UBE2G1
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Also known as UBC7
Summary
UBE2G1 (ubiquitin conjugating enzyme E2 G1, HGNC:12482) is a protein-coding gene on chromosome 17p13.2, encoding Ubiquitin-conjugating enzyme E2 G1 (P62253). Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins.
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family and catalyzes the covalent attachment of ubiquitin to other proteins. The protein may be involved in degradation of muscle-specific proteins.
Source: NCBI Gene 7326 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 11 total
- MANE Select transcript:
NM_003342
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12482 |
| Approved symbol | UBE2G1 |
| Name | ubiquitin conjugating enzyme E2 G1 |
| Location | 17p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | UBC7 |
| Ensembl gene | ENSG00000132388 |
| Ensembl biotype | protein_coding |
| OMIM | 601569 |
| Entrez | 7326 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 10 protein_coding, 2 nonsense_mediated_decay
ENST00000396981, ENST00000571953, ENST00000571980, ENST00000572484, ENST00000574059, ENST00000574633, ENST00000877982, ENST00000877983, ENST00000877984, ENST00000877985, ENST00000923588, ENST00000957659
RefSeq mRNA: 1 — MANE Select: NM_003342
NM_003342
CCDS: CCDS32532
Canonical transcript exons
ENST00000396981 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001254536 | 4269259 | 4272516 |
| ENSE00002657238 | 4366271 | 4366675 |
| ENSE00003469502 | 4282798 | 4282921 |
| ENSE00003517157 | 4307021 | 4307123 |
| ENSE00003652848 | 4289230 | 4289408 |
| ENSE00003659468 | 4296717 | 4296814 |
Expression profiles
Bgee: expression breadth ubiquitous, 294 present calls, max score 99.60.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 47.4622 / max 267.7466, expressed in 1825 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 163908 | 23.4252 | 1819 |
| 163912 | 21.0959 | 1810 |
| 163910 | 1.6865 | 1141 |
| 163909 | 0.6815 | 423 |
| 163911 | 0.4619 | 210 |
| 163907 | 0.0908 | 31 |
| 163906 | 0.0204 | 4 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 99.60 | gold quality |
| secondary oocyte | CL:0000655 | 99.09 | gold quality |
| biceps brachii | UBERON:0001507 | 98.72 | gold quality |
| vastus lateralis | UBERON:0001379 | 98.71 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 98.69 | gold quality |
| quadriceps femoris | UBERON:0001377 | 98.58 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 98.40 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 98.37 | gold quality |
| oocyte | CL:0000023 | 98.07 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 98.04 | gold quality |
| gluteal muscle | UBERON:0002000 | 97.99 | gold quality |
| deltoid | UBERON:0001476 | 97.98 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 97.95 | gold quality |
| male germ cell | CL:0000015 | 97.89 | gold quality |
| muscle organ | UBERON:0001630 | 97.64 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.61 | gold quality |
| tibialis anterior | UBERON:0001385 | 97.51 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.33 | gold quality |
| body of tongue | UBERON:0011876 | 97.27 | gold quality |
| muscle of leg | UBERON:0001383 | 97.25 | gold quality |
| heart right ventricle | UBERON:0002080 | 97.03 | gold quality |
| triceps brachii | UBERON:0001509 | 96.91 | gold quality |
| diaphragm | UBERON:0001103 | 96.83 | gold quality |
