UBE2E3

Summary

UBE2E3 (ubiquitin conjugating enzyme E2 E3, HGNC:12479) is a protein-coding gene on chromosome 2q31.3, encoding Ubiquitin-conjugating enzyme E2 E3 (Q969T4). 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. The encoded protein shares 100% sequence identity with the mouse and rat counterparts, which indicates that this enzyme is highly conserved in eukaryotes. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene.

Source: NCBI Gene 10477 — RefSeq curated summary.

At a glance

• GWAS associations: 25
• Clinical variants (ClinVar): 11 total
• MANE Select transcript: NM_006357

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12479
Approved symbol	UBE2E3
Name	ubiquitin conjugating enzyme E2 E3
Location	2q31.3
Locus type	gene with protein product
Status	Approved
Aliases	UbcH9
Ensembl gene	ENSG00000170035
Ensembl biotype	protein_coding
OMIM	604151
Entrez	10477

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 25 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000392415, ENST00000410062, ENST00000602291, ENST00000602303, ENST00000602475, ENST00000602479, ENST00000602499, ENST00000602632, ENST00000602710, ENST00000602762, ENST00000602837, ENST00000602888, ENST00000602959, ENST00000602970, ENST00000888070, ENST00000888071, ENST00000888072, ENST00000888073, ENST00000888074, ENST00000888075, ENST00000919810, ENST00000919811, ENST00000919812, ENST00000919813, ENST00000919814, ENST00000959846, ENST00000959847, ENST00000959848, ENST00000959849

RefSeq mRNA: 4 — MANE Select: NM_006357 NM_001278554, NM_001278555, NM_006357, NM_182678

CCDS: CCDS2282

Canonical transcript exons

ENST00000410062 — 6 exons

Exon	Start	End
ENSE00001577193	180980605	180980973
ENSE00003487612	180984043	180984093
ENSE00003502711	181060665	181060812
ENSE00003537277	181057693	181057825
ENSE00003670506	180982018	180982236
ENSE00003848348	181062791	181063425

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 99.10.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 66.3985 / max 497.7512, expressed in 1820 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
23965	38.9398	1814
23963	8.2236	1723
23967	5.8401	1624
23968	3.4890	1543
23966	2.1800	1275
23970	1.8238	775
23964	1.6584	909
23962	1.4701	1073
23969	1.1723	592
23971	0.8108	413

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ganglionic eminence	UBERON:0004023	99.10	gold quality
cortical plate	UBERON:0005343	99.04	gold quality
stromal cell of endometrium	CL:0002255	98.75	gold quality
ventricular zone	UBERON:0003053	98.68	gold quality
superior frontal gyrus	UBERON:0002661	97.73	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.61	gold quality
prefrontal cortex	UBERON:0000451	97.34	gold quality
gall bladder	UBERON:0002110	97.22	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	97.17	gold quality
frontal cortex	UBERON:0001870	97.15	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.08	gold quality
cerebral cortex	UBERON:0000956	97.07	gold quality
gastrocnemius	UBERON:0001388	97.07	gold quality
muscle of leg	UBERON:0001383	97.04	gold quality
right frontal lobe	UBERON:0002810	96.85	gold quality
Ammon’s horn	UBERON:0001954	96.84	gold quality
primary visual cortex	UBERON:0002436	96.80	gold quality
tibial nerve	UBERON:0001323	96.76	gold quality
anterior cingulate cortex	UBERON:0009835	96.67	gold quality
endometrium	UBERON:0001295	96.61	gold quality
skeletal muscle tissue	UBERON:0001134	96.37	gold quality
islet of Langerhans	UBERON:0000006	96.35	gold quality
subcutaneous adipose tissue	UBERON:0002190	96.25	gold quality
body of pancreas	UBERON:0001150	96.22	gold quality
descending thoracic aorta	UBERON:0002345	96.20	gold quality
hypothalamus	UBERON:0001898	96.17	gold quality
pancreas	UBERON:0001264	96.14	gold quality
popliteal artery	UBERON:0002250	96.14	gold quality
nucleus accumbens	UBERON:0001882	96.13	gold quality
tibial artery	UBERON:0007610	96.13	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-HCAD-10	yes	37.77
E-GEOD-134144	yes	26.43
E-HCAD-5	yes	12.35
E-ANND-3	yes	10.24
E-HCAD-11	yes	7.90
E-MTAB-4850	no	370.95
E-GEOD-109979	no	249.74

