UBE2W

Summary

UBE2W (ubiquitin conjugating enzyme E2 W, HGNC:25616) is a protein-coding gene on chromosome 8q21.11, encoding Ubiquitin-conjugating enzyme E2 W (Q96B02). Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins.

This gene encodes a nuclear-localized ubiquitin-conjugating enzyme (E2) that, along with ubiquitin-activating (E1) and ligating (E3) enzymes, coordinates the addition of a ubiquitin moiety to existing proteins. The encoded protein promotes the ubiquitination of Fanconi anemia complementation group proteins and may be important in the repair of DNA damage. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 55284 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 19 total
• MANE Select transcript: NM_018299

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25616
Approved symbol	UBE2W
Name	ubiquitin conjugating enzyme E2 W
Location	8q21.11
Locus type	gene with protein product
Status	Approved
Aliases	FLJ11011, UBC-16
Ensembl gene	ENSG00000104343
Ensembl biotype	protein_coding
OMIM	614277
Entrez	55284

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 13 protein_coding, 3 nonsense_mediated_decay

ENST00000419880, ENST00000422906, ENST00000517608, ENST00000519255, ENST00000519277, ENST00000523278, ENST00000602593, ENST00000650817, ENST00000651945, ENST00000851362, ENST00000851363, ENST00000940464, ENST00000940465, ENST00000940466, ENST00000940467, ENST00000953497

RefSeq mRNA: 3 — MANE Select: NM_018299 NM_001001481, NM_001271015, NM_018299

CCDS: CCDS47874, CCDS47875

Canonical transcript exons

ENST00000602593 — 6 exons

Exon	Start	End
ENSE00003308569	73786219	73794115
ENSE00003500513	73810474	73810629
ENSE00003569670	73805651	73805726
ENSE00003574846	73825147	73825249
ENSE00003596938	73830381	73830472
ENSE00003844822	73878808	73878862

Expression profiles

Bgee: expression breadth ubiquitous, 269 present calls, max score 96.14.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.2981 / max 215.3042, expressed in 1785 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
93617	13.1155	1783
93610	0.1826	43

Top tissues by expression

283 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	96.14	gold quality
endothelial cell	CL:0000115	94.40	gold quality
secondary oocyte	CL:0000655	94.25	gold quality
adrenal tissue	UBERON:0018303	91.62	gold quality
calcaneal tendon	UBERON:0003701	90.75	gold quality
corpus epididymis	UBERON:0004359	90.34	gold quality
Brodmann (1909) area 23	UBERON:0013554	90.01	gold quality
monocyte	CL:0000576	89.81	gold quality
mononuclear cell	CL:0000842	89.45	gold quality
palpebral conjunctiva	UBERON:0001812	89.43	gold quality
cauda epididymis	UBERON:0004360	89.40	gold quality
pericardium	UBERON:0002407	89.28	gold quality
leukocyte	CL:0000738	89.18	gold quality
buccal mucosa cell	CL:0002336	89.00	gold quality
islet of Langerhans	UBERON:0000006	87.89	gold quality
postcentral gyrus	UBERON:0002581	87.75	gold quality
caput epididymis	UBERON:0004358	87.67	gold quality
cartilage tissue	UBERON:0002418	87.66	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.26	gold quality
primary visual cortex	UBERON:0002436	86.92	gold quality
parietal lobe	UBERON:0001872	86.79	gold quality
cortical plate	UBERON:0005343	86.74	gold quality
sperm	CL:0000019	86.62	gold quality
cerebellar vermis	UBERON:0004720	86.55	gold quality
pons	UBERON:0000988	86.30	gold quality
esophagus squamous epithelium	UBERON:0006920	85.88	gold quality
amniotic fluid	UBERON:0000173	85.86	gold quality
prefrontal cortex	UBERON:0000451	85.77	gold quality
superior frontal gyrus	UBERON:0002661	85.72	gold quality
entorhinal cortex	UBERON:0002728	85.62	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.97

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

398 targeting UBE2W, 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-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5011-5P	100.00	83.46	5820
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-190A-3P	100.00	80.35	5520
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-32-5P	99.98	75.21	1964

Literature-anchored findings (GeneRIF, showing 9)