| muscle tissue | UBERON:0002385 | 96.81 | gold quality |
| tongue | UBERON:0001723 | 96.40 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 96.36 | gold quality |
| oral cavity | UBERON:0000167 | 96.35 | gold quality |
| squamous epithelium | UBERON:0006914 | 96.32 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 96.31 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 95.70 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-3929 | yes | 1088.38 |
| E-MTAB-7606 | no | 219.30 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): STAT3
miRNA regulators (miRDB)
241 targeting UBE2G1, 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-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
Literature-anchored findings (GeneRIF, showing 5)
- In endoplasmic reticulum, involved in the degradation of type 2 iodothyronine selenodeiodinase (PMID:12933904)
- study reports that UBCH8 and UBE2G1 and UBE2G2 cooperate with CRL4Cdt2 in promoting the polyubiquitylation and subsequent degradation of p21 and Cdt1, respectively (PMID:21628527)
- ubiquitin binding by the acidic loops of Ube2g1 and Ube2r1 enzymes distinguishes their Lys-48-ubiquitylation activities (PMID:25471371)
- the ubiquitin-conjugating enzymes UBE2G1 and UBE2D3 cooperatively promote the K48-linked polyubiquitination of CRL4(CRBN) neomorphic substrates (PMID:30234487)
- UBE2R2 alone had negligible ubiquitylation activity at physiological concentrations and the ablation of UBE2R1/2 had no effect on the stability of SCF substrates in cells. A genome-wide CRISPR screen revealed that an additional E2 enzyme, UBE2G1, buffers against the loss of UBE2R1/2. (PMID:31868589)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ube2g1a | ENSDARG00000015292 |
| mus_musculus | Ube2g1 | ENSMUSG00000020794 |
| rattus_norvegicus | Ube2g1 | ENSRNOG00000010041 |
| rattus_norvegicus | Ube2g1l1 | ENSRNOG00000066375 |
| drosophila_melanogaster | CG40045 | FBGN0058045 |
| drosophila_melanogaster | Ubc87F | FBGN0267383 |
| caenorhabditis_elegans | WBGENE00006704 |
Paralogs (24): UBE2T (ENSG00000077152), UBE2A (ENSG00000077721), UBE2K (ENSG00000078140), CDC34 (ENSG00000099804), UBE2I (ENSG00000103275), UBE2W (ENSG00000104343), UBE2R2 (ENSG00000107341), UBE2S (ENSG00000108106), UBE2B (ENSG00000119048), UBE2Z (ENSG00000159202), UBE2J2 (ENSG00000160087), AKTIP (ENSG00000166971), UBE2V2 (ENSG00000169139), UBE2C (ENSG00000175063), UBE2O (ENSG00000175931), UBE2U (ENSG00000177414), UBE2N (ENSG00000177889), UBE2F (ENSG00000184182), UBE2G2 (ENSG00000184787), UBE2H (ENSG00000186591), UBE2J1 (ENSG00000198833), PEDS1 (ENSG00000240849), UBE2V1 (ENSG00000244687), UBE2NL (ENSG00000276380)
Protein
Protein identifiers
Ubiquitin-conjugating enzyme E2 G1 — P62253 (reviewed: P62253)
Alternative names: E2 ubiquitin-conjugating enzyme G1, E217K, UBC7, Ubiquitin carrier protein G1, Ubiquitin-protein ligase G1
All UniProt accessions (5): P62253, I3L0Q0, I3L2H7, I3L2Q4, K7EPR7
UniProt curated annotations — full annotation on UniProt →
Function. Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes ‘Lys-48’-, as well as ‘Lys-63’-linked polyubiquitination. May be involved in degradation of muscle-specific proteins. Mediates polyubiquitination of CYP3A4.
Tissue specificity. Widely expressed, mainly in skeletal muscle.
Post-translational modifications. Autoubiquitinated in vitro.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the ubiquitin-conjugating enzyme family.
