UBE2J2

Summary

UBE2J2 (ubiquitin conjugating enzyme E2 J2, HGNC:19268) is a protein-coding gene on chromosome 1p36.33, encoding Ubiquitin-conjugating enzyme E2 J2 (Q8N2K1). Catalyzes the covalent attachment of ubiquitin to other proteins. It is a selective cancer dependency (DepMap: 14.7% of cell lines).

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. This enzyme is located in the membrane of the endoplasmic reticulum. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined.

Source: NCBI Gene 118424 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 36 total
• Cancer dependency (DepMap): dependent in 14.7% of screened cell lines
• MANE Select transcript: NM_058167

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19268
Approved symbol	UBE2J2
Name	ubiquitin conjugating enzyme E2 J2
Location	1p36.33
Locus type	gene with protein product
Status	Approved
Aliases	Ubc6p, NCUBE2
Ensembl gene	ENSG00000160087
Ensembl biotype	protein_coding
OMIM	619756
Entrez	118424

Gene structure

Transcript identifiers

Ensembl transcripts: 35 — 25 protein_coding, 6 nonsense_mediated_decay, 2 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000347370, ENST00000349431, ENST00000360466, ENST00000400929, ENST00000400930, ENST00000422076, ENST00000435198, ENST00000450390, ENST00000461142, ENST00000464036, ENST00000466752, ENST00000467339, ENST00000471154, ENST00000473215, ENST00000477894, ENST00000488418, ENST00000491779, ENST00000502382, ENST00000503294, ENST00000509720, ENST00000905705, ENST00000905706, ENST00000905707, ENST00000905708, ENST00000905709, ENST00000905710, ENST00000905711, ENST00000905712, ENST00000905713, ENST00000905714, ENST00000919402, ENST00000919403, ENST00000919404, ENST00000954858, ENST00000954859

RefSeq mRNA: 4 — MANE Select: NM_058167 NM_058167, NM_194315, NM_194457, NM_194458

CCDS: CCDS14, CCDS15, CCDS16

Canonical transcript exons

ENST00000349431 — 7 exons

Exon	Start	End
ENSE00001936789	1253912	1255487
ENSE00003468437	1257208	1257310
ENSE00003500691	1256992	1257130
ENSE00003570987	1256045	1256125
ENSE00003612818	1263346	1263386
ENSE00003789377	1267862	1267992
ENSE00003899917	1273666	1273854

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 97.83.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 50.3525 / max 229.1512, expressed in 1824 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
9745	50.0834	1824
9743	0.1336	6
9742	0.1085	31
9744	0.0271	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	97.83	gold quality
right testis	UBERON:0004534	97.75	gold quality
pancreatic ductal cell	CL:0002079	97.29	gold quality
testis	UBERON:0000473	96.13	gold quality
lower esophagus mucosa	UBERON:0035834	95.63	gold quality
mucosa of transverse colon	UBERON:0004991	94.94	gold quality
granulocyte	CL:0000094	94.68	gold quality
monocyte	CL:0000576	94.62	gold quality
leukocyte	CL:0000738	94.51	gold quality
skin of leg	UBERON:0001511	94.50	gold quality
adenohypophysis	UBERON:0002196	94.40	gold quality
right uterine tube	UBERON:0001302	94.30	gold quality
skin of abdomen	UBERON:0001416	94.27	gold quality
body of stomach	UBERON:0001161	94.16	gold quality
spleen	UBERON:0002106	94.12	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.09	gold quality
cerebellar hemisphere	UBERON:0002245	94.05	gold quality
metanephros cortex	UBERON:0010533	93.98	gold quality
esophagus mucosa	UBERON:0002469	93.93	gold quality
right lobe of thyroid gland	UBERON:0001119	93.92	gold quality
body of uterus	UBERON:0009853	93.92	gold quality
left uterine tube	UBERON:0001303	93.88	gold quality
cerebellar cortex	UBERON:0002129	93.88	gold quality
small intestine Peyer’s patch	UBERON:0003454	93.88	gold quality
pituitary gland	UBERON:0000007	93.83	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	93.79	gold quality
muscle layer of sigmoid colon	UBERON:0035805	93.77	gold quality
transverse colon	UBERON:0001157	93.72	gold quality
esophagus	UBERON:0001043	93.70	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.68	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.32
E-MTAB-7303	no	495.07
E-MTAB-6058	no	18.18

