeq mRNA: 5 — MANE Select: NM_001366232
NM_001366232, NM_001366233, NM_001366234, NM_001366235, NM_152489
CCDS: CCDS627, CCDS90966
Canonical transcript exons
ENST00000371077 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001277656 | 64214815 | 64214932 |
| ENSE00001277665 | 64210742 | 64210839 |
| ENSE00001277675 | 64206764 | 64206856 |
| ENSE00001277685 | 64205639 | 64205720 |
| ENSE00001454295 | 64267024 | 64267368 |
| ENSE00003622343 | 64232561 | 64232649 |
| ENSE00003624107 | 64220859 | 64220907 |
| ENSE00003640139 | 64241652 | 64241733 |
| ENSE00003787158 | 64260603 | 64260694 |
| ENSE00003921089 | 64203623 | 64204116 |
Expression profiles
Bgee: expression breadth ubiquitous, 105 present calls, max score 93.30.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0424 / max 19.8477, expressed in 7 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 3210 | 0.0243 | 4 |
| 3211 | 0.0146 | 3 |
| 201533 | 0.0035 | 2 |
Top tissues by expression
223 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 93.30 | gold quality |
| left testis | UBERON:0004533 | 92.57 | gold quality |
| right testis | UBERON:0004534 | 91.98 | gold quality |
| testis | UBERON:0000473 | 89.55 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 89.45 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.38 | gold quality |
| adult organism | UBERON:0007023 | 62.64 | gold quality |
| islet of Langerhans | UBERON:0000006 | 60.89 | gold quality |
| buccal mucosa cell | CL:0002336 | 59.59 | gold quality |
| body of pancreas | UBERON:0001150 | 59.04 | gold quality |
| pancreas | UBERON:0001264 | 57.93 | gold quality |
| calcaneal tendon | UBERON:0003701 | 57.45 | gold quality |
| body of stomach | UBERON:0001161 | 55.50 | gold quality |
| apex of heart | UBERON:0002098 | 55.41 | gold quality |
| fundus of stomach | UBERON:0001160 | 52.26 | gold quality |
| stomach | UBERON:0000945 | 51.27 | gold quality |
| tendon | UBERON:0000043 | 50.88 | gold quality |
| lower lobe of lung | UBERON:0008949 | 50.30 | silver quality |
| cerebellar vermis | UBERON:0004720 | 48.93 | gold quality |
| right uterine tube | UBERON:0001302 | 45.11 | silver quality |
| right lung | UBERON:0002167 | 43.40 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 43.37 | gold quality |
| heart left ventricle | UBERON:0002084 | 43.20 | gold quality |
| cardiac ventricle | UBERON:0002082 | 43.09 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 42.77 | silver quality |
| quadriceps femoris | UBERON:0001377 | 42.66 | gold quality |
| secondary oocyte | CL:0000655 | 42.57 | gold quality |
| thymus | UBERON:0002370 | 42.46 | gold quality |
| vastus lateralis | UBERON:0001379 | 41.41 | gold quality |
| superficial temporal artery | UBERON:0001614 | 41.33 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 2.76 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
19 targeting UBE2U, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-105-5P | 99.54 | 69.24 | 2060 |
| HSA-MIR-7853-5P | 99.54 | 69.30 | 2055 |
| HSA-MIR-136-5P | 99.50 | 67.26 | 1153 |
| HSA-MIR-6083 | 99.47 | 68.73 | 2393 |
| HSA-MIR-410-3P | 99.27 | 69.98 | 2457 |
| HSA-MIR-2115-5P | 98.66 | 68.07 | 1191 |
| HSA-MIR-3928-5P | 98.50 | 67.48 | 980 |
| HSA-MIR-6806-3P | 98.50 | 67.31 | 980 |
| HSA-MIR-5000-5P | 97.40 | 66.11 | 1055 |
| HSA-MIR-759 | 96.16 | 66.77 | 873 |