RefSeq proteins (1): NP_003333* (*=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)
- EC 2.3.2.24 — (E3-independent) E2 ubiquitin-conjugating enzyme (BRENDA: 5 organisms, 56 substrates, 7 inhibitors, 6 Km, 6 kcat entries)
Substrate kinetics (BRENDA)
8 substrates with measured Km, best-characterized 8. 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 |
| [HISTONE H2A]-L-LYSINE | 0.0008–0.0028 | 2 |
| [HISTONE H2B]-L-LYSINE | 0.0015–0.012 | 2 |
| S-UBIQUITINYL-[E1 UBIQUITIN-ACTIVATING ENZYME]-L | 1 | 1 |
| [UBIQUITIN CARRIER PROTEIN UBC4]-L-CYSTEINE | 0.0019 | 1 |
| [CYTOCHROME C]-L-LYSINE | 0.125 | 1 |
| [HISTONE H3]-L-LYSINE | 0.0013 | 1 |
UniProt features (20 total): strand 5, helix 5, turn 3, chain 2, modified residue 2, initiator methionine 1, domain 1, active site 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2AWF | X-RAY DIFFRACTION | 2.1 |
| 6D68 | X-RAY DIFFRACTION | 2.36 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P62253-F1 | 94.20 | 0.87 |
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): 90 (glycyl thioester intermediate)
Post-translational modifications (2): 1, 2
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-8866652 | Synthesis of active ubiquitin: roles of E1 and E2 enzymes |
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
MSigDB gene sets: 229 (showing top):
BORCZUK_MALIGNANT_MESOTHELIOMA_UP, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, BROWNE_HCMV_INFECTION_8HR_UP, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, WONG_PROTEASOME_GENE_MODULE, AATGGAG_MIR136, PUJANA_CHEK2_PCC_NETWORK, GTGCCTT_MIR506, MODULE_120, FISCHER_G2_M_CELL_CYCLE, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, GENTILE_UV_HIGH_DOSE_DN
GO Biological Process (7): protein polyubiquitination (GO:0000209), ubiquitin-dependent protein catabolic process (GO:0006511), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), protein K63-linked ubiquitination (GO:0070534), protein K48-linked ubiquitination (GO:0070936), protein ubiquitination (GO:0016567), protein modification by small protein conjugation (GO:0032446)
GO Molecular Function (8): ubiquitin-protein transferase activity (GO:0004842), ATP binding (GO:0005524), ubiquitin protein ligase binding (GO:0031625), 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 (2): cytosol (GO:0005829), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Protein ubiquitination | 1 |
| Class I MHC mediated antigen processing & presentation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein ubiquitination | 2 |
| protein polyubiquitination | 2 |
| modification-dependent protein catabolic process | 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 |
| ubiquitin-like protein transferase activity | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| ubiquitin-like protein ligase 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 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
2984 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UBE2G1 | SGK3 | Q96BR1 | 770 |
| UBE2G1 | ASIC1 | P78348 | 743 |
| UBE2G1 | SYVN1 | Q86TM6 | 665 |
| UBE2G1 | AMFR | P26442 | 637 |
| UBE2G1 | UBE2J2 | Q8N2K1 | 616 |
| UBE2G1 | UBE2V2 | Q15819 | 614 |
| UBE2G1 | CRBN | Q96SW2 | 560 |
| UBE2G1 | UBA1 | P22314 | 546 |
| UBE2G1 | CUL2 | Q13617 | 543 |
| UBE2G1 | UBE4B | O95155 | 524 |
| UBE2G1 | GINM1 | Q9NU53 | 504 |
| UBE2G1 | SGK1 | O00141 | 496 |
| UBE2G1 | UBE4A | Q14139 | 493 |
| UBE2G1 | UBE2Q1 | Q7Z7E8 | 487 |