• human Ubiquitin-conjugating enzyme (E2) is homologous to the Arabidopsis thaliana UBC-16 gene product and contains 2 nuclear localization signals (PMID:16368532)
• UBE2W regulates FANCD2 monoubiquitination by mechanisms different from UBE2T and HRR6. (PMID:21229326)
• Ube2w has novel enzymatic properties that direct ubiquitination of the N terminus of substrates (PMID:23696636)
• We show the ubequitin-conjugating enzyme (E2) Ube2w uses a unique mechanism to facilitate the specific ubiquitination of the alpha-amino group (PMID:25436519)
• TRIM5alpha requires Ube2W to anchor Lys63-linked ubiquitin chains and restrict reverse transcription. (PMID:26101372)
• Thus, although Rnf4 and Ube2w functionally interact in vitro, these genetic experiments indicate that in response to DNA damage Ube2w and Rnf4 function in distinct pathways. (PMID:27185577)
• we show in vitro that UBE2W can modify the N-terminus of both a-synuclein and a tau tetra-repeat domain with a single ubiquitin. We demonstrate that an engineered N-terminal ubiquitin modification changes the aggregation process of both proteins, resulting in the formation of structurally distinct aggregates (PMID:31518613)
• Prognostic value of ubiquitin E2 UBE2W and its correlation with tumor-infiltrating immune cells in breast cancer. (PMID:33931024)
• Genetic code expansion reveals aminoacylated lysine ubiquitination mediated by UBE2W. (PMID:36593310)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	ube2wa	ENSDARG00000044923
danio_rerio	ube2wb	ENSDARG00000045360
mus_musculus	Ube2w	ENSMUSG00000025939
rattus_norvegicus	Ube2w	ENSRNOG00000050465
rattus_norvegicus	Ube2w	ENSRNOG00000062415
drosophila_melanogaster	CG7220	FBGN0033544
caenorhabditis_elegans	ubc-16	WBGENE00006711

Paralogs (24): UBE2T (ENSG00000077152), UBE2A (ENSG00000077721), UBE2K (ENSG00000078140), CDC34 (ENSG00000099804), UBE2I (ENSG00000103275), UBE2R2 (ENSG00000107341), UBE2S (ENSG00000108106), UBE2B (ENSG00000119048), UBE2G1 (ENSG00000132388), 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 W — Q96B02 (reviewed: Q96B02)

Alternative names: E2 ubiquitin-conjugating enzyme W, N-terminal E2 ubiquitin-conjugating enzyme, N-terminus-conjugating E2, Ubiquitin carrier protein W, Ubiquitin-conjugating enzyme 16, Ubiquitin-protein ligase W

All UniProt accessions (4): E5RG25, Q96B02, H0YB73, X6REH9

UniProt curated annotations — full annotation on UniProt →

Function. Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Specifically monoubiquitinates the N-terminus of various substrates, including ATXN3, MAPT/TAU, POLR2H/RPB8 and STUB1/CHIP, by recognizing backbone atoms of disordered N-termini. Involved in degradation of misfolded chaperone substrates by mediating monoubiquitination of STUB1/CHIP, leading to recruitment of ATXN3 to monoubiquitinated STUB1/CHIP, and restriction of the length of ubiquitin chain attached to STUB1/CHIP substrates by ATXN3. After UV irradiation, but not after mitomycin-C (MMC) treatment, acts as a specific E2 ubiquitin-conjugating enzyme for the Fanconi anemia complex by associating with E3 ubiquitin-protein ligase FANCL and catalyzing monoubiquitination of FANCD2, a key step in the DNA damage pathway. In vitro catalyzes ‘Lys-11’-linked polyubiquitination. UBE2W-catalyzed ubiquitination also occurs in the presence of inactive RING/U-box type E3s, i.e. lacking the active site cysteine residues to form thioester bonds with ubiquitin, or even in the absence of E3, albeit at a slower rate.

Subunit / interactions. Homodimer. Interacts with FANCL. Interacts with STUB1/CHIP.

Subcellular location. Nucleus.

Tissue specificity. Widely expressed, with highest expression in brain, liver, pancreas and heart.

Post-translational modifications. Autoubiquitinated at Met-1.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the ubiquitin-conjugating enzyme family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96B02-1	1	yes
Q96B02-2	2
Q96B02-3	3

RefSeq proteins (3): NP_001001481, NP_001257944, NP_060769* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000608	UBC	Domain
IPR016135	UBQ-conjugating_enzyme/RWD	Homologous_superfamily
IPR050113	Ub_conjugating_enzyme-E2-like	Family

Pfam: PF00179

Enzyme classification (BRENDA):