| HSA-MIR-4522 | 95.76 | 66.23 | 742 |
Literature-anchored findings (GeneRIF, showing 2)
- Further mining of the UBE2U interactome uncovered its cognate E3 RNF17 as a novel factor that, via the radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties (RIDDLE) syndrome protein RNF168, enforces DNA damage responses. (PMID:27903633)
- Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation. (PMID:33776059)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Ube2u | ENSMUSG00000069733 |
| rattus_norvegicus | Ube2u | ENSRNOG00000023895 |
Paralogs (24): UBE2T (ENSG00000077152), UBE2A (ENSG00000077721), UBE2K (ENSG00000078140), CDC34 (ENSG00000099804), UBE2I (ENSG00000103275), UBE2W (ENSG00000104343), UBE2R2 (ENSG00000107341), UBE2S (ENSG00000108106), UBE2B (ENSG00000119048), UBE2G1 (ENSG00000132388), UBE2Z (ENSG00000159202), UBE2J2 (ENSG00000160087), AKTIP (ENSG00000166971), UBE2V2 (ENSG00000169139), UBE2C (ENSG00000175063), UBE2O (ENSG00000175931), UBE2N (ENSG00000177889), UBE2F (ENSG00000184182), UBE2G2 (ENSG00000184787), UBE2H (ENSG00000186591), UBE2J1 (ENSG00000198833), PEDS1 (ENSG00000240849), UBE2V1 (ENSG00000244687), UBE2NL (ENSG00000276380)
Protein
Protein identifiers
Ubiquitin-conjugating enzyme E2 U — Q5VVX9 (reviewed: Q5VVX9)
Alternative names: E2 ubiquitin-conjugating enzyme U, Ubiquitin carrier protein U, Ubiquitin-protein ligase U
All UniProt accessions (5): Q5VVX9, A0A0A0MRP4, A0A140VJY9, V9GYA6, V9GZ31
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the covalent attachment of ubiquitin to other proteins.
Post-translational modifications. Autoubiquitinated in vitro in the presence of UBR5.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the ubiquitin-conjugating enzyme family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5VVX9-1 | 1 | yes |
| Q5VVX9-2 | 2 |
RefSeq proteins (5): NP_001353161, NP_001353162, NP_001353163, NP_001353164, NP_689702 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000608 | UBC | Domain |
| IPR016135 | UBQ-conjugating_enzyme/RWD | Homologous_superfamily |
| IPR023313 | UBQ-conjugating_AS | Active_site |
| IPR050113 | Ub_conjugating_enzyme-E2-like | Family |
Pfam: PF00179
Enzyme classification (BRENDA):
- EC 2.3.2.23 — E2 ubiquitin-conjugating enzyme (BRENDA: 20 organisms, 93 substrates, 28 inhibitors, 12 Km, 8 kcat entries)
Substrate kinetics (BRENDA)
4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| [UBIQUITIN-CARRIER-PROTEIN UBC2B]-L-CYSTEINE | 0.0001 | 5 |
| [UBE2W]-S-UBIQUITINYL-L-CYSTEINE | 0.2203–0.3014 | 2 |
| S-UBIQUITINYL-[E1 UBIQUITIN-ACTIVATING ENZYME]-L | 1 | 1 |
| [UBIQUITIN CARRIER PROTEIN UBC4]-L-CYSTEINE | 0.0019 | 1 |
UniProt features (20 total): helix 6, strand 4, turn 2, compositionally biased region 2, chain 1, domain 1, region of interest 1, active site 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1YRV | X-RAY DIFFRACTION | 2.18 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5VVX9-F1 | 70.85 | 0.43 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 89 (glycyl thioester intermediate)
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
MSigDB gene sets: 70 (showing top):
REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_DNA_DAMAGE_RESPONSE, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, GATA1_02, KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_PROTEIN_CATABOLIC_PROCESS, TGGAAA_NFAT_Q4_01, GOCC_TRANSFERASE_COMPLEX, GOBP_PROTEOLYSIS