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

81 targeting UBE2E3, 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-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-139-5P	99.80	69.50	1399
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-548AG	99.77	69.25	1492
HSA-MIR-5002-5P	99.76	70.84	1763
HSA-MIR-187-5P	99.74	70.26	1404
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-548M	99.70	68.87	1749
HSA-MIR-548BA	99.69	69.14	1514
HSA-MIR-548AI	99.69	69.24	1494

Literature-anchored findings (GeneRIF, showing 3)

• UBE2E3 is essential for the proliferation of RPE-1 cells and is downregulated during RPE layer maturation in the developing mouse eye. (PMID:18614808)
• Data indicate that ubiquitin-conjugating enzyme UBE2E3 and importin 11 (Imp-11)promote the nuclear accumulation and activity of transcription factor NF-E2 (Nrf2) by restricting the transcription factor from partitioning to the mitochondria. (PMID:25378586)
• Cells depleted of UBE2E3 become senescent in the absence of overt DNA damage and have a distinct senescence-associated secretory phenotype, increased mitochondrial and lysosomal mass, an increased sensitivity to mitochondrial and lysosomal poisons, and an increased basal autophagic flux. (PMID:29879550)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ube2e3	ENSDARG00000012244
mus_musculus	Ube2e3	ENSMUSG00000027011
rattus_norvegicus	Ube2e3	ENSRNOG00000004544

Paralogs (12): UBE2D1 (ENSG00000072401), UBE2D4 (ENSG00000078967), UBE2D3 (ENSG00000109332), UBE2D2 (ENSG00000131508), UBE2Q2 (ENSG00000140367), UBE2L6 (ENSG00000156587), UBE2Q1 (ENSG00000160714), UBE2E1 (ENSG00000170142), UBE2E2 (ENSG00000182247), UBE2L3 (ENSG00000185651), UBE2QL1 (ENSG00000215218), UBE2L5 (ENSG00000236444)

Protein

Protein identifiers

Ubiquitin-conjugating enzyme E2 E3 — Q969T4 (reviewed: Q969T4)

Alternative names: E2 ubiquitin-conjugating enzyme E3, UbcH9, Ubiquitin carrier protein E3, Ubiquitin-conjugating enzyme E2-23 kDa, Ubiquitin-protein ligase E3

All UniProt accessions (6): Q969T4, A0A1B0GX65, R4GMM6, R4GN77, R4GND1, R4GNG6

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-11’- and ‘Lys-48’-, as well as ‘Lys-63’-linked polyubiquitination. Participates in the regulation of transepithelial sodium transport in renal cells.

Subunit / interactions. The ubiquitin-loaded form interacts specifically with importin-11 (IPO11), leading to its import into the nucleus. Interacts with NEDD4L.

Subcellular location. Nucleus. Cytoplasm.

Tissue specificity. Ubiquitously expressed at low levels. Highly expressed in skeletal muscle.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the ubiquitin-conjugating enzyme family.

RefSeq proteins (4): NP_001265483, NP_001265484, NP_006348, NP_872619 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000608	UBC	Domain
IPR016135	UBQ-conjugating_enzyme/RWD	Homologous_superfamily
IPR023313	UBQ-conjugating_AS	Active_site

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 (18 total): sequence conflict 7, compositionally biased region 2, modified residue 2, initiator methionine 1, chain 1, mutagenesis site 1, domain 1, region of interest 1, active site 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
9P1Q	X-RAY DIFFRACTION	2.15

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q969T4-F1	85.42	0.72

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): 145 (glycyl thioester intermediate)

Post-translational modifications (2): 2, 8

Mutagenesis-validated functional residues (1):

Position	Phenotype
145	loss of 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: 241 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, FLECHNER_PBL_KIDNEY_TRANSPLANT_REJECTED_VS_OK_UP, GCM_GSPT1, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, PAL_PRMT5_TARGETS_UP, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, TTTGTAG_MIR520D, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GCM_ZNF198, GTCTACC_MIR379, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, MODULE_493, TATTATA_MIR374

GO Biological Process (7): protein monoubiquitination (GO:0006513), protein K63-linked ubiquitination (GO:0070534), protein K48-linked ubiquitination (GO:0070936), protein K11-linked ubiquitination (GO:0070979), protein polyubiquitination (GO:0000209), negative regulation of gene expression (GO:0010629), protein ubiquitination (GO:0016567)