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting UBE2J2, 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-3646	100.00	73.56	5283
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-7849-3P	99.47	68.17	1224
HSA-MIR-4427	99.34	70.33	1854
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-4263	99.18	69.25	2236
HSA-MIR-6769B-5P	98.73	64.91	1092
HSA-MIR-1226-3P	97.51	66.32	1063
HSA-MIR-5586-5P	96.29	68.02	685
HSA-MIR-9900	96.06	65.48	557
HSA-MIR-548AD-3P	94.39	66.04	350
HSA-MIR-4442	92.35	67.08	98

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 14.7% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 4)

• analysis of involvement of E2 enzymes in specifying polyubiquitin chain assembly (PMID:20061386)
• Endoplasmic reticulum localization and cis-enzymatic activity play a role in regulating the steady state expression of human Ube2J2, ER localization and cis-enzymatic activity play a role in regulating the steady state expression of human Ube2J2. (PMID:25083800)
• UBE2G2 was crucial for the degradation of various immunoreceptors. UBE2J2, on the other hand, counteracted US2-induced endoplasmic reticulum-associated protein degradation by downregulating TRC8 expression. (PMID:28743740)
• UBE2J2 as an important partner of MARCH6 for regulated degradation of the rate-limiting enzymes HMGCR and SQLE in cholesterol biosynthesis. (PMID:30658189)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	ube2j2	ENSDARG00000061161
mus_musculus	Ube2j2	ENSMUSG00000023286
rattus_norvegicus	Ube2j2	ENSRNOG00000019749
drosophila_melanogaster	CG5823	FBGN0038515
caenorhabditis_elegans		WBGENE00006710
caenorhabditis_elegans		WBGENE00022450

Paralogs (24): UBE2T (ENSG00000077152), UBE2A (ENSG00000077721), UBE2K (ENSG00000078140), CDC34 (ENSG00000099804), UBE2I (ENSG00000103275), UBE2W (ENSG00000104343), UBE2R2 (ENSG00000107341), UBE2S (ENSG00000108106), UBE2B (ENSG00000119048), UBE2G1 (ENSG00000132388), UBE2Z (ENSG00000159202), 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 J2 — Q8N2K1 (reviewed: Q8N2K1)

Alternative names: E2 ubiquitin-conjugating enzyme J2, Non-canonical ubiquitin-conjugating enzyme 2

All UniProt accessions (10): Q8N2K1, A6NGS0, B1AMF0, B1AMF1, D6R9H0, D6RA15, D6RB84, D6RC43, D6RD90, D6REN4

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the covalent attachment of ubiquitin to other proteins. Seems to function in the selective degradation of misfolded membrane proteins from the endoplasmic reticulum (ERAD). In cooperation with the GATOR2 complex, catalyzes ‘Lys-6’-linked ubiquitination of NPRL2.

Subcellular location. Endoplasmic reticulum membrane.