GO Biological Process (5): protein polyubiquitination (GO:0000209), DNA repair (GO:0006281), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), protein ubiquitination (GO:0016567), protein modification by small protein conjugation (GO:0032446)
GO Molecular Function (6): ATP binding (GO:0005524), ubiquitin conjugating enzyme activity (GO:0061631), nucleotide binding (GO:0000166), protein binding (GO:0005515), transferase activity (GO:0016740), ubiquitin-like protein transferase activity (GO:0019787)
GO Cellular Component (1): HULC complex (GO:0033503)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Class I MHC mediated antigen processing & presentation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein ubiquitination | 1 |
| DNA metabolic process | 1 |
| DNA damage response | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| protein modification by small protein conjugation | 1 |
| protein modification by small protein conjugation or removal | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein conjugating enzyme activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| aminoacyltransferase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| ubiquitin ligase complex | 1 |
| chromatin | 1 |
| ubiquitin conjugating enzyme complex | 1 |
Protein interactions and networks
STRING
2010 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UBE2U | UBE2Z | Q9H832 | 545 |
| UBE2U | CBLC | Q9ULV8 | 543 |
| UBE2U | RNF17 | Q9BXT8 | 524 |
| UBE2U | CBLB | Q13191 | 508 |
| UBE2U | UBOX5 | O94941 | 492 |
| UBE2U | UBE2J1 | Q9Y385 | 485 |
| UBE2U | PGM1 | P36871 | 483 |
| UBE2U | UBE2J2 | Q8N2K1 | 476 |
| UBE2U | UBE2D4 | Q9Y2X8 | 457 |
| UBE2U | PCGF2 | P35227 | 443 |
| UBE2U | A0A087WY85 | A0A087WY85 | 433 |
| UBE2U | UBE2O | Q9C0C9 | 420 |
| UBE2U | UBE2Q1 | Q7Z7E8 | 419 |
| UBE2U | G3V2F7 | G3V2F7 | 417 |
| UBE2U | STUM | Q69YW2 | 415 |
IntAct
77 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GOLGA2 | UBE2U | psi-mi:“MI:0915”(physical association) | 0.670 |
| TRIM32 | UBE2U | psi-mi:“MI:0915”(physical association) | 0.670 |
| UBE2U | TRIM32 | psi-mi:“MI:0915”(physical association) | 0.670 |
| UBE2U | GOLGA2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| UBE2U | RNF144B | psi-mi:“MI:0915”(physical association) | 0.550 |
| UBE2U | ANAPC11 | psi-mi:“MI:0915”(physical association) | 0.370 |
| BARD1 | UBE2U | psi-mi:“MI:0915”(physical association) | 0.370 |
| BFAR | UBE2U | psi-mi:“MI:0915”(physical association) | 0.370 |
| MUL1 | UBE2U | psi-mi:“MI:0915”(physical association) | 0.370 |
| UBE2U | CADPS2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CGRRF1 | UBE2U | psi-mi:“MI:0915”(physical association) | 0.370 |
| DTX1 | UBE2U | psi-mi:“MI:0915”(physical association) | 0.370 |
| UBE2U | RNFT1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RNF181 | UBE2U | psi-mi:“MI:0915”(physical association) | 0.370 |
| UBE2U | MDM2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MIB1 | UBE2U | psi-mi:“MI:0915”(physical association) | 0.370 |
| UBE2U | MIB2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| UBE2U | psi-mi:“MI:0915”(physical association) | 0.370 | |
| KAT6A | UBE2U | psi-mi:“MI:0915”(physical association) | 0.370 |