GO Molecular Function (6): ubiquitin-protein transferase activity (GO:0004842), ATP binding (GO:0005524), 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), cytosol (GO:0005829), cytoplasm (GO:0005737)

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 polyubiquitination	3
cellular anatomical structure	3
protein ubiquitination	2
gene expression	1
regulation of gene expression	1
negative regulation of macromolecule biosynthetic process	1
protein modification by small protein conjugation	1
ubiquitin-like protein transferase activity	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
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

2386 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UBE2E3	IPO11	Q9UI26	911
UBE2E3	NEDD4L	Q96PU5	725
UBE2E3	MARCHF5	Q9NX47	672
UBE2E3	RPL12	P30050	621
UBE2E3	G3V2F7	G3V2F7	618
UBE2E3	UBA1	P22314	614
UBE2E3	UBE2E1	P51965	605
UBE2E3	NEIL1	Q96FI4	578
UBE2E3	MUL1	Q969V5	563
UBE2E3	NEDD4	P46934	518
UBE2E3	GABARAP	O95166	514
UBE2E3	UBE2V2	Q15819	508
UBE2E3	LRRC70	Q7Z2Q7	501
UBE2E3	RPL23A	P29316	498
UBE2E3	IPO5	O00410	485

IntAct

190 interactions, top by confidence:

A	B	Type	Score
RNF5	UBE2E3	psi-mi:“MI:0915”(physical association)	0.870
UBE2E3	RNF5	psi-mi:“MI:0915”(physical association)	0.870
UBE2E3	MID1	psi-mi:“MI:0915”(physical association)	0.830
UBE2E3	RNF185	psi-mi:“MI:0915”(physical association)	0.830
RNF185	UBE2E3	psi-mi:“MI:0915”(physical association)	0.830
MID1	UBE2E3	psi-mi:“MI:0915”(physical association)	0.830
RNF25	UBE2E3	psi-mi:“MI:0915”(physical association)	0.800
UBE2E3	RNF25	psi-mi:“MI:0915”(physical association)	0.800
UBE2E3	OTUB1	psi-mi:“MI:0915”(physical association)	0.800
RNF25	UBE2E1	psi-mi:“MI:0914”(association)	0.750
TRIM39	UBE2E3	psi-mi:“MI:0915”(physical association)	0.740
UBE2E3	TRIM39	psi-mi:“MI:0915”(physical association)	0.740
UBE2E3	RNF115	psi-mi:“MI:0915”(physical association)	0.670
UBE2E3	RNF2	psi-mi:“MI:0915”(physical association)	0.670
RNF11	UBE2E3	psi-mi:“MI:0915”(physical association)	0.670

BioGRID (236): UBE2E3 (Two-hybrid), UBE2E3 (Two-hybrid), UBE2E3 (Two-hybrid), TRIM39 (Two-hybrid), RNF185 (Two-hybrid), DDA1 (Affinity Capture-Western), UBE2E3 (Reconstituted Complex), RANGAP1 (Biochemical Activity), UBE2E3 (Reconstituted Complex), UBE2E3 (Affinity Capture-MS), UBE2E3 (Affinity Capture-MS), UBE2E3 (Affinity Capture-MS), UBE2E3 (Affinity Capture-MS), UBE2E3 (Affinity Capture-MS), UBE2E3 (Affinity Capture-MS)

ESM2 similar proteins: O00103, O00762, O09181, P0CS16, P0CS17, P50623, P52478, P52482, P52483, P52484, P52492, P56616, P62256, P62257, P63279, P63280, P63281, P63282, P63283, Q08BH7, Q28CQ4, Q2EF73, Q2T9X7, Q32LD2, Q32LN1, Q32PA5, Q42551, Q4PFA5, Q4R9D1, Q54XS6, Q6CUD9, Q6NY82, Q6Y1Z4, Q7ZY08, Q8L7T3, Q91W82, Q95017, Q95044, Q969T4, Q96LR5

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

5 interactions.