• EC 2.3.2.24 — (E3-independent) E2 ubiquitin-conjugating enzyme (BRENDA: 5 organisms, 56 substrates, 7 inhibitors, 6 Km, 6 kcat entries)
• EC 2.3.2.25 — N-terminal E2 ubiquitin-conjugating enzyme (BRENDA: 2 organisms, 22 substrates, 0 inhibitors, 0 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
[HISTONE H2A]-L-LYSINE	0.0008–0.0028	2
[HISTONE H2B]-L-LYSINE	0.0015–0.012	2
[CYTOCHROME C]-L-LYSINE	0.125	1
[HISTONE H3]-L-LYSINE	0.0013	1

UniProt features (25 total): mutagenesis site 5, strand 5, helix 4, turn 3, sequence conflict 2, splice variant 2, chain 1, domain 1, active site 1, cross-link 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
2A7L	X-RAY DIFFRACTION	1.82
8A58	X-RAY DIFFRACTION	2.25
2MT6	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96B02-F1	86.96	0.71

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): 91 (glycyl thioester intermediate)

Post-translational modifications (1): 1

Mutagenesis-validated functional residues (5):

Position	Phenotype
144	loss of ubiquitination activity toward various substrates, including polr2h, atxn3, stub1 and mapt.
83	impaired substrate ubiquitination of both tau and atxn3.
91	loss of predominant nuclear localization.
91	loss of ubiquitin conjugating activity.
132–145	loss of ubiquitination activity.

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: 272 (showing top): RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, TTTGTAG_MIR520D, ATACCTC_MIR202, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, CAGGTCC_MIR492, CTATGCA_MIR153, GGGTGGRR_PAX4_03, AAAYRNCTG_UNKNOWN, CAGCTG_AP4_Q5, YY1_Q6

GO Biological Process (13): protein polyubiquitination (GO:0000209), DNA repair (GO:0006281), protein monoubiquitination (GO:0006513), protein quality control for misfolded or incompletely synthesized proteins (GO:0006515), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), protein K11-linked ubiquitination (GO:0070979), cellular response to misfolded protein (GO:0071218), antiviral innate immune response (GO:0140374), negative regulation of TORC1 signaling (GO:1904262), DNA damage response (GO:0006974), protein ubiquitination (GO:0016567), cellular response to nutrient levels (GO:0031669), TORC1 signaling (GO:0038202)

GO Molecular Function (7): 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)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), membrane (GO:0016020)

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
cellular anatomical structure	3
protein ubiquitination	2
DNA metabolic process	1
DNA damage response	1
protein catabolic process	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
protein polyubiquitination	1
cellular response to topologically incorrect protein	1
response to misfolded protein	1
innate immune response	1
defense response to virus	1
negative regulation of TOR signaling	1
TORC1 signaling	1
regulation of TORC1 signaling	1
cellular response to stress	1
protein modification by small protein conjugation	1
response to nutrient levels	1
cellular response to stimulus	1
TOR signaling	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
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1950 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UBE2W	FANCL	Q9NW38	947
UBE2W	ATXN3L	Q9H3M9	781
UBE2W	ATXN3	P54252	777
UBE2W	UBE2V2	Q15819	771
UBE2W	UBE2J2	Q8N2K1	728
UBE2W	UBE2J1	Q9Y385	665
UBE2W	UBE2H	P37286	647
UBE2W	G3V2F7	G3V2F7	641
UBE2W	UBA1	P22314	584
UBE2W	UBE2E2	Q96LR5	528
UBE2W	UBE2T	Q9NPD8	516
UBE2W	UBE2Q1	Q7Z7E8	507
UBE2W	UBE2Z	Q9H832	499
UBE2W	UBA7	P41226	477
UBE2W	UBE2G2	P56554	469
UBE2W	TRIM5	Q9C035	469

IntAct

102 interactions, top by confidence:

A	B	Type	Score
MARCHF5	UBE2W	psi-mi:“MI:0915”(physical association)	0.740
UBE2W	MARCHF5	psi-mi:“MI:0915”(physical association)	0.740
PSTPIP1	UBE2W	psi-mi:“MI:0915”(physical association)	0.670
RNF5	UBE2W	psi-mi:“MI:0915”(physical association)	0.670
UBE2W	PSTPIP1	psi-mi:“MI:0915”(physical association)	0.670
UBE2W	RNF5	psi-mi:“MI:0915”(physical association)	0.670
USHBP1	UBE2W	psi-mi:“MI:0915”(physical association)	0.560
ROPN1	UBE2W	psi-mi:“MI:0915”(physical association)	0.560
UBE2W	USHBP1	psi-mi:“MI:0915”(physical association)	0.560
UBE2W	CCT5	psi-mi:“MI:0915”(physical association)	0.560
AMFR	UBE2W	psi-mi:“MI:0915”(physical association)	0.550
UBE2W	RNF111	psi-mi:“MI:0915”(physical association)	0.550
UBE2W	RNF167	psi-mi:“MI:0915”(physical association)	0.550
RNF26	UBE2W	psi-mi:“MI:0915”(physical association)	0.550
UBE2W	RNF115	psi-mi:“MI:0915”(physical association)	0.550
UBE2W	RNF26	psi-mi:“MI:0915”(physical association)	0.550
UBE2W	AMFR	psi-mi:“MI:0915”(physical association)	0.550
RNF111	UBE2W	psi-mi:“MI:0915”(physical association)	0.550