| UBE2G1 | FBXO9 | Q9UK97 | 479 |
IntAct
22 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UBE2G1 | CCK | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBE2G1 | GNB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LAMP2 | UBE2G1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBE2G1 | SH3GLB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRPF40A | UBE2G1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CUL1 | Il1rl1 | psi-mi:“MI:0220”(ubiquitination reaction) | 0.440 |
| UBE2G1 | RBCK1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Tmed10 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| UBA52 | VCP | psi-mi:“MI:0914”(association) | 0.350 |
| IL36G | GOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| RNF144A | COL1A1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (69): UBE2G1 (Reconstituted Complex), UBE2G1 (Biochemical Activity), UBE2G1 (Affinity Capture-MS), UBE2G1 (Reconstituted Complex), UBE2G1 (Affinity Capture-MS), UBE2G1 (Reconstituted Complex), UBE2G1 (Affinity Capture-RNA), UBE2G1 (Co-fractionation), UBE2G1 (Reconstituted Complex), UBE2G1 (Affinity Capture-MS), UBE2G1 (Reconstituted Complex), UBE2G1 (Reconstituted Complex), UBE2G1 (Biochemical Activity), UBE2G1 (Affinity Capture-RNA), UBE2G1 (Reconstituted Complex)
ESM2 similar proteins: A3KN22, O74549, P0C8G3, P21734, P25869, P27949, P49427, P51965, P52482, P52491, P61081, P61082, P62253, P62254, P62255, Q08BH7, Q1RMW1, Q29503, Q3UWQ3, Q42540, Q42541, Q54TI6, Q55EY8, Q5M8Y2, Q5U203, Q5ZKX6, Q6C9W0, Q6CSW8, Q6DCZ9, Q6FVQ8, Q6IRC7, Q6NY82, Q6P8D9, Q6ZWZ2, Q712K3, Q75AF2, Q7ZY08, Q8CFI2, Q91W82, Q95017
Diamond homologs: A0A1B0GUS4, A5PJC4, A5PKP9, D3ZDK2, O13685, O14933, O74196, O74810, P0C8G3, P0C8G4, P0C8G5, P15731, P15732, P21734, P25867, P25869, P27949, P35128, P35129, P35131, P35132, P35133, P35134, P35135, P43102, P46595, P49427, P51668, P51965, P52482, P52483, P52485, P52487, P52490, P52492, P61077, P61078, P61079, P61080, P61088
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| “Ub:E1 (UBA1 substrate)” | “up-regulates activity” | UBE2G1 | ubiquitination |
| “Ub:E1 (UBA6 substrate)” | “up-regulates activity” | UBE2G1 | ubiquitination |
Disease & clinical
Clinical variants and AI predictions
ClinVar
11 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 1 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1868 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:4282918:CTTT:C | acceptor_gain | 1.0000 |
| 17:4282922:C:CC | acceptor_gain | 1.0000 |
| 17:4289224:CCTTA:C | donor_loss | 1.0000 |
| 17:4289225:CTTA:C | donor_loss | 1.0000 |
| 17:4289226:TTAC:T | donor_loss | 1.0000 |
| 17:4289227:TAC:T | donor_loss | 1.0000 |
| 17:4289228:A:AC | donor_gain | 1.0000 |
| 17:4289229:C:CC | donor_gain | 1.0000 |
| 17:4289229:C:CT | donor_loss | 1.0000 |
| 17:4289229:CCG:C | donor_gain | 1.0000 |
| 17:4289370:CA:C | acceptor_gain | 1.0000 |
| 17:4289371:A:AC | acceptor_gain | 1.0000 |
| 17:4289371:A:C | acceptor_gain | 1.0000 |
| 17:4289405:TCAA:T | acceptor_gain | 1.0000 |
| 17:4289406:CAA:C | acceptor_gain | 1.0000 |
| 17:4289406:CAAC:C | acceptor_gain | 1.0000 |
| 17:4289409:C:CC | acceptor_gain | 1.0000 |
| 17:4296815:C:CC | acceptor_gain | 1.0000 |
| 17:4307012:TATAC:T | donor_loss | 1.0000 |
| 17:4307013:ATACT:A | donor_loss | 1.0000 |
| 17:4307014:TACTT:T | donor_loss | 1.0000 |
| 17:4307015:ACTT:A | donor_loss | 1.0000 |
| 17:4307016:CTTAC:C | donor_loss | 1.0000 |
