UBE2J1

Summary

UBE2J1 (ubiquitin conjugating enzyme E2 J1, HGNC:17598) is a protein-coding gene on chromosome 6q15, encoding Ubiquitin-conjugating enzyme E2 J1 (Q9Y385). Catalyzes the covalent attachment of ubiquitin 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. This enzyme is located in the membrane of the endoplasmic reticulum (ER) and may contribute to quality control ER-associated degradation by the ubiquitin-proteasome system.

Source: NCBI Gene 51465 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 54 total
• MANE Select transcript: NM_016021

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17598
Approved symbol	UBE2J1
Name	ubiquitin conjugating enzyme E2 J1
Location	6q15
Locus type	gene with protein product
Status	Approved
Aliases	HSPC153, CGI-76, NCUBE1, UBC6
Ensembl gene	ENSG00000198833
Ensembl biotype	protein_coding
OMIM	616175
Entrez	51465

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000435041, ENST00000878541, ENST00000941619

RefSeq mRNA: 1 — MANE Select: NM_016021 NM_016021

CCDS: CCDS5021

Canonical transcript exons

ENST00000435041 — 8 exons

Exon	Start	End
ENSE00000760420	89333086	89333205
ENSE00000760421	89335302	89335431
ENSE00000760422	89338205	89338310
ENSE00000760424	89342324	89342455
ENSE00001252630	89352539	89352722
ENSE00001316886	89338459	89338543
ENSE00001694739	89326625	89329957
ENSE00002439300	89343683	89343756

Expression profiles

Bgee: expression breadth ubiquitous, 286 present calls, max score 97.90.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 71.9340 / max 1163.0441, expressed in 1821 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
74689	44.6348	1810
74693	10.7292	1791
74691	7.2670	1749
74690	4.1144	1668
74692	3.8641	1569
204098	0.6421	384
74694	0.4702	170
204099	0.2123	51

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	97.90	gold quality
monocyte	CL:0000576	96.91	gold quality
mononuclear cell	CL:0000842	96.85	gold quality
bone marrow cell	CL:0002092	96.71	gold quality
leukocyte	CL:0000738	96.50	gold quality
parotid gland	UBERON:0001831	95.77	gold quality
bone marrow	UBERON:0002371	95.77	gold quality
rectum	UBERON:0001052	95.62	gold quality
epithelium of nasopharynx	UBERON:0001951	95.60	gold quality
male germ cell	CL:0000015	95.46	gold quality
amniotic fluid	UBERON:0000173	95.41	gold quality
tonsil	UBERON:0002372	95.27	gold quality
vermiform appendix	UBERON:0001154	95.17	gold quality
lymph node	UBERON:0000029	95.08	gold quality
mucosa of sigmoid colon	UBERON:0004993	94.94	gold quality
islet of Langerhans	UBERON:0000006	94.58	gold quality
colonic epithelium	UBERON:0000397	94.58	gold quality
palpebral conjunctiva	UBERON:0001812	94.50	gold quality
cartilage tissue	UBERON:0002418	94.50	gold quality
caecum	UBERON:0001153	94.41	gold quality
esophagus squamous epithelium	UBERON:0006920	94.28	gold quality
jejunal mucosa	UBERON:0000399	94.08	gold quality
duodenum	UBERON:0002114	94.06	gold quality
colonic mucosa	UBERON:0000317	93.72	gold quality
pylorus	UBERON:0001166	93.71	gold quality
endothelial cell	CL:0000115	93.23	gold quality
visceral pleura	UBERON:0002401	93.09	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.03	gold quality
pancreas	UBERON:0001264	92.98	gold quality
ileal mucosa	UBERON:0000331	92.94	gold quality

Single-cell (SCXA)

Detected in 17 experiment(s), a significant marker in 15.

Experiment	Marker?	Max mean expression
E-CURD-77	yes	838.79
E-CURD-88	yes	506.39
E-MTAB-9467	yes	64.94
E-CURD-46	yes	62.47
E-HCAD-1	yes	61.91
E-MTAB-8410	yes	58.65
E-HCAD-4	yes	53.96
E-CURD-122	yes	48.51
E-HCAD-11	yes	23.95
E-HCAD-9	yes	20.95
E-MTAB-9543	yes	20.02
E-CURD-112	yes	12.40
E-MTAB-10553	yes	12.05
E-MTAB-6678	yes	4.38
E-MTAB-6142	no	289.96

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

170 targeting UBE2J1, 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-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-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-497-5P	99.92	71.83	2674

Literature-anchored findings (GeneRIF, showing 7)

• Ubc6e is phosphorylated in response to endoplasmic reticulum stress (PMID:16720581)
• data support a physiological role for HRD1 and UBE2J1 in the homeostatic regulation of MHC class I assembly and expression (PMID:21245296)
• Post-transcriptional regulation of glycoprotein quality control in the endoplasmic reticulum is controlled by the UBC6e. (PMID:27570074)
• These results suggest that UBE2 family member UBE2J1 can negatively regulate type I IFN expression, thereby promote RNA virus infection. (PMID:30157886)
• Zfx-induced upregulation of UBE2J1 facilitates endometrial cancer progression via PI3K/AKT pathway. (PMID:33632059)
• UBE2J1 inhibits colorectal cancer progression by promoting ubiquitination and degradation of RPS3. (PMID:36567344)
• UBE2J1 is the E2 ubiquitin-conjugating enzyme regulating androgen receptor degradation and antiandrogen resistance. (PMID:38030789)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ube2j1	ENSDARG00000033489
mus_musculus	Ube2j1	ENSMUSG00000028277
rattus_norvegicus	Ube2j1	ENSRNOG00000007434
caenorhabditis_elegans		WBGENE00006703

Paralogs (24): UBE2T (ENSG00000077152), UBE2A (ENSG00000077721), UBE2K (ENSG00000078140), CDC34 (ENSG00000099804), UBE2I (ENSG00000103275), UBE2W (ENSG00000104343), 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), PEDS1 (ENSG00000240849), UBE2V1 (ENSG00000244687), UBE2NL (ENSG00000276380)

Protein

Protein identifiers

Ubiquitin-conjugating enzyme E2 J1 — Q9Y385 (reviewed: Q9Y385)

Alternative names: E2 ubiquitin-conjugating enzyme J1, Non-canonical ubiquitin-conjugating enzyme 1, Yeast ubiquitin-conjugating enzyme UBC6 homolog E

All UniProt accessions (1): Q9Y385

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the covalent attachment of ubiquitin to other proteins. Functions in the selective degradation of misfolded membrane proteins from the endoplasmic reticulum (ERAD) and is essential for cells to recover from ER stress. Plays a role in MAPKAPK2-dependent translational control of TNF synthesis. Also acts as a platform for perinuclear positioning of the endosomal system by mediating ubiquitination of SQSTM1 through interaction with the E3 ubiquitin-protein ligase RNF26. Plays a role in male fecundity through the interaction with the E3 ubiquitin-protein ligase RNF133. (Microbial infection) Promotes Dengue virus RNA replication by negatively regulating IFN-beta signaling and mediating ‘Lys-48’-linked ubiquitination on IRF3.

Subunit / interactions. Component of the HRD1 complex, which comprises at least SYNV1/HRD1, DERL1/2, FAM8A1, HERPUD1/HERP, OS9, SEL1L and UBE2J1. Interacts with E3 ligase RNF26. Interacts with E3 ligase RNF133.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Expressed in testes.

Post-translational modifications. Phosphorylated at Ser-184 in a cytosolic stress-dependent manner by MAP kinase p38 MAPKAPK2. Phosphorylated UBE2J1 is rapidly ubiquitinated and subsequently degraded by the proteasome.

Induction. By Dengue virus infection.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the ubiquitin-conjugating enzyme family.

RefSeq proteins (1): NP_057105* (*=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 (18 total): modified residue 3, topological domain 2, sequence variant 2, mutagenesis site 2, sequence conflict 2, compositionally biased region 2, chain 1, transmembrane region 1, domain 1, region of interest 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y385-F1	77.56	0.49

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 (3): 266, 268, 184

Mutagenesis-validated functional residues (2):

Position	Phenotype
91	loss of catalytic activity. slows down degradation of misfolded proteins from the er.
184	complete loss of stress-dependent phosphorylation. loss of cell recovery for er stress.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 291 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, chr6q15, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GOBP_ENDOPLASMIC_RETICULUM_TO_CYTOSOL_TRANSPORT, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, YANG_BREAST_CANCER_ESR1_LASER_DN

GO Biological Process (8): protein polyubiquitination (GO:0000209), spermatid development (GO:0007286), regulation of macrophage cytokine production (GO:0010935), obsolete protein N-linked glycosylation via asparagine (GO:0018279), regulation of tumor necrosis factor production (GO:0032680), ERAD pathway (GO:0036503), negative regulation of retrograde protein transport, ER to cytosol (GO:1904153), 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 (5): Hrd1p ubiquitin ligase complex (GO:0000836), nucleus (GO:0005634), endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

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
intracellular membrane-bounded organelle	2
protein ubiquitination	1
germ cell development	1
spermatid differentiation	1
regulation of cytokine production involved in immune response	1
macrophage cytokine production	1
tumor necrosis factor production	1
regulation of tumor necrosis factor superfamily cytokine production	1
proteasomal protein catabolic process	1
response to endoplasmic reticulum stress	1
response to chemical	1
retrograde protein transport, ER to cytosol	1
negative regulation of protein exit from endoplasmic reticulum	1
regulation of retrograde protein transport, ER to cytosol	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
ER ubiquitin ligase complex	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cytoplasm	1
endomembrane system	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2102 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UBE2J1	RNF5	Q99942	988
UBE2J1	SEL1L	Q9UBV2	977
UBE2J1	DERL2	Q9GZP9	947
UBE2J1	OS9	Q13438	942
UBE2J1	FAF2	Q96CS3	929
UBE2J1	SYVN1	Q86TM6	905
UBE2J1	AUP1	Q9Y679	902
UBE2J1	VCP	P55072	866
UBE2J1	DERL1	Q9BUN8	829
UBE2J1	CANX	P27824	800
UBE2J1	ERLEC1	Q96DZ1	792
UBE2J1	HSPA5	P11021	769
UBE2J1	P4HB	P07237	745
UBE2J1	MARCHF6	O60337	742
UBE2J1	NPLOC4	Q8TAT6	741

IntAct

215 interactions, top by confidence:

A	B	Type	Score
SEL1L	OS9	psi-mi:“MI:0914”(association)	0.860
SYVN1	SEL1L	psi-mi:“MI:0914”(association)	0.770
SEL1L	SYVN1	psi-mi:“MI:0914”(association)	0.770
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
UBE2J1	SYVN1	psi-mi:“MI:0915”(physical association)	0.700
SYVN1	OS9	psi-mi:“MI:0914”(association)	0.690
CHST8	CANX	psi-mi:“MI:0914”(association)	0.640
GXYLT1	CANX	psi-mi:“MI:0914”(association)	0.640
KLK5	DENND11	psi-mi:“MI:0914”(association)	0.640
UBE2J1	NME2P1	psi-mi:“MI:0915”(physical association)	0.590
INSR	PIK3R2	psi-mi:“MI:2364”(proximity)	0.570
UBE2J1	SLC39A2	psi-mi:“MI:0915”(physical association)	0.560
UBE2J1	ZDHHC15	psi-mi:“MI:0915”(physical association)	0.560
UBE2J1	ERGIC3	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (294): UBE2J1 (Affinity Capture-MS), UBE2J1 (Affinity Capture-MS), UBE2J1 (Affinity Capture-MS), UBE2J1 (Affinity Capture-Western), UBE2J1 (Affinity Capture-Western), UBE2J1 (Affinity Capture-Western), NME2P1 (Affinity Capture-MS), GHITM (Affinity Capture-MS), UBE2J1 (Proximity Label-MS), UBE2J1 (Proximity Label-MS), UBE2J1 (Proximity Label-MS), UBE2J1 (Proximity Label-MS), UBE2J1 (Proximity Label-MS), UBE2J1 (Two-hybrid), UBE2J1 (Affinity Capture-Western)

ESM2 similar proteins: A0A084API4, A0A179H324, A0A1U9YI11, A0A348AXY2, A2QNQ8, A2RVS4, A4RHU9, A4RKF7, A5DQN2, A6YRN9, A7T395, A8PWG8, B2KWI2, B2WM34, B8MJJ8, B8MKY9, D1ZRF1, D4AVK1, D4DDJ7, E4UPA0, E9R9Y3, F9X9V2, G3GBU6, J4VSL0, M1W855, O13767, O75003, P32656, P54121, P9WEK3, Q12415, Q2U0C4, Q2U6Q1, Q2UPC2, Q4PEN1, Q4WCV5, Q4WED9, Q4WF55, Q4WJX7, Q4X0W8

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

7 interactions.

A	Effect	B	Mechanism
MAPKAPK2	“down-regulates quantity by destabilization”	UBE2J1	phosphorylation
BIRC2	“down-regulates quantity by destabilization”	UBE2J1	ubiquitination
UBE2J1	“down-regulates quantity by destabilization”	DIO2	ubiquitination
UBE2J1	“down-regulates quantity by destabilization”	DIO	ubiquitination
“Ub:E1 (UBA1 substrate)”	“up-regulates activity”	UBE2J1	ubiquitination
“Ub:E1 (UBA6 substrate)”	“up-regulates activity”	UBE2J1	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 127 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
Defective CFTR causes cystic fibrosis	7	17.9×	6e-05
Signaling by SCF-KIT	5	14.4×	8e-04
Hh mutants are degraded by ERAD	5	14.1×	9e-04
AMPK-induced ERAD and lysosome mediated degradation of PD-L1(CD274)	6	13.5×	4e-04
Hedgehog ligand biogenesis	5	12.3×	1e-03
ABC-family protein mediated transport	7	9.9×	4e-04
Metabolism of carbohydrates and carbohydrate derivatives	5	7.0×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
retrograde protein transport, ER to cytosol	6	53.6×	3e-07
ERAD pathway	11	18.0×	2e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	35
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

878 predictions. Top by Δscore:

Variant	Effect	Δscore
6:89329958:C:CC	acceptor_gain	1.0000
6:89335296:TAGTA:T	donor_loss	1.0000
6:89335299:TACC:T	donor_loss	1.0000
6:89335300:A:T	donor_loss	1.0000
6:89335312:ATTTG:A	donor_gain	1.0000
6:89335316:G:A	donor_gain	1.0000
6:89335321:G:C	donor_gain	1.0000
6:89335432:C:CC	acceptor_gain	1.0000
6:89335433:T:A	acceptor_loss	1.0000
6:89335435:G:C	acceptor_gain	1.0000
6:89335435:G:GC	acceptor_gain	1.0000
6:89338198:AACTT:A	donor_loss	1.0000
6:89338199:ACTTA:A	donor_loss	1.0000
6:89338200:CTTAC:C	donor_loss	1.0000
6:89338201:TT:T	donor_loss	1.0000
6:89338202:TA:T	donor_loss	1.0000
6:89338203:A:AC	donor_gain	1.0000
6:89338203:ACT:A	donor_loss	1.0000
6:89338204:C:A	donor_loss	1.0000
6:89338204:C:CC	donor_gain	1.0000
6:89338204:CT:C	donor_gain	1.0000
6:89338204:CTT:C	donor_gain	1.0000
6:89338204:CTTT:C	donor_gain	1.0000
6:89338307:CTTA:C	acceptor_gain	1.0000
6:89338457:A:AC	donor_gain	1.0000
6:89338458:C:CC	donor_gain	1.0000
6:89338458:CT:C	donor_gain	1.0000
6:89338458:CTA:C	donor_gain	1.0000
6:89338458:CTACT:C	donor_gain	1.0000
6:89338539:TTAGC:T	acceptor_gain	1.0000

AlphaMissense

2065 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:89335415:A:G	C149R	1.000
6:89338211:G:T	A141D	1.000
6:89338214:A:G	L140P	1.000
6:89338222:T:A	R137S	1.000
6:89338222:T:G	R137S	1.000
6:89338223:C:G	R137T	1.000
6:89338244:A:G	L130P	1.000
6:89338248:A:G	S129P	1.000
6:89338250:C:T	G128D	1.000
6:89338251:C:G	G128R	1.000
6:89338256:G:T	A126D	1.000
6:89338279:A:C	F118L	1.000
6:89338279:A:T	F118L	1.000
6:89338280:A:C	F118C	1.000
6:89338280:A:G	F118S	1.000
6:89338281:A:C	F118V	1.000
6:89338281:A:G	F118L	1.000
6:89338283:C:T	G117E	1.000
6:89338284:C:A	G117W	1.000
6:89338284:C:G	G117R	1.000
6:89338284:C:T	G117R	1.000
6:89338289:A:T	I115N	1.000
6:89338292:G:T	A114D	1.000
6:89338293:C:G	A114P	1.000
6:89338298:A:G	L112S	1.000
6:89338301:G:T	A111E	1.000
6:89338302:C:G	A111P	1.000
6:89338306:C:A	R109S	1.000
6:89338306:C:G	R109S	1.000
6:89338307:C:A	R109M	1.000

dbSNP variants (sampled 300 via entrez): RS1000156728 (6:89335155 A>G), RS1000196542 (6:89344966 G>A), RS1000354521 (6:89338800 G>C), RS1000363611 (6:89348085 T>C), RS1000370911 (6:89340931 G>A), RS1000431328 (6:89354564 C>A,T), RS1000474662 (6:89327330 C>T), RS1000528998 (6:89343420 G>A), RS1000856437 (6:89335918 C>T), RS1000973029 (6:89342549 T>A,C), RS1001010336 (6:89329059 T>A), RS1001076951 (6:89336268 C>G), RS1001266768 (6:89347304 A>G,T), RS1001426797 (6:89340518 A>G), RS1001427494 (6:89340213 T>G)

Disease associations

OMIM: gene MIM:616175 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	4
Valproic Acid	affects expression, decreases expression, increases expression	3
trichostatin A	affects cotreatment, decreases expression	2
sodium arsenite	increases expression	2
entinostat	decreases expression, affects cotreatment	2
Tretinoin	increases expression	2
Tunicamycin	increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
FR900359	increases phosphorylation	1
bisphenol A	affects expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
coumarin	increases phosphorylation	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	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
dorsomorphin	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Atrazine	decreases expression	1
Carbamazepine	affects expression	1
Coumestrol	affects cotreatment, decreases expression	1
Demecolcine	decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Diethylstilbestrol	decreases expression	1
Ethyl Methanesulfonate	decreases expression	1
Folic Acid	increases expression	1
Formaldehyde	decreases 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_B2K6	Abcam HeLa UBE2J1 KO	Cancer cell line	Female
CVCL_D9V9	Ubigene HEK293 UBE2J1 KO	Transformed cell line	Female
CVCL_TV74	HAP1 UBE2J1 (-) 1	Cancer cell line	Male
CVCL_TV75	HAP1 UBE2J1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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