BioGRID (147): RNF123 (Two-hybrid), RNF26 (Two-hybrid), UBE2W (Two-hybrid), UBE2W (Two-hybrid), UBE2W (Two-hybrid), UBE2W (Two-hybrid), USHBP1 (Two-hybrid), STUB1 (Biochemical Activity), UBE2W (Affinity Capture-MS), UBE2W (Biochemical Activity), UBE2W (Reconstituted Complex), UBE2W (Reconstituted Complex), POLR2H (Co-crystal Structure), MAPT (Co-crystal Structure), PSTPIP1 (Two-hybrid)

ESM2 similar proteins: A6H795, B3RTL9, B5DEI4, B5X1G6, B9EM04, C1BKD1, C1BZU2, C3ZDX5, O23239, P42743, Q02384, Q07889, Q07890, Q13404, Q15819, Q1JPX4, Q28FC1, Q28IA3, Q32L27, Q3SZ43, Q3SZ52, Q498F8, Q4R5E1, Q4VBH4, Q5E953, Q5F3Z3, Q5R4Z6, Q5R6C9, Q5RE48, Q5XGV8, Q5ZJJ5, Q6BBI8, Q6DEN0, Q6DJ78, Q6PEH5, Q7M767, Q7ZYX1, Q8VDW4, Q90879, Q96B02

Diamond homologs: A5PKP9, A6H795, B5DEI4, D3ZDK2, O00762, O13685, O23239, O74196, P06104, P0C8G3, P0C8G4, P0C8G5, P15731, P15732, P23566, P25865, P25866, P25867, P25869, P27949, P35129, P35130, P35131, P35132, P35133, P35134, P35135, P42743, P42745, P42747, P43102, P46595, P49459, P51668, P51965, P52482, P52483, P52485, P52490, P56616

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
“Ub:E1 (UBA1 substrate)”	“up-regulates activity”	UBE2W	ubiquitination
“Ub:E1 (UBA6 substrate)”	“up-regulates activity”	UBE2W	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 82 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
Calnexin/calreticulin cycle	5	58.5×	2e-06
ER Quality Control Compartment (ERQC)	5	44.6×	6e-06
N-glycan trimming in the ER and Calnexin/Calreticulin cycle	5	34.7×	1e-05
Class I MHC mediated antigen processing & presentation	13	14.9×	4e-10
Interferon gamma signaling	6	12.3×	4e-04
Antigen processing: Ubiquitination & Proteasome degradation	19	11.6×	3e-13
Adaptive Immune System	13	6.3×	6e-06

GO biological processes:

GO term	Partners	Fold	FDR
protein autoubiquitination	15	43.3×	5e-19
protein K63-linked ubiquitination	13	42.9×	2e-16
protein polyubiquitination	21	29.9×	5e-23
protein K48-linked ubiquitination	14	29.1×	3e-15
protein monoubiquitination	6	25.5×	6e-06
ubiquitin-dependent protein catabolic process	21	19.2×	2e-19
protein ubiquitination	26	13.3×	3e-20
positive regulation of protein ubiquitination	5	13.2×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

19 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	2
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2101 predictions. Top by Δscore:

