UBE2Q1

Summary

UBE2Q1 (ubiquitin conjugating enzyme E2 Q1, HGNC:15698) is a protein-coding gene on chromosome 1q21.3, encoding Ubiquitin-conjugating enzyme E2 Q1 (Q7Z7E8). Catalyzes the covalent attachment of ubiquitin to other proteins. It is a selective cancer dependency (DepMap: 15.6% 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 (E1s), ubiquitin-conjugating enzymes (E2s), and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is 98% identical to the mouse counterpart.

Source: NCBI Gene 55585 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 45 total — 1 pathogenic
• Cancer dependency (DepMap): dependent in 15.6% of screened cell lines
• MANE Select transcript: NM_017582

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15698
Approved symbol	UBE2Q1
Name	ubiquitin conjugating enzyme E2 Q1
Location	1q21.3
Locus type	gene with protein product
Status	Approved
Aliases	PRO3094, NICE-5
Ensembl gene	ENSG00000160714
Ensembl biotype	protein_coding
OMIM	617429
Entrez	55585

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 6 protein_coding, 5 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000292211, ENST00000467683, ENST00000474181, ENST00000476612, ENST00000483639, ENST00000491572, ENST00000497453, ENST00000718441, ENST00000718442, ENST00000926345, ENST00000926346, ENST00000971179, ENST00000971180

RefSeq mRNA: 1 — MANE Select: NM_017582 NM_017582

CCDS: CCDS1069

Canonical transcript exons

ENST00000292211 — 13 exons

Exon	Start	End
ENSE00001333953	154558227	154558662
ENSE00004035083	154551397	154551492
ENSE00004035085	154551771	154551819
ENSE00004035087	154550938	154551004
ENSE00004035088	154555428	154555532
ENSE00004035089	154554735	154554785
ENSE00004035091	154552404	154552464
ENSE00004035092	154553032	154553172
ENSE00004035093	154552093	154552183
ENSE00004035094	154551921	154551979
ENSE00004035095	154548577	154550469
ENSE00004035096	154555860	154555964
ENSE00004035097	154552736	154552820

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 97.15.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.6038 / max 161.5269, expressed in 1790 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
14817	9.0532	1770
14816	2.0482	1203
14818	0.5023	270

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	97.15	gold quality
right testis	UBERON:0004534	97.10	gold quality
granulocyte	CL:0000094	96.92	gold quality
prefrontal cortex	UBERON:0000451	96.80	gold quality
ganglionic eminence	UBERON:0004023	96.42	gold quality
pituitary gland	UBERON:0000007	96.22	gold quality
adenohypophysis	UBERON:0002196	96.16	gold quality
body of pancreas	UBERON:0001150	96.15	gold quality
stromal cell of endometrium	CL:0002255	96.11	gold quality
lateral nuclear group of thalamus	UBERON:0002736	96.03	gold quality
metanephros cortex	UBERON:0010533	95.76	gold quality
spleen	UBERON:0002106	95.73	gold quality
substantia nigra pars compacta	UBERON:0001965	95.72	gold quality
islet of Langerhans	UBERON:0000006	95.71	gold quality
middle temporal gyrus	UBERON:0002771	95.68	gold quality
frontal cortex	UBERON:0001870	95.58	gold quality
testis	UBERON:0000473	95.55	gold quality
ventricular zone	UBERON:0003053	95.54	gold quality
parotid gland	UBERON:0001831	95.52	gold quality
calcaneal tendon	UBERON:0003701	95.52	gold quality
right lobe of thyroid gland	UBERON:0001119	95.51	gold quality
substantia nigra pars reticulata	UBERON:0001966	95.49	gold quality
small intestine Peyer’s patch	UBERON:0003454	95.48	gold quality
left lobe of thyroid gland	UBERON:0001120	95.41	gold quality
body of stomach	UBERON:0001161	95.41	gold quality
pancreas	UBERON:0001264	95.28	gold quality
neocortex	UBERON:0001950	95.23	gold quality
cerebellar cortex	UBERON:0002129	95.23	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.23	gold quality
cerebellar hemisphere	UBERON:0002245	95.22	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-13	yes	9.46
E-ANND-3	yes	8.82

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

141 targeting UBE2Q1, 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-12118	100.00	65.88	1270
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-23A-5P	99.94	65.39	468

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 15.6% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 12)