A	Effect	B	Mechanism
UBE2E3	“up-regulates quantity by stabilization”	NFKBIA	sumoylation
“Ub:E1 (UBA1 substrate)”	“up-regulates activity”	UBE2E3	ubiquitination
“Ub:E1 (UBA6 substrate)”	“up-regulates activity”	UBE2E3	ubiquitination
hsa-mir-379-5p	“down-regulates quantity by destabilization”	UBE2E3	“post transcriptional regulation”
hsa-miR-30a-3p	“down-regulates quantity by destabilization”	UBE2E3	“post transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 96 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
ER Quality Control Compartment (ERQC)	5	45.3×	2e-05
Chaperone Mediated Autophagy	5	41.4×	2e-05
N-glycan trimming in the ER and Calnexin/Calreticulin cycle	5	35.2×	2e-05
AUF1 (hnRNP D0) binds and destabilizes mRNA	5	20.7×	2e-04
Defective CFTR causes cystic fibrosis	5	18.3×	2e-04
E3 ubiquitin ligases ubiquitinate target proteins	5	16.1×	3e-04
AMPK-induced ERAD and lysosome mediated degradation of PD-L1(CD274)	5	16.1×	3e-04
Regulation of PTEN stability and activity	5	15.3×	4e-04

GO biological processes:

GO term	Partners	Fold	FDR
protein autoubiquitination	11	28.6×	2e-11
protein K48-linked ubiquitination	11	20.6×	6e-10
ubiquitin-dependent protein catabolic process	22	18.1×	2e-19
protein polyubiquitination	14	17.9×	7e-12
protein K63-linked ubiquitination	6	17.8×	1e-04
protein destabilization	5	16.1×	9e-04
protein ubiquitination	28	12.9×	5e-21
positive regulation of protein ubiquitination	5	11.8×	4e-03

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	5
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1750 predictions. Top by Δscore:

Variant	Effect	Δscore
2:180982003:T:TA	acceptor_gain	1.0000
2:180982013:A:AG	acceptor_gain	1.0000
2:180982014:A:G	acceptor_gain	1.0000
2:180982015:A:G	acceptor_gain	1.0000
2:180982015:AAG:A	acceptor_loss	1.0000
2:180982016:A:G	acceptor_gain	1.0000
2:180982016:AGTT:A	acceptor_loss	1.0000
2:180982017:G:GA	acceptor_gain	1.0000
2:180982017:GT:G	acceptor_gain	1.0000
2:180982017:GTT:G	acceptor_gain	1.0000
2:180982017:GTTTT:G	acceptor_gain	1.0000
2:180982152:A:T	donor_gain	1.0000
2:180982211:GC:G	donor_gain	1.0000
2:180982212:C:CG	donor_gain	1.0000
2:180982212:C:G	donor_gain	1.0000
2:180982235:AG:A	donor_loss	1.0000
2:180982238:T:G	donor_loss	1.0000
2:180984030:A:AG	acceptor_gain	1.0000
2:180984035:A:AG	acceptor_gain	1.0000
2:180999737:G:GT	donor_gain	1.0000
2:180999761:T:G	donor_gain	1.0000
2:181057687:A:AG	acceptor_gain	1.0000
2:181057688:A:G	acceptor_gain	1.0000
2:181057689:ATAGT:A	acceptor_gain	1.0000
2:181057691:A:AG	acceptor_gain	1.0000
2:181057691:AGT:A	acceptor_gain	1.0000
2:181057692:G:GA	acceptor_gain	1.0000
2:181057692:GT:G	acceptor_gain	1.0000
2:181057692:GTG:G	acceptor_gain	1.0000
2:181057692:GTGCT:G	acceptor_gain	1.0000

AlphaMissense

1357 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:180982236:G:C	R65T	1.000
2:180984043:A:C	R65S	1.000
2:180984043:A:T	R65S	1.000
2:180984045:T:A	I66N	1.000
2:180984045:T:C	I66T	1.000
2:180984045:T:G	I66S	1.000
2:180984053:G:A	E69K	1.000
2:180984054:A:T	E69V	1.000
2:180984057:T:C	L70P	1.000
2:180984059:G:C	A71P	1.000
2:180984066:T:A	I73K	1.000
2:180984066:T:C	I73T	1.000
2:180984066:T:G	I73R	1.000
2:180984081:C:A	P78H	1.000
2:180984089:T:C	C81R	1.000
2:180984090:G:A	C81Y	1.000
2:180984091:C:G	C81W	1.000
2:181057695:C:A	A83D	1.000
2:181057698:G:A	G84E	1.000
2:181057700:C:T	P85S	1.000
2:181057701:C:A	P85H	1.000
2:181057724:T:A	W93R	1.000
2:181057724:T:C	W93R	1.000
2:181057725:G:C	W93S	1.000
2:181057726:G:C	W93C	1.000
2:181057726:G:T	W93C	1.000
2:181057730:T:C	S95P	1.000
2:181057737:T:A	I97K	1.000
2:181057737:T:C	I97T	1.000
2:181057737:T:G	I97R	1.000