| 17:4307017:TT:T | donor_loss | 1.0000 |
| 17:4307018:TACTA:T | donor_loss | 1.0000 |
| 17:4307019:A:AC | donor_gain | 1.0000 |
| 17:4307019:ACTAA:A | donor_loss | 1.0000 |
| 17:4307020:C:CA | donor_gain | 1.0000 |
| 17:4307020:C:G | donor_loss | 1.0000 |
| 17:4307020:CT:C | donor_gain | 1.0000 |
AlphaMissense
1119 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:4289234:G:T | A141D | 1.000 |
| 17:4289287:A:C | S123R | 1.000 |
| 17:4289287:A:T | S123R | 1.000 |
| 17:4289289:T:G | S123R | 1.000 |
| 17:4289323:C:A | W111C | 1.000 |
| 17:4289323:C:G | W111C | 1.000 |
| 17:4289325:A:G | W111R | 1.000 |
| 17:4289325:A:T | W111R | 1.000 |
| 17:4289375:A:G | L94P | 1.000 |
| 17:4296788:A:G | L59P | 1.000 |
| 17:4307058:A:G | W38R | 1.000 |
| 17:4307058:A:T | W38R | 1.000 |
| 17:4282878:A:T | V157D | 0.999 |
| 17:4289246:G:T | A137D | 0.999 |
| 17:4289249:G:T | P136H | 0.999 |
| 17:4289273:A:G | L128P | 0.999 |
| 17:4289280:A:G | S126P | 0.999 |
| 17:4289285:A:T | V124D | 0.999 |
| 17:4289297:A:T | I120N | 0.999 |
| 17:4289321:A:G | L112P | 0.999 |
| 17:4289324:C:G | W111S | 0.999 |
| 17:4289327:C:G | R110P | 0.999 |
| 17:4289328:G:T | R110S | 0.999 |
| 17:4289341:T:A | E105D | 0.999 |
| 17:4289341:T:G | E105D | 0.999 |
| 17:4289342:T:A | E105V | 0.999 |
| 17:4289358:C:G | D100H | 0.999 |
| 17:4289371:A:C | H95Q | 0.999 |
| 17:4289371:A:T | H95Q | 0.999 |
| 17:4289373:G:C | H95D | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000002842 (17:4360245 TA>T,TAA), RS1000014444 (17:4365449 A>G), RS1000091977 (17:4301095 A>G,T), RS1000117274 (17:4307728 C>A), RS1000143879 (17:4329062 G>A), RS1000159153 (17:4347390 T>C), RS1000184489 (17:4328825 G>A), RS1000203414 (17:4320552 G>A), RS1000238580 (17:4337415 G>A), RS1000247681 (17:4312837 A>T), RS1000278702 (17:4312651 G>A,C), RS1000303792 (17:4274396 A>G), RS1000318931 (17:4295768 A>T), RS1000321494 (17:4358003 GA>G,GAA), RS1000327883 (17:4331864 T>C)
Disease associations
OMIM: gene MIM:601569 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004484_4 | Plasma trimethylamine N-oxide levels | 9.000000e-08 |
| GCST004746_49 | Small cell lung carcinoma | 2.000000e-06 |
| GCST010002_118 | Refractive error | 6.000000e-14 |
| GCST010396_87 | Gut microbiota (bacterial taxa, hurdle binary method) | 9.000000e-07 |
| GCST012298_8 | Schizophrenia, bipolar disorder or major depressive disorder x sex interaction | 5.000000e-06 |
| GCST012309_3 | Schizophrenia | 2.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005691 | plasma trimethylamine N-oxide measurement |
| EFO:0007874 | gut microbiome measurement |
| EFO:0008343 | sex interaction measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| bisphenol A | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Paraquat | increases expression | 1 |
| Potassium Dichromate | increases expression | 1 |
| Rotenone | increases expression | 1 |
| Sarin | decreases expression | 1 |
| Dihydrotestosterone | increases expression | 1 |
| Thiram | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Vincristine | decreases expression | 1 |
| Sertraline | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 2 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3KK | Abcam HEK293T UBE2G1 KO | Transformed cell line | Female |
| CVCL_TV68 | HAP1 UBE2G1 (-) 1 | Cancer cell line | Male |
| CVCL_TV69 | HAP1 UBE2G1 (-) 2 | 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): major depressive disorder, small cell lung carcinoma