| RNF41 | UBE2U | psi-mi:“MI:0915”(physical association) | 0.370 |
| UBE2U | PCGF1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PCGF2 | UBE2U | psi-mi:“MI:0915”(physical association) | 0.370 |
| PJA1 | UBE2U | psi-mi:“MI:0915”(physical association) | 0.370 |
| PML | UBE2U | psi-mi:“MI:0915”(physical association) | 0.370 |
| RNF11 | UBE2U | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (145): UBE2U (Two-hybrid), UBE2U (Two-hybrid), VPS28 (Affinity Capture-MS), GOLGA2 (Two-hybrid), MVB12A (Affinity Capture-MS), VPS28 (Affinity Capture-MS), UBE2U (Biochemical Activity), UBE2U (Two-hybrid), TSG101 (Affinity Capture-MS), MVB12A (Affinity Capture-MS), VPS37C (Affinity Capture-MS), VPS28 (Affinity Capture-MS), C3 (Affinity Capture-MS), SERPING1 (Affinity Capture-MS), C1QB (Affinity Capture-MS)
ESM2 similar proteins: A1ZBR5, A6QP16, A7RRG3, B0X6E8, B1H2Q2, B3MEZ6, B3MGT3, B3N6U7, B3NK72, B4GD81, B4H581, B4HPU1, B4HT57, B4J613, B4JWF5, B4KMF8, B4KS18, B4LNV5, B4LPP8, B4MQY1, B4MRW2, B4NWM2, B4PAP8, B4QEJ9, B4QHS6, C4R826, F4HPP7, I2HAA0, O23463, O42646, P29340, P49428, Q17PP1, Q28XA5, Q28YD9, Q2TA03, Q5U595, Q5VVX9, Q6P073, Q74Z34
Diamond homologs: A5PKP9, D3ZDK2, O00102, O00103, O00762, O74196, O74201, P06104, P0CS16, P0CS17, P15731, P15732, P23566, P25153, P25865, P25866, P25867, P34477, P35129, P35130, P35131, P35132, P35133, P35134, P35135, P42745, P42746, P42747, P43102, P46595, P49459, P50623, P51668, P52478, P52492, P52493, P56616, P61077, P61078, P61079
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| “Ub:E1 (UBA1 substrate)” | “up-regulates activity” | UBE2U | ubiquitination |
| “Ub:E1 (UBA6 substrate)” | “up-regulates activity” | UBE2U | ubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 65 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 |
|---|---|---|---|
| Interferon gamma signaling | 9 | 25.1× | 1e-08 |
| Antigen processing: Ubiquitination & Proteasome degradation | 13 | 10.8× | 1e-08 |
| Class I MHC mediated antigen processing & presentation | 6 | 9.3× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| suppression of viral release by host | 7 | 106.8× | 2e-11 |
| protein autoubiquitination | 9 | 32.4× | 6e-10 |
| protein sumoylation | 6 | 29.9× | 2e-06 |
| protein K63-linked ubiquitination | 7 | 28.8× | 2e-07 |
| protein polyubiquitination | 13 | 23.1× | 1e-12 |
| ubiquitin-dependent protein catabolic process | 16 | 18.3× | 5e-14 |
| protein K48-linked ubiquitination | 7 | 18.1× | 4e-06 |
| protein ubiquitination | 25 | 15.9× | 2e-21 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
30 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 25 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1550 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:64205636:AAG:A | acceptor_gain | 1.0000 |
| 1:64205719:GG:G | donor_gain | 1.0000 |
| 1:64205720:GG:G | donor_gain | 1.0000 |
| 1:64206759:TATA:T | acceptor_loss | 1.0000 |
| 1:64206761:TA:T | acceptor_loss | 1.0000 |
| 1:64206762:A:AC | acceptor_loss | 1.0000 |
| 1:64206762:A:AG | acceptor_gain | 1.0000 |
| 1:64206763:G:GG | acceptor_gain | 1.0000 |
| 1:64206763:GGTTT:G | acceptor_gain | 1.0000 |
| 1:64206855:TGG:T | donor_loss | 1.0000 |
| 1:64206856:GGTAA:G | donor_loss | 1.0000 |
| 1:64206857:G:GA | donor_loss | 1.0000 |
| 1:64206857:G:GG | donor_gain | 1.0000 |
| 1:64206858:T:G | donor_loss | 1.0000 |