dbSNP variants (sampled 300 via entrez): RS1000022494 (2:181006701 T>C), RS1000039772 (2:180981653 C>T), RS1000066888 (2:180994881 A>C), RS1000082645 (2:181018281 G>T), RS1000097134 (2:181024028 A>G), RS1000111666 (2:180985478 A>G), RS1000140961 (2:181039893 T>C), RS1000149516 (2:181024242 A>G), RS1000154647 (2:181061715 C>T), RS1000219161 (2:181003307 C>T), RS1000241733 (2:181029569 T>C), RS1000255265 (2:181045596 A>C), RS1000278096 (2:181033228 C>A,T), RS1000284460 (2:180987373 C>G,T), RS1000336214 (2:180998206 G>A,T)

Disease associations

OMIM: gene MIM:604151 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

25 associations (top):

Study	Trait	p-value
GCST000612_2	Celiac disease	5.000000e-11
GCST001057_13	Obesity	2.000000e-06
GCST002783_286	Body mass index	5.000000e-09
GCST002783_543	Body mass index	1.000000e-08
GCST002783_57	Body mass index	4.000000e-08
GCST004601_35	Red blood cell count	4.000000e-10
GCST004610_49	White blood cell count	8.000000e-11
GCST005171_32	QT interval	6.000000e-07
GCST005523_9	Celiac disease	3.000000e-16
GCST005529_46	Ankylosing spondylitis	1.000000e-09
GCST005529_53	Ankylosing spondylitis	2.000000e-07
GCST005997_8	Lymphocyte count	3.000000e-08
GCST006979_47	Heel bone mineral density	3.000000e-25
GCST007323_46	Risk-taking tendency (4-domain principal component model)	4.000000e-08
GCST007326_57	Number of sexual partners	4.000000e-09
GCST008644_23	Celiac disease and Rheumatoid arthritis	6.000000e-09
GCST009597_171	Multiple sclerosis	1.000000e-06
GCST010572_11	Sweet taste preference	5.000000e-06
GCST90002379_28	Basophil count	3.000000e-09
GCST90002390_382	Mean corpuscular hemoglobin	1.000000e-09
GCST90002392_172	Mean corpuscular volume	2.000000e-10
GCST90002394_16	Monocyte percentage of white cells	2.000000e-09
GCST90002403_104	Red blood cell count	2.000000e-16
GCST90011900_133	Serum alkaline phosphatase levels	3.000000e-11
GCST90013406_192	Liver enzyme levels (alkaline phosphatase)	2.000000e-16

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004305	erythrocyte count
EFO:0004682	QT interval
EFO:0004587	lymphocyte count
EFO:0009270	heel bone mineral density
EFO:0008579	risk-taking behaviour
EFO:0010156	sweet liking measurement
EFO:0005090	basophil count
EFO:0004527	mean corpuscular hemoglobin
EFO:0007989	monocyte percentage of leukocytes
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases methylation	3
bisphenol F	affects cotreatment, increases methylation	1
trichostatin A	affects expression	1
beta-lapachone	decreases expression	1
arsenite	affects binding, increases reaction	1
butyraldehyde	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
candoxin	increases expression	1
obeticholic acid	increases expression	1
abrine	decreases expression	1
Irinotecan	decreases expression	1
Temozolomide	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Air Pollutants	decreases expression, increases abundance	1
Hydrogen Peroxide	affects expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Tetrachlorodibenzodioxin	affects expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	decreases methylation	1
Asbestos, Crocidolite	increases methylation	1
Antirheumatic Agents	increases expression	1
Particulate Matter	decreases expression, increases abundance	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TV65	HAP1 UBE2E3 (-) 1	Cancer cell line	Male
CVCL_TV66	HAP1 UBE2E3 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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