UBE2E2

Summary

UBE2E2 (ubiquitin conjugating enzyme E2 E2, HGNC:12478) is a protein-coding gene on chromosome 3p24.3, encoding Ubiquitin-conjugating enzyme E2 E2 (Q96LR5). Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins.

Enables ISG15 transferase activity and ubiquitin conjugating enzyme activity. Involved in protein modification by small protein conjugation. Acts upstream of or within DNA damage response and positive regulation of G1/S transition of mitotic cell cycle. Predicted to be active in nucleus. Implicated in type 2 diabetes mellitus.

Source: NCBI Gene 7325 — RefSeq curated summary.

At a glance

• GWAS associations: 36
• Clinical variants (ClinVar): 17 total
• MANE Select transcript: NM_152653

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12478
Approved symbol	UBE2E2
Name	ubiquitin conjugating enzyme E2 E2
Location	3p24.3
Locus type	gene with protein product
Status	Approved
Aliases	UbcH8, FLJ25157
Ensembl gene	ENSG00000182247
Ensembl biotype	protein_coding
OMIM	602163
Entrez	7325

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000335798, ENST00000396703, ENST00000425792, ENST00000427371, ENST00000452894, ENST00000917313

RefSeq mRNA: 3 — MANE Select: NM_152653 NM_001370225, NM_001370226, NM_152653

CCDS: CCDS2637

Canonical transcript exons

ENST00000396703 — 6 exons

Exon	Start	End
ENSE00001525971	23589734	23591794
ENSE00001525976	23203327	23203464
ENSE00001648562	23217262	23217312
ENSE00001730682	23499608	23499740
ENSE00003670823	23532554	23532701
ENSE00003799728	23208692	23208875

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 97.26.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.3242 / max 220.2426, expressed in 1748 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
35693	19.9874	1727
35694	5.4506	1581
35695	3.8252	1492
35692	2.1634	1318
35696	0.6058	333
35699	0.2918	116

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	97.26	gold quality
oviduct epithelium	UBERON:0004804	97.06	gold quality
prefrontal cortex	UBERON:0000451	96.25	gold quality
popliteal artery	UBERON:0002250	95.51	gold quality
tibial artery	UBERON:0007610	95.51	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.39	gold quality
germinal epithelium of ovary	UBERON:0001304	94.93	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	94.76	gold quality
aorta	UBERON:0000947	94.55	gold quality
left ventricle myocardium	UBERON:0006566	94.54	gold quality
frontal cortex	UBERON:0001870	94.44	gold quality
anterior cingulate cortex	UBERON:0009835	94.40	gold quality
right coronary artery	UBERON:0001625	94.25	gold quality
neocortex	UBERON:0001950	94.17	gold quality
left coronary artery	UBERON:0001626	94.12	gold quality
tibial nerve	UBERON:0001323	94.05	gold quality
cortical plate	UBERON:0005343	93.99	gold quality
coronary artery	UBERON:0001621	93.89	gold quality
upper arm skin	UBERON:0004263	93.84	gold quality
kidney epithelium	UBERON:0004819	93.79	gold quality
esophagus squamous epithelium	UBERON:0006920	93.67	gold quality
cerebral cortex	UBERON:0000956	93.60	gold quality
primary visual cortex	UBERON:0002436	93.55	gold quality
endothelial cell	CL:0000115	93.49	gold quality
hypothalamus	UBERON:0001898	93.49	gold quality
ascending aorta	UBERON:0001496	93.45	gold quality
thoracic aorta	UBERON:0001515	93.38	gold quality
right frontal lobe	UBERON:0002810	93.36	gold quality
cardiac muscle of right atrium	UBERON:0003379	93.24	gold quality
gingival epithelium	UBERON:0001949	93.17	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	9.28
E-ANND-3	yes	9.07
E-HCAD-5	yes	8.72
E-ENAD-17	no	94.07

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

88 targeting UBE2E2, 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-3613-3P	100.00	76.36	7965
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-652-5P	99.91	67.49	505
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-8062	99.88	68.43	995
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-636	99.80	69.58	1500
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-498-5P	99.76	69.64	1807

Literature-anchored findings (GeneRIF, showing 12)