| 1:64210741:GTA:G | acceptor_gain | 1.0000 |
| 1:64214933:G:GG | donor_gain | 1.0000 |
| 1:64220857:A:AG | acceptor_gain | 1.0000 |
| 1:64220858:G:GG | acceptor_gain | 1.0000 |
| 1:64204114:AAG:A | donor_gain | 0.9900 |
| 1:64204114:AAGGT:A | donor_loss | 0.9900 |
| 1:64204115:AGG:A | donor_loss | 0.9900 |
| 1:64204116:GGTA:G | donor_loss | 0.9900 |
| 1:64204117:G:GG | donor_gain | 0.9900 |
| 1:64204117:GT:G | donor_loss | 0.9900 |
| 1:64205630:A:AG | acceptor_gain | 0.9900 |
| 1:64205637:AG:A | acceptor_gain | 0.9900 |
| 1:64205638:GG:G | acceptor_gain | 0.9900 |
| 1:64205716:GCAGG:G | donor_gain | 0.9900 |
| 1:64206761:TAGG:T | acceptor_gain | 0.9900 |
| 1:64210740:A:AG | acceptor_gain | 0.9900 |
AlphaMissense
2108 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:64205678:T:A | W36R | 0.991 |
| 1:64205678:T:C | W36R | 0.991 |
| 1:64206829:T:C | F72L | 0.988 |
| 1:64206831:T:A | F72L | 0.988 |
| 1:64206831:T:G | F72L | 0.988 |
| 1:64210795:T:A | W99R | 0.984 |
| 1:64210795:T:C | W99R | 0.984 |
| 1:64206844:T:C | F77L | 0.982 |
| 1:64206846:T:A | F77L | 0.982 |
| 1:64206846:T:G | F77L | 0.982 |
| 1:64206830:T:C | F72S | 0.981 |
| 1:64210797:G:C | W99C | 0.978 |
| 1:64210797:G:T | W99C | 0.978 |
| 1:64206790:T:C | F59L | 0.976 |
| 1:64206792:T:A | F59L | 0.976 |
| 1:64206792:T:G | F59L | 0.976 |
| 1:64206849:T:A | H78Q | 0.969 |
| 1:64206849:T:G | H78Q | 0.969 |
| 1:64205680:G:C | W36C | 0.967 |
| 1:64205680:G:T | W36C | 0.967 |
| 1:64214853:T:A | N126K | 0.967 |
| 1:64214853:T:G | N126K | 0.967 |
| 1:64206848:A:G | H78R | 0.965 |
| 1:64210757:G:A | G86D | 0.964 |
| 1:64206791:T:C | F59S | 0.961 |
| 1:64206855:T:A | N80K | 0.960 |
| 1:64206855:T:G | N80K | 0.960 |
| 1:64210796:G:C | W99S | 0.960 |
| 1:64206785:T:A | I57K | 0.959 |
| 1:64210742:T:A | V81E | 0.955 |
dbSNP variants (sampled 300 via entrez): RS1000067996 (1:64264239 A>C), RS1000082382 (1:64211925 T>C,G), RS1000242931 (1:64220968 C>G), RS1000253592 (1:64239301 T>C), RS1000338121 (1:64206624 C>A,T), RS1000339862 (1:64247229 C>T), RS1000427506 (1:64252705 A>G), RS1000428334 (1:64219319 T>C,G), RS1000517812 (1:64212284 T>C,G), RS1000522709 (1:64264206 C>A), RS1000526913 (1:64219727 C>G), RS1000566808 (1:64252093 G>A), RS1000579456 (1:64205917 G>T), RS1000729283 (1:64205334 A>C), RS1000766367 (1:64259738 C>G,T)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| syndromic disease | Limited | Autosomal dominant |
Mondo (1): syndromic disease (MONDO:0002254)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009088_1 | Severe bacterial meningitis | 2.000000e-08 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D013577 | Syndrome | C23.550.288.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
6 total (human), top 6 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| CGP 52608 | affects binding, increases reaction | 1 |
| Acetaminophen | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Endosulfan | decreases reaction, increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tetrachlorodibenzodioxin | decreases reaction, increases expression | 1 |
Clinical trials (associated diseases)
25 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00027456 | PHASE2 | COMPLETED | Leptin to Treat Severe Insulin Resistance - Pilot Study |
| NCT00213447 | Not specified | COMPLETED | T Cell Response in Hypersensitivity Syndrome |