Variant	Effect	Δscore
8:73805645:GCTTA:G	donor_loss	1.0000
8:73805646:CTTA:C	donor_loss	1.0000
8:73805647:TTA:T	donor_loss	1.0000
8:73805648:TA:T	donor_loss	1.0000
8:73805648:TACCA:T	donor_loss	1.0000
8:73805649:A:AC	donor_gain	1.0000
8:73805650:C:CC	donor_gain	1.0000
8:73805658:C:CT	donor_gain	1.0000
8:73805659:C:CT	donor_gain	1.0000
8:73805722:CGTCT:C	acceptor_gain	1.0000
8:73805723:GTCTC:G	acceptor_loss	1.0000
8:73805724:TCTCT:T	acceptor_loss	1.0000
8:73805725:CT:C	acceptor_gain	1.0000
8:73805726:TC:T	acceptor_loss	1.0000
8:73805727:C:CC	acceptor_gain	1.0000
8:73805727:CTGA:C	acceptor_loss	1.0000
8:73805728:T:A	acceptor_loss	1.0000
8:73805728:T:C	acceptor_loss	1.0000
8:73830375:ACTT:A	donor_loss	1.0000
8:73830376:CT:C	donor_loss	1.0000
8:73830377:TT:T	donor_loss	1.0000
8:73830378:TA:T	donor_loss	1.0000
8:73830378:TAC:T	donor_loss	1.0000
8:73830379:A:AC	donor_gain	1.0000
8:73830379:ACTG:A	donor_loss	1.0000
8:73830380:C:CA	donor_gain	1.0000
8:73830380:CT:C	donor_gain	1.0000
8:73830380:CTG:C	donor_gain	1.0000
8:73830380:CTGT:C	donor_gain	1.0000
8:73830380:CTGTG:C	donor_gain	1.0000

AlphaMissense

998 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:73810543:C:A	W99C	1.000
8:73810543:C:G	W99C	1.000
8:73810545:A:G	W99R	1.000
8:73810545:A:T	W99R	1.000
8:73810577:C:A	G88V	1.000
8:73810577:C:T	G88D	1.000
8:73810589:A:T	V84D	1.000
8:73805661:C:A	W144C	0.999
8:73805661:C:G	W144C	0.999
8:73805663:A:G	W144R	0.999
8:73805663:A:T	W144R	0.999
8:73810493:A:G	L116P	0.999
8:73810498:G:C	S114R	0.999
8:73810498:G:T	S114R	0.999
8:73810500:T:G	S114R	0.999
8:73810507:G:C	S111R	0.999
8:73810507:G:T	S111R	0.999
8:73810509:T:G	S111R	0.999
8:73810511:A:G	L110P	0.999
8:73810513:A:C	C109W	0.999
8:73810515:A:G	C109R	0.999
8:73810517:A:T	V108D	0.999
8:73810526:A:T	V105D	0.999
8:73810532:A:G	L103P	0.999
8:73810556:A:G	L95P	0.999
8:73810569:A:G	C91R	0.999
8:73810571:A:T	I90N	0.999
8:73810604:G:T	P79H	0.999
8:73810621:A:C	F73L	0.999
8:73810621:A:T	F73L	0.999

dbSNP variants (sampled 300 via entrez): RS1000009912 (8:73855509 G>C,T), RS1000020447 (8:73815660 C>T), RS1000052431 (8:73808689 C>T), RS1000069166 (8:73861971 C>T), RS1000070097 (8:73782028 C>T), RS1000152948 (8:73854120 G>A,C), RS1000155857 (8:73815286 G>A,C,T), RS1000162161 (8:73871667 A>G), RS1000166747 (8:73831441 G>A,T), RS1000224995 (8:73821337 T>C), RS1000232468 (8:73786703 A>G), RS1000248117 (8:73786251 T>C), RS1000251927 (8:73828240 T>G), RS1000259397 (8:73796892 T>C), RS1000273069 (8:73808718 T>G)

Disease associations

OMIM: gene MIM:614277 | 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
GCST002828_17	Urate levels in obese individuals	8.000000e-06
GCST002932_29	Manganese levels	2.000000e-06
GCST010725_15	Malaria	2.000000e-07
GCST010725_27	Malaria	4.000000e-07
GCST010725_69	Malaria	6.000000e-06
GCST011837_9	Cervical high-risk human papilloma virus infection	2.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

42 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	8
trichostatin A	affects cotreatment, decreases expression	2
aminomethylphosphonic acid (AMPA)	affects methylation, increases abundance	1
dicrotophos	decreases expression	1
testosterone enanthate	affects expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
4-phenylbutyric acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
torcetrapib	increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	affects cotreatment, increases expression	1
jinfukang	decreases expression	1
NSC 689534	increases expression, affects binding	1
Leflunomide	increases expression	1
Glyphosate	affects methylation, increases abundance	1
Air Pollutants	affects expression, affects methylation, increases abundance	1
Atrazine	increases expression	1
Clorgyline	increases expression	1
Copper	affects binding, increases expression	1
Coumestrol	affects cotreatment, decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Gold	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_TV92	HAP1 UBE2W (-) 1	Cancer cell line	Male
CVCL_TV93	HAP1 UBE2W (-) 2	Cancer cell line	Male
CVCL_TV94	HAP1 UBE2W (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.