• Siah proteins function as E3 ubiquitin-protein ligases (PMID:11786535)
• Ubc8 is a major ISG15-conjugating enzyme responsible for protein ISGylation upon interferon stimulation (PMID:15485925)
• Ubiquitin charging can function as a nuclear import trigger, and identify a novel link between E2 regulation and karyopherin-mediated transport. (PMID:15545318)
• Single nucleotide polymorphism in UBE2E2 is associated with type 2 diabetes. (PMID:20818381)
• The genetic variants of UBE2E2 are associated with gestational diabetes mellitus and fasting blood glucose. (PMID:23862583)
• Study found lack of association between UBE2E2 gene polymorphism (rs7612463) and type 2 diabetes mellitus in a Saudi population (PMID:25337779)
• rs7612463 UBE2E2 single nucleotide polymorphism is associated with type 2 diabetes mellitus in a Chinese Han population. (PMID:26020062)
• After adjustment for age, sex, and BMI, rs163182 in KCNQ1 and rs7612463 in UBE2E2 were found to be associated with Type 2 Diabetes Mellitus risk in Chinese Han population. (PMID:27175665)
• We investigated the modification of air pollution and diabetes association by a genetic risk score covering 63 T2D genes. Five single variants near GRB14, UBE2E2, PTPRD, VPS26A and KCNQ1 showed nominally significant interactions with PM10 (P<0.05). Our results suggest that genetic risk for T2D may modify susceptibility to air pollution through alterations in insulin sensitivity. (PMID:27281273)
• changes in methylation rates in umbilical cord samples were associated with the proportion of Firmicutes in the maternal gut (PMID:27863092)
• Ube2e2 underexpression is associated with metabolic diseases. (PMID:27918534)
• UBE2E2 enhances Snail-mediated epithelial-mesenchymal transition and Nrf2-mediated antioxidant activity in ovarian cancer. (PMID:36765041)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ube2e2	ENSMUSG00000058317
rattus_norvegicus	Ube2e2	ENSRNOG00000032690

Paralogs (12): UBE2D1 (ENSG00000072401), UBE2D4 (ENSG00000078967), UBE2D3 (ENSG00000109332), UBE2D2 (ENSG00000131508), UBE2Q2 (ENSG00000140367), UBE2L6 (ENSG00000156587), UBE2Q1 (ENSG00000160714), UBE2E3 (ENSG00000170035), UBE2E1 (ENSG00000170142), UBE2L3 (ENSG00000185651), UBE2QL1 (ENSG00000215218), UBE2L5 (ENSG00000236444)

Protein

Protein identifiers

Ubiquitin-conjugating enzyme E2 E2 — Q96LR5 (reviewed: Q96LR5)

Alternative names: E2 ubiquitin-conjugating enzyme E2, UbcH8, Ubiquitin carrier protein E2, Ubiquitin-protein ligase E2

All UniProt accessions (3): Q96LR5, C9J180, F8W8F0

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. Catalyzes the ISGylation of influenza A virus NS1 protein.

Post-translational modifications. Autoubiquitinated in vitro.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the ubiquitin-conjugating enzyme family.

RefSeq proteins (3): NP_001357154, NP_001357155, NP_689866* (*=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 (25 total): modified residue 5, helix 5, strand 4, turn 3, compositionally biased region 3, initiator methionine 1, chain 1, domain 1, region of interest 1, active site 1

Structure

Experimental structures (PDB)

10 structures.

PDB	Method	Resolution (Å)
1Y6L	X-RAY DIFFRACTION	1.85
6W9A	X-RAY DIFFRACTION	2.3
9BJZ	ELECTRON MICROSCOPY	2.83
9LTO	ELECTRON MICROSCOPY	2.92
9LTR	ELECTRON MICROSCOPY	3.03
9LTZ	ELECTRON MICROSCOPY	3.26
9LU1	ELECTRON MICROSCOPY	3.62
9W90	ELECTRON MICROSCOPY	3.7
9M0Y	ELECTRON MICROSCOPY	4.25
9LUL	ELECTRON MICROSCOPY	4.99

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96LR5-F1	85.96	0.74

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): 139 (glycyl thioester intermediate)

Post-translational modifications (5): 15, 18, 19, 2, 11

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation

MSigDB gene sets: 207 (showing top): GSE45365_NK_CELL_VS_BCELL_DN, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, WWTAAGGC_UNKNOWN, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, NKX25_02, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_POSITIVE_REGULATION_OF_MITOTIC_CELL_CYCLE, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_POSITIVE_REGULATION_OF_G1_S_TRANSITION_OF_MITOTIC_CELL_CYCLE, LINDGREN_BLADDER_CANCER_CLUSTER_2A_DN, CEBP_Q2, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOBP_PROTEIN_K11_LINKED_UBIQUITINATION

GO Biological Process (9): protein monoubiquitination (GO:0006513), DNA damage response (GO:0006974), ISG15-protein conjugation (GO:0032020), protein K63-linked ubiquitination (GO:0070534), protein K48-linked ubiquitination (GO:0070936), protein K11-linked ubiquitination (GO:0070979), positive regulation of G1/S transition of mitotic cell cycle (GO:1900087), negative regulation of gene expression (GO:0010629), protein ubiquitination (GO:0016567)