| NCT02240888 | Not specified | COMPLETED | Vaccination in Inflammatory Rheumatic Disease (VACCIMIL). The Impact of Antirheumatic Treatment on Antibody Response |
| NCT02526082 | Not specified | ACTIVE_NOT_RECRUITING | Long-term Follow-up of the Helsinki Businessmen Study |
| NCT02637518 | Not specified | UNKNOWN | Comprehensive Validation of Frailty Assessment Tools in Older Adults in Different Clinical and Social Settings |
| NCT02971072 | Not specified | COMPLETED | Neurophysiology of Weakness and Exercise in Rotator Cuff Tendinopathy |
| NCT02974569 | Not specified | COMPLETED | Improving Symptom Self-management in Adolescents & Young Adults With Cancer |
| NCT03265561 | Not specified | COMPLETED | Spinal Infection Management With Structural Allograft |
| NCT04190342 | Not specified | COMPLETED | Effects of a Traditional Chinese Exercise Program on Symptom Cluster in Breast Cancer Patients |
| NCT04874584 | Not specified | COMPLETED | Culturally Tailored Nurse Coaching Study for Cancer Symptom Management |
| NCT04909489 | Not specified | UNKNOWN | PDR and SKYD of Dyslipidemia’s Characteristics From the Oxidative Stress Enhancement Caused by Inhibition of Serine Metabolic Pathway |
| NCT05218122 | Not specified | UNKNOWN | Characteristics of LKDS and PBSS of KOA Based on the Enhancement of Inflammatory Response by TGF-β/Smad Pathway Inhibited |
| NCT05266118 | Not specified | COMPLETED | Patient Reported Symptoms the First Week After Intensive Care Unit Discharge and up to Hospital Discharge |
| NCT05321966 | Not specified | COMPLETED | The Effect of Video Training on Symptom Burden Patients Undergoing Hemodialysis Treatment |
| NCT05818748 | Not specified | UNKNOWN | Effect Of Virtual Reality Distraction on Symptom Control and Anxiety in Children With Leukemia |
| NCT05837988 | Not specified | UNKNOWN | Construction of Symptom Network in Maintenance Hemodialysis Patients |
| NCT06143436 | Not specified | UNKNOWN | TCM Constitution, Pattern Types, and Disease Factors in Primary Lung Cancer. |
| NCT06222008 | Not specified | UNKNOWN | Study on Symptom Clusters During Chemotherapy in Ovarian Cancer Patients With Different Chinese Medicine Constitution |
| NCT06412107 | Not specified | COMPLETED | Somatic Acupressure for Symptom Cluster Management in Breast Cancer Survivors |
| NCT06847360 | Not specified | RECRUITING | Home-based Transcutaneous Auricular Vagus Nerve Stimulation (taVNS) for IBS Pain |
| NCT07281300 | Not specified | RECRUITING | Mindfulness-Oriented Respiratory Distress Symptom Intervention for Lung Cancer |
| NCT07315672 | Not specified | RECRUITING | Acupressure for Cough in Lung Cancer Survivors |
| NCT07479654 | Not specified | NOT_YET_RECRUITING | AI-Enabled Frailty Risk Prediction in Adult Congenital Heart Disease |
| NCT07495358 | Not specified | NOT_YET_RECRUITING | Development and Usability Evaluation of a Knowledge Graph-Based Symptom Management System for Patients With Breast Cancer Undergoing Chemotherapy |
| NCT07576114 | Not specified | RECRUITING | Comparison of Gluteal Muscle Activation and Core Strengthening in Dead Butt Syndrome Syndrome |
Related Atlas pages
- Associated diseases: syndromic disease
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): bacterial meningitis, syndromic disease