Post-translational modifications. Auto-ubiquitinated.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the ubiquitin-conjugating enzyme family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8N2K1-1	1	yes
Q8N2K1-2	2
Q8N2K1-3	3

RefSeq proteins (4): NP_477515, NP_919296, NP_919439, NP_919440 (=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 2.3.2.23 — E2 ubiquitin-conjugating enzyme (BRENDA: 20 organisms, 93 substrates, 28 inhibitors, 12 Km, 8 kcat entries)

Substrate kinetics (BRENDA)

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

Substrate	Km (mM)	Measurements
[UBIQUITIN-CARRIER-PROTEIN UBC2B]-L-CYSTEINE	0.0001	5
[UBE2W]-S-UBIQUITINYL-L-CYSTEINE	0.2203–0.3014	2
S-UBIQUITINYL-[E1 UBIQUITIN-ACTIVATING ENZYME]-L	1	1
[UBIQUITIN CARRIER PROTEIN UBC4]-L-CYSTEINE	0.0019	1

UniProt features (23 total): helix 5, strand 5, sequence conflict 3, topological domain 2, turn 2, splice variant 2, chain 1, transmembrane region 1, domain 1, active site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2F4W	X-RAY DIFFRACTION	2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N2K1-F1	85.38	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): 94 (glycyl thioester intermediate)

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-8866654	E3 ubiquitin ligases ubiquitinate target proteins
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-9609523	Insertion of tail-anchored proteins into the endoplasmic reticulum membrane

MSigDB gene sets: 124 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_PROTEIN_TARGETING, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, YY1_Q6, YY1_02, AGGAGTG_MIR483, GOBP_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MITOCHONDRION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN

GO Biological Process (7): protein polyubiquitination (GO:0000209), ubiquitin-dependent protein catabolic process (GO:0006511), response to unfolded protein (GO:0006986), ERAD pathway (GO:0036503), protein K6-linked ubiquitination (GO:0085020), obsolete positive regulation of protein targeting to mitochondrion (GO:1903955), protein ubiquitination (GO:0016567)

GO Molecular Function (6): 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 (6): ubiquitin ligase complex (GO:0000151), nucleus (GO:0005634), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), cytosol (GO:0005829), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Protein ubiquitination	1
Class I MHC mediated antigen processing & presentation	1
Protein localization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein ubiquitination	2
intracellular membrane-bounded organelle	2
cytoplasm	2
cellular anatomical structure	2
modification-dependent protein catabolic process	1
response to topologically incorrect protein	1
proteasomal protein catabolic process	1
response to endoplasmic reticulum stress	1
response to chemical	1
protein polyubiquitination	1
protein modification by small protein conjugation	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 protein-containing complex	1
transferase complex	1
endomembrane system	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1

Protein interactions and networks

STRING

1068 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UBE2J2	MARCHF6	O60337	807
UBE2J2	UBE2G2	P56554	745
UBE2J2	UBE2W	Q96B02	728
UBE2J2	TMEM129	A0AVI4	675
UBE2J2	AMFR	P26442	634
UBE2J2	ACAP3	Q96P50	624
UBE2J2	RNF139	Q8WU17	621
UBE2J2	UBE2H	P37286	619
UBE2J2	UBE2G1	P62253	616
UBE2J2	CGRRF1	Q99675	602
UBE2J2	UBE2K	P27924	591
UBE2J2	DERL2	Q9GZP9	558
UBE2J2	SEL1L	Q9UBV2	548
UBE2J2	SYVN1	Q86TM6	529
UBE2J2	UBE2V2	Q15819	521

IntAct

28 interactions, top by confidence:

A	B	Type	Score
TRIM59	UBE2J2	psi-mi:“MI:0915”(physical association)	0.560
RBP1	UBE2J2	psi-mi:“MI:0915”(physical association)	0.560
AQP6	UBE2J2	psi-mi:“MI:0915”(physical association)	0.560
ELOVL7	UBE2J2	psi-mi:“MI:0915”(physical association)	0.560
UBE2J2	TMEM14B	psi-mi:“MI:0915”(physical association)	0.560
GNB2	UBE2J2	psi-mi:“MI:0915”(physical association)	0.560
WFS1	UBE2J2	psi-mi:“MI:0915”(physical association)	0.560
UBE1	UBE2J2	psi-mi:“MI:0915”(physical association)	0.370
UBE2J2	PDE4DIP	psi-mi:“MI:0915”(physical association)	0.370
FLJ10404	UBE2J2	psi-mi:“MI:0915”(physical association)	0.370
UBE2J2	ATP13A2	psi-mi:“MI:0915”(physical association)	0.370
UBE2J2	ALOX12B	psi-mi:“MI:0914”(association)	0.350
SLC40A1	UBR5	psi-mi:“MI:0914”(association)	0.350
UBE2J2	TRIM59	psi-mi:“MI:0915”(physical association)	0.000
RBP1	UBE2J2	psi-mi:“MI:0915”(physical association)	0.000
UBE2J2	AQP6	psi-mi:“MI:0915”(physical association)	0.000
UBE2J2	ELOVL7	psi-mi:“MI:0915”(physical association)	0.000
UBE2J2	TMEM14B	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (58): UBE2J2 (Affinity Capture-Western), UBE2J2 (Reconstituted Complex), UBE2J2 (Affinity Capture-Western), UBE2J2 (Affinity Capture-RNA), EGFR (Affinity Capture-Western), UBE2J2 (Affinity Capture-RNA), UBE2J2 (Reconstituted Complex), UBE2J2 (Biochemical Activity), UBE2J2 (Biochemical Activity), UBE2J2 (Affinity Capture-Western), UBE2J2 (Reconstituted Complex), UBE2J2 (Two-hybrid), UBE2J2 (Two-hybrid), UBE2J2 (Two-hybrid), ELOVL7 (Two-hybrid)

ESM2 similar proteins: A0A1I1NU27, A4WYU7, A7ZWY8, A8GBZ7, B1J0T9, C9DGK1, G3JF08, L0E4G3, O09345, P02962, P04338, P04674, P0AAN1, P0AAN2, P0DTK3, P0DUD5, P0DX82, P45795, P50187, P50326, P50349, P52129, P55355, P55386, P55508, P55586, P55588, P55624, P71635, P96218, P9WLC4, P9WLC5, Q00681, Q02426, Q2TA03, Q47861, Q4JVS0, Q4KGL6, Q4ZUD1, Q52839

Diamond homologs: A5PKP9, D3ZDK2, O42646, O74196, O74201, P0C8G3, P0C8G4, P0C8G5, P0CS16, P0CS17, P15731, P15732, P23566, P25153, P25865, P25866, P25867, P25869, P27949, P33296, P35129, P35130, P35131, P35132, P35133, P35134, P35135, P42745, P42746, P43102, P46595, P49459, P51668, P51965, P52478, P52482, P52483, P52493, P61077, P61078

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
“Ub:E1 (UBA1 substrate)”	“up-regulates activity”	UBE2J2	ubiquitination
“Ub:E1 (UBA6 substrate)”	“up-regulates activity”	UBE2J2	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	19
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1137 predictions. Top by Δscore:

Variant	Effect	Δscore
1:1256987:CTTA:C	donor_loss	1.0000
1:1256988:TTACC:T	donor_loss	1.0000
1:1256989:TACCG:T	donor_loss	1.0000
1:1256990:A:AC	donor_gain	1.0000
1:1256990:AC:A	donor_gain	1.0000
1:1256991:C:CA	donor_gain	1.0000
1:1256991:CC:C	donor_gain	1.0000
1:1256991:CCG:C	donor_gain	1.0000
1:1256991:CCGT:C	donor_gain	1.0000
1:1256991:CCGTG:C	donor_gain	1.0000
1:1257126:ACAGC:A	acceptor_gain	1.0000
1:1257127:CAGC:C	acceptor_gain	1.0000
1:1257127:CAGCC:C	acceptor_gain	1.0000
1:1257128:AGC:A	acceptor_gain	1.0000
1:1257129:GC:G	acceptor_gain	1.0000
1:1257129:GCCT:G	acceptor_loss	1.0000
1:1257130:CC:C	acceptor_gain	1.0000
1:1257130:CCT:C	acceptor_loss	1.0000
1:1257131:C:CC	acceptor_gain	1.0000
1:1257131:C:CG	acceptor_loss	1.0000
1:1257132:T:A	acceptor_loss	1.0000
1:1256121:CTTTT:C	acceptor_gain	0.9900
1:1256126:C:CC	acceptor_gain	0.9900
1:1257112:C:CT	acceptor_gain	0.9900
1:1257112:C:T	acceptor_gain	0.9900
1:1257134:C:CT	acceptor_gain	0.9900
1:1257202:CCTTA:C	donor_loss	0.9900
1:1257203:CTTAC:C	donor_loss	0.9900
1:1257204:TTACC:T	donor_loss	0.9900
1:1257205:TA:T	donor_loss	0.9900

AlphaMissense

1704 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:1255252:G:T	A244D	1.000
1:1255261:C:T	G241E	1.000
1:1256123:T:A	K139N	1.000
1:1256123:T:G	K139N	1.000
1:1257013:A:C	S131R	1.000
1:1257013:A:T	S131R	1.000
1:1257015:T:G	S131R	1.000
1:1257017:C:A	G130V	1.000
1:1257017:C:T	G130D	1.000
1:1257018:C:G	G130R	1.000
1:1257043:G:C	F121L	1.000
1:1257043:G:T	F121L	1.000
1:1257044:A:C	F121C	1.000
1:1257044:A:G	F121S	1.000
1:1257045:A:G	F121L	1.000
1:1257046:G:C	S120R	1.000
1:1257046:G:T	S120R	1.000
1:1257047:C:A	S120I	1.000
1:1257048:T:G	S120R	1.000
1:1257050:A:G	L119P	1.000
1:1257053:A:G	L118P	1.000
1:1257056:C:T	G117E	1.000
1:1257057:C:A	G117W	1.000
1:1257057:C:G	G117R	1.000
1:1257057:C:T	G117R	1.000
1:1257062:A:G	L115P	1.000
1:1257065:A:T	I114N	1.000
1:1257074:A:T	V111D	1.000
1:1257079:C:A	W109C	1.000
1:1257079:C:G	W109C	1.000

dbSNP variants (sampled 300 via entrez): RS1000028106 (1:1268696 T>C,G), RS1000137475 (1:1273502 G>C), RS1000317772 (1:1268442 G>A,C), RS1000341930 (1:1259294 G>A,T), RS1000472349 (1:1272616 T>G), RS1000501815 (1:1254441 G>C), RS1000524309 (1:1272324 C>T), RS1000653326 (1:1267536 T>TCC), RS1000683306 (1:1258334 C>A,T), RS1000857460 (1:1264104 G>A,T), RS1001116692 (1:1272214 G>A), RS1001163190 (1:1262667 C>T), RS1001229266 (1:1254045 G>A), RS1001240546 (1:1253883 C>T), RS1001491582 (1:1258367 G>A,C)

Disease associations

OMIM: gene MIM:619756 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST004131_103	Inflammatory bowel disease	2.000000e-07
GCST004133_40	Ulcerative colitis	3.000000e-06
GCST005752_172	Systemic lupus erythematosus	9.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
butyraldehyde	decreases expression	1
2-amino-3,8-dimethylimidazo(4,5-f)quinoxaline	increases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	increases expression	1
Irinotecan	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	increases abundance, increases expression	1
Gallic Acid	decreases expression	1
Lead	affects splicing	1
Ozone	affects expression, increases abundance	1
Tetrachlorodibenzodioxin	affects expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	increases abundance, increases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	increases expression	1

Cellosaurus cell lines

4 cell lines: 3 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_2058	HCC33	Cancer cell line	Male
CVCL_B3KL	Abcam HEK293T UBE2J2 KO	Transformed cell line	Female
CVCL_TV76	HAP1 UBE2J2 (-) 1	Cancer cell line	Male
CVCL_TV77	HAP1 UBE2J2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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