GO Molecular Function (7): ubiquitin-protein transferase activity (GO:0004842), ATP binding (GO:0005524), ISG15 transferase activity (GO:0042296), ubiquitin conjugating enzyme activity (GO:0061631), nucleotide binding (GO:0000166), protein binding (GO:0005515), transferase activity (GO:0016740)

GO Cellular Component (1): nucleus (GO:0005634)

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 polyubiquitination	3
protein modification by small protein conjugation	2
ubiquitin-like protein transferase activity	2
protein ubiquitination	1
cellular response to stress	1
G1/S transition of mitotic cell cycle	1
positive regulation of mitotic cell cycle phase transition	1
positive regulation of cell cycle G1/S phase transition	1
regulation of G1/S transition of mitotic cell cycle	1
gene expression	1
regulation of gene expression	1
negative regulation of macromolecule biosynthetic process	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

Protein interactions and networks

STRING

2746 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UBE2E2	PRKN	O60260	919
UBE2E2	UBA7	P41226	878
UBE2E2	HERC5	Q9UII4	733
UBE2E2	UBA1	P22314	733
UBE2E2	ARIH1	Q9Y4X5	724
UBE2E2	RING1	Q06587	707
UBE2E2	TRIM25	Q14258	702
UBE2E2	RNF8	O76064	692
UBE2E2	C2CD4A	Q8NCU7	691
UBE2E2	ISG15	P05161	680
UBE2E2	TRAF7	Q6Q0C0	660
UBE2E2	SIAH1	Q8IUQ4	651
UBE2E2	UBE3A	P78355	636
UBE2E2	USP18	Q9UMW8	625
UBE2E2	IPO11	Q9UI26	603

IntAct

159 interactions, top by confidence:

A	B	Type	Score
UBE2E2	MID1	psi-mi:“MI:0915”(physical association)	0.870
MID1	UBE2E2	psi-mi:“MI:0915”(physical association)	0.870
TRIM39	UBE2E2	psi-mi:“MI:0915”(physical association)	0.800
UBE2E2	TRIM39	psi-mi:“MI:0915”(physical association)	0.800
OTUB1	UBE2E2	psi-mi:“MI:0915”(physical association)	0.800
UBE2E2	OTUB1	psi-mi:“MI:0914”(association)	0.800
RNF5	UBE2E2	psi-mi:“MI:0915”(physical association)	0.790
UBE2E2	RNF5	psi-mi:“MI:0915”(physical association)	0.790
UBE2E2	DZIP3	psi-mi:“MI:0915”(physical association)	0.750
DZIP3	UBE2E2	psi-mi:“MI:0915”(physical association)	0.750
RNF25	UBE2E1	psi-mi:“MI:0914”(association)	0.750
UBE2E2	RNF25	psi-mi:“MI:0914”(association)	0.740
UBE2E2	RNF25	psi-mi:“MI:0915”(physical association)	0.740

BioGRID (174): UBE2E2 (Reconstituted Complex), UBE2E2 (Two-hybrid), RNF14 (Two-hybrid), RNF103 (Two-hybrid), UBE2E2 (Two-hybrid), UBE2E2 (Two-hybrid), DAZAP2 (Two-hybrid), MID2 (Two-hybrid), TRIM39 (Two-hybrid), ARRDC3 (Two-hybrid), FAM9B (Two-hybrid), DDA1 (Affinity Capture-Western), UBE2E2 (Reconstituted Complex), UBE2E2 (Two-hybrid), UBE2E2 (Two-hybrid)

ESM2 similar proteins: A2VDY4, A2Z5S8, A7SM54, A8Q8J2, A8XAF4, A9UR29, B0WVC4, B3MC02, B3NPZ0, B3RTL9, B4H538, B4HSI1, B4J9W6, B4KQQ4, B4LL39, B4MIX7, B4P6S9, B4QHD6, C3ZDX5, O01757, O76808, P27008, P27967, P27969, P42747, Q03598, Q0ZB76, Q178A5, Q1RMW1, Q1ZXC9, Q28X71, Q32L27, Q42540, Q5RHR0, Q7K1Z5, Q7PND3, Q7TSS2, Q7YQJ9, Q7Z7E8, Q8K224

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

3 interactions.