• we found somatic mutations of HERC2, HERC3, TRIP12, UBE2Q1 and UBE4B genes in gastric carcinoma and colorectal carcinomas with microsatellite instability (PMID:22124266)
• This result along with the real-time PCR data shows that the novel human gene, UBE2Q1, is expressed in human breast and may have implications for pathogenesis of breast cancer. (PMID:22167327)
• UBE2Q1 is differentially expressed in colorectal cell lines and shows overexpression in colorectal tumors. (PMID:24197692)
• These data imply that UBE2Q1 is upregulated in liver cancer cell lines and tumorous samples and may play a role in the development of HCC. (PMID:25311764)
• overexpression of UBE2Q1 is associated with Breast Carcinoma. (PMID:25987028)
• UBE2Q1 hypermethylation is associated with Colorectal Cancer. (PMID:26745068)
• hypomethylation of the UBE2Q1 gene promoter is a potential biomarker for detecting hepatitis B virus-associated hepatocellular carcinoma. (PMID:28592717)
• UBE2Q1 is a candidate oncogene involved in HCC development. (PMID:29027712)
• miR-338-3p inhibits autophagy in a rat model of allergic rhinitis after PM2.5 exposure through AKT/mTOR signaling by targeting UBE2Q1. (PMID:33770685)
• Aberrant methylation of UBE2Q1 promoter is associated with poor prognosis of acute-on-chronic hepatitis B pre-liver failure. (PMID:34032735)
• Structural and Functional Characterization of Legionella pneumophila Effector MavL. (PMID:34944446)
• Analysis of the Interaction of UBE2Q1 with B4GALT1 and P53: Experimental and Molecular Modeling Study. (PMID:37198983)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ube2q1	ENSMUSG00000042572
rattus_norvegicus	Ube2q1	ENSRNOG00000020791

Paralogs (12): UBE2D1 (ENSG00000072401), UBE2D4 (ENSG00000078967), UBE2D3 (ENSG00000109332), UBE2D2 (ENSG00000131508), UBE2Q2 (ENSG00000140367), UBE2L6 (ENSG00000156587), UBE2E3 (ENSG00000170035), UBE2E1 (ENSG00000170142), UBE2E2 (ENSG00000182247), UBE2L3 (ENSG00000185651), UBE2QL1 (ENSG00000215218), UBE2L5 (ENSG00000236444)

Protein

Protein identifiers

Ubiquitin-conjugating enzyme E2 Q1 — Q7Z7E8 (reviewed: Q7Z7E8)

Alternative names: E2 ubiquitin-conjugating enzyme Q1, Protein NICE-5, Ubiquitin carrier protein Q1, Ubiquitin-protein ligase Q1

All UniProt accessions (1): Q7Z7E8

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the covalent attachment of ubiquitin to other proteins. May be involved in hormonal homeostasis in females. Involved in regulation of B4GALT1 cell surface expression, B4GALT1-mediated cell adhesion to laminin and embryoid body formation.

Subunit / interactions. Monomer and homodimer. Only the homodimer is linked to ubiquitin through thiolester activation. Interacts (via N-terminus) with B4GALT1 (via N-terminal cytoplasmic domain). The interaction is direct.

Subcellular location. Nucleus. Cell projection. Filopodium. Cytoplasm. Cytosol.

Tissue specificity. Widely expressed.

Post-translational modifications. Autoubiquitinated in vitro in the presence of NEDD4L.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the ubiquitin-conjugating enzyme family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q7Z7E8-1	1	yes
Q7Z7E8-2	2

RefSeq proteins (1): NP_060052* (*=MANE)

Domains & families (InterPro)

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

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 (28 total): helix 7, strand 7, compositionally biased region 4, turn 2, region of interest 2, chain 1, domain 1, splice variant 1, sequence conflict 1, active site 1, modified residue 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2QGX	X-RAY DIFFRACTION	2.56

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z7E8-F1	79.49	0.48

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): 351 (glycyl thioester intermediate)

Post-translational modifications (1): 1

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 167 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_UP, GOBP_BEHAVIOR, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_SUCKLING_BEHAVIOR, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, CACCAGC_MIR138, GOBP_CELL_CELL_SIGNALING, PATIL_LIVER_CANCER, GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT, GOBP_REPRODUCTIVE_BEHAVIOR

GO Biological Process (8): protein polyubiquitination (GO:0000209), suckling behavior (GO:0001967), embryo implantation (GO:0007566), mating behavior (GO:0007617), fertilization (GO:0009566), reproductive system development (GO:0061458), prolactin secretion (GO:0070459), protein ubiquitination (GO:0016567)

GO Molecular Function (6): ATP binding (GO:0005524), ubiquitin conjugating enzyme activity (GO:0061631), nucleotide binding (GO:0000166), ubiquitin-protein transferase activity (GO:0004842), protein binding (GO:0005515), transferase activity (GO:0016740)

GO Cellular Component (5): nucleus (GO:0005634), cytosol (GO:0005829), filopodium (GO:0030175), cytoplasm (GO:0005737), cell projection (GO:0042995)

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
cellular anatomical structure	3
reproductive process	2
protein ubiquitination	1
feeding behavior	1
multicellular organism development	1
female pregnancy	1
reproductive behavior	1
sexual reproduction	1
system development	1
protein secretion	1
peptide hormone secretion	1
protein modification by small protein conjugation	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
ubiquitin-like protein transferase activity	1
binding	1
catalytic activity	1
intracellular membrane-bounded organelle	1
cytoplasm	1
actin-based cell projection	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