A	Effect	B	Mechanism
“Ub:E1 (UBA1 substrate)”	“up-regulates activity”	UBE2E2	ubiquitination
“Ub:E1 (UBA6 substrate)”	“up-regulates activity”	UBE2E2	ubiquitination
UBE2E2	“up-regulates activity”	RNF19B	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 59 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
Class I MHC mediated antigen processing & presentation	11	18.4×	9e-10
Antigen processing: Ubiquitination & Proteasome degradation	20	17.7×	1e-18
Adaptive Immune System	11	7.8×	5e-06

GO biological processes:

GO term	Partners	Fold	FDR
protein K63-linked ubiquitination	8	38.9×	1e-09
protein autoubiquitination	9	38.3×	1e-10
protein K48-linked ubiquitination	10	30.6×	7e-11
protein polyubiquitination	13	27.3×	1e-13
ubiquitin-dependent protein catabolic process	18	24.3×	2e-18
protein ubiquitination	22	16.6×	3e-19
proteasome-mediated ubiquitin-dependent protein catabolic process	10	9.5×	3e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	14
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4411 predictions. Top by Δscore:

Variant	Effect	Δscore
3:23208687:TCCA:T	acceptor_loss	1.0000
3:23208689:CA:C	acceptor_loss	1.0000
3:23208690:A:AG	acceptor_gain	1.0000
3:23208690:AG:A	acceptor_gain	1.0000
3:23208691:G:GG	acceptor_gain	1.0000
3:23208691:GG:G	acceptor_gain	1.0000
3:23208823:G:GT	donor_gain	1.0000
3:23208871:AAAAG:A	donor_loss	1.0000
3:23208874:AGG:A	donor_loss	1.0000
3:23208875:GGTAC:G	donor_loss	1.0000
3:23208876:G:A	donor_loss	1.0000
3:23208877:T:A	donor_loss	1.0000
3:23217253:A:AG	acceptor_gain	1.0000
3:23217254:T:G	acceptor_gain	1.0000
3:23217258:A:AG	acceptor_gain	1.0000
3:23217259:A:AG	acceptor_gain	1.0000
3:23217260:A:AG	acceptor_gain	1.0000
3:23217260:A:AT	acceptor_loss	1.0000
3:23217261:G:GG	acceptor_gain	1.0000
3:23217261:GA:G	acceptor_gain	1.0000
3:23217261:GAA:G	acceptor_gain	1.0000
3:23217261:GAAT:G	acceptor_gain	1.0000
3:23217309:GTAG:G	donor_gain	1.0000
3:23217310:TAG:T	donor_gain	1.0000
3:23217311:AG:A	donor_gain	1.0000
3:23217312:GG:G	donor_gain	1.0000
3:23217313:G:GG	donor_gain	1.0000
3:23217313:GTA:G	donor_loss	1.0000
3:23499603:TTCA:T	acceptor_loss	1.0000
3:23499604:TCA:T	acceptor_loss	1.0000

AlphaMissense

1314 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:23208869:C:A	A57D	1.000
3:23208874:A:G	R59G	1.000
3:23208875:G:C	R59T	1.000
3:23208875:G:T	R59I	1.000
3:23217262:A:C	R59S	1.000
3:23217262:A:T	R59S	1.000
3:23217264:T:A	I60N	1.000
3:23217264:T:C	I60T	1.000
3:23217264:T:G	I60S	1.000
3:23217272:G:A	E63K	1.000
3:23217273:A:G	E63G	1.000
3:23217273:A:T	E63V	1.000
3:23217276:T:A	L64H	1.000
3:23217276:T:C	L64P	1.000
3:23217278:G:C	A65P	1.000
3:23217297:C:A	P71H	1.000
3:23217300:C:A	P72H	1.000
3:23217300:C:G	P72R	1.000
3:23217308:T:C	C75R	1.000
3:23217309:G:A	C75Y	1.000
3:23217310:T:G	C75W	1.000
3:23499610:C:A	A77D	1.000
3:23499612:G:A	G78R	1.000
3:23499612:G:C	G78R	1.000
3:23499613:G:A	G78E	1.000
3:23499615:C:T	P79S	1.000
3:23499616:C:A	P79H	1.000
3:23499639:T:A	W87R	1.000
3:23499639:T:C	W87R	1.000
3:23499640:G:C	W87S	1.000

dbSNP variants (sampled 300 via entrez): RS1000003529 (3:23468024 C>T), RS1000003595 (3:23564400 A>G,T), RS1000016962 (3:23428950 A>G), RS1000020932 (3:23240126 T>A), RS1000034086 (3:23308584 G>A), RS1000047966 (3:23428633 A>C,G), RS1000050937 (3:23214944 T>G), RS1000058500 (3:23532077 GAAAA>G,GAAA,GAAAAA), RS1000069668 (3:23307096 A>C), RS1000079920 (3:23351558 A>C), RS1000090946 (3:23271213 C>T), RS1000096955 (3:23349720 A>C,G), RS1000110082 (3:23550860 G>A), RS1000112361 (3:23520858 G>A,C), RS1000115971 (3:23321427 G>A)

Disease associations

OMIM: gene MIM:602163 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

36 associations (top):

Study	Trait	p-value
GCST002128_2	Type 2 diabetes	4.000000e-07
GCST002211_6	Psychosis (atypical)	2.000000e-06
GCST002352_39	Type 2 diabetes	7.000000e-09
GCST002481_10	Acne (severe)	1.000000e-06
GCST002759_6	Motion sickness	3.000000e-21
GCST003181_2	Staphylococcus aureus nasal carriage (intermittent)	3.000000e-06
GCST003400_31	Type 2 diabetes	2.000000e-14
GCST003972_1	Visceral adipose tissue/subcutaneous adipose tissue ratio	3.000000e-10
GCST003972_4	Visceral adipose tissue/subcutaneous adipose tissue ratio	3.000000e-07
GCST003973_2	Visceral adipose tissue/subcutaneous adipose tissue ratio adjusted for BMI	2.000000e-08
GCST004011_2	RR interval (tricyclic/tetracyclic antidepressant use interaction)	2.000000e-08
GCST004785_11	Vitiligo	3.000000e-08
GCST004894_44	Type 2 diabetes	4.000000e-14
GCST005047_41	Type 2 diabetes	4.000000e-09
GCST005047_63	Type 2 diabetes	4.000000e-07
GCST006630_54	Diastolic blood pressure	9.000000e-12
GCST006867_20	Type 2 diabetes	3.000000e-18
GCST007102_7	Seasonality and depression	6.000000e-06
GCST007576_258	Chronotype	4.000000e-11
GCST007847_16	Type 2 diabetes	3.000000e-23
GCST007847_77	Type 2 diabetes	1.000000e-11
GCST007923_39	Medication use (drugs used in diabetes)	7.000000e-16
GCST009379_245	Type 2 diabetes	1.000000e-17
GCST009379_246	Type 2 diabetes	8.000000e-09
GCST009391_148	Metabolite levels	2.000000e-06
GCST009391_1792	Metabolite levels	2.000000e-06
GCST009391_597	Metabolite levels	1.000000e-07
GCST009391_600	Metabolite levels	2.000000e-06
GCST009439_12	Age-related cognitive decline (language) (slope of z-scores)	6.000000e-06
GCST010043_107	Asthma	1.000000e-10

EFO canonical traits (23, from GWAS)

EFO ID	Trait name
EFO:0006928	motion sickness
EFO:0007758	intermittent Staphylococcus aureus carrier status
EFO:0004767	visceral:subcutaneous adipose tissue ratio
EFO:0004340	body mass index
EFO:0004831	RR interval
EFO:0007916	response to tricyclic antidepressant
EFO:0006336	diastolic blood pressure
EFO:0006876	seasonality measurement
EFO:0008328	chronotype measurement
EFO:0009924	Drugs used in diabetes use measurement
EFO:0010476	dimethylglycine measurement
EFO:0010449	3-methyladipic acid measurement
EFO:0010524	pimelic acid measurement
EFO:0010502	indoxyl sulfate measurement
EFO:0007710	cognitive decline measurement
EFO:0003892	pulmonary function measurement
EFO:0004312	vital capacity
EFO:0004503	hematological measurement
EFO:0004732	lipoprotein measurement
EFO:0006941	grip strength measurement
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement
EFO:0004305	erythrocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression	4
Arsenic	affects methylation, increases methylation, increases abundance, increases expression	3
Valproic Acid	increases expression, affects expression	3
trichostatin A	affects cotreatment, decreases expression	2
sodium arsenite	affects methylation, increases abundance, increases expression	2
Air Pollutants	affects response to substance, decreases expression, increases abundance	2
Cisplatin	decreases expression	2
Cyclosporine	decreases methylation, increases expression	2
Particulate Matter	affects response to substance, decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, increases reaction	1
zinc chloride	increases expression	1
N-acetyl-4-benzoquinoneimine	affects response to substance	1
nickel sulfate	decreases expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Atrazine	increases expression	1
Cannabidiol	increases expression	1
Doxorubicin	decreases expression	1
Estradiol	decreases expression	1
Hydrogen Peroxide	affects expression	1
Quercetin	increases expression	1
Sodium Dodecyl Sulfate	decreases expression	1
Aflatoxin B1	decreases methylation	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TV64	HAP1 UBE2E2 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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