767 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UBE2Q1	UBE2Z	Q9H832	702
UBE2Q1	UBE2J1	Q9Y385	696
UBE2Q1	UBE2G2	P56554	654
UBE2Q1	UBE4B	O95155	549
UBE2Q1	UBE2W	Q96B02	507
UBE2Q1	UBE2R2	Q712K3	497
UBE2Q1	UBE2J2	Q8N2K1	494
UBE2Q1	UBE2A	P49459	491
UBE2Q1	UBE2E1	P51965	487
UBE2Q1	UBE2G1	P62253	487
UBE2Q1	UBE2K	P27924	477
UBE2Q1	UBE2D1	P51668	475
UBE2Q1	UBE2S	Q16763	449
UBE2Q1	UBE2T	Q9NPD8	447
UBE2Q1	UBE2B	P23567	446

IntAct

46 interactions, top by confidence:

A	B	Type	Score
STUB1	UBE2Q1	psi-mi:“MI:0915”(physical association)	0.580
UBE2Q1	STUB1	psi-mi:“MI:0915”(physical association)	0.580
C3AR1	TMEM120B	psi-mi:“MI:0914”(association)	0.530
ERP44	MEX3A	psi-mi:“MI:0914”(association)	0.530
HTR2C	KLRG2	psi-mi:“MI:0914”(association)	0.530
TCEAL1	CHEK1	psi-mi:“MI:0914”(association)	0.530
GPR161	USP12	psi-mi:“MI:0914”(association)	0.530
MFSD11	UBE2Q1	psi-mi:“MI:0914”(association)	0.530
UBE2Q1		psi-mi:“MI:0915”(physical association)	0.510
	UBE2Q1	psi-mi:“MI:0915”(physical association)	0.510
IRF2BPL	UBE2Q1	psi-mi:“MI:0915”(physical association)	0.370
UBE2Q1	RNF26	psi-mi:“MI:0915”(physical association)	0.370
EXOSC7	UBE2Q1	psi-mi:“MI:0915”(physical association)	0.370
UBE2Q1	RNF7	psi-mi:“MI:0915”(physical association)	0.370
USP11	CNOT8	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
LYPD3	CLASP2	psi-mi:“MI:0914”(association)	0.350
C1QTNF2	GNPAT	psi-mi:“MI:0914”(association)	0.350
SRPRB	GOSR1	psi-mi:“MI:0914”(association)	0.350
GPR17	TMEM120B	psi-mi:“MI:0914”(association)	0.350
HCST	TMEM120B	psi-mi:“MI:0914”(association)	0.350
SYT2	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
S100A2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MAGEA9	CIBAR1	psi-mi:“MI:0914”(association)	0.350

BioGRID (92): UBE2Q1 (Reconstituted Complex), STUB1 (Protein-peptide), UBE2Q1 (Two-hybrid), UBE2Q1 (Affinity Capture-MS), UBE2Q1 (Affinity Capture-MS), UBE2Q1 (Affinity Capture-MS), TP53 (Affinity Capture-Western), UBE2Q1 (Affinity Capture-Western), UBE2Q1 (Reconstituted Complex), UBE2Q1 (Affinity Capture-MS), UBE2Q1 (Affinity Capture-MS), UBE2Q1 (Affinity Capture-MS), UBE2Q1 (Affinity Capture-MS), UBE2Q1 (Affinity Capture-MS), UBE2Q1 (Affinity Capture-MS)

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: A0PJN4, A1L167, P52492, Q32L27, Q5UQ88, Q7TSS2, Q7YQJ9, Q7Z7E8, Q86IZ3, Q8K2Z8, Q8WVN8, Q93571, Q9VM35

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
“Ub:E1 (UBA1 substrate)”	“up-regulates activity”	UBE2Q1	ubiquitination
“Ub:E1 (UBA6 substrate)”	“up-regulates activity”	UBE2Q1	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	24
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1459168	NC_000001.10:g.(?154422067)(154580482_?)del	Pathogenic

SpliceAI

1847 predictions. Top by Δscore:

Variant	Effect	Δscore
1:154550465:CCAGC:C	acceptor_gain	1.0000
1:154550466:CAGC:C	acceptor_gain	1.0000
1:154550466:CAGCC:C	acceptor_gain	1.0000
1:154550470:C:CC	acceptor_gain	1.0000
1:154550471:T:A	acceptor_loss	1.0000
1:154551005:C:CC	acceptor_gain	1.0000
1:154551395:A:AC	donor_gain	1.0000
1:154551396:C:CC	donor_gain	1.0000
1:154551815:CATAC:C	acceptor_gain	1.0000
1:154552091:A:AC	donor_gain	1.0000
1:154552092:C:CC	donor_gain	1.0000
1:154552179:CAACT:C	acceptor_gain	1.0000
1:154552182:CT:C	acceptor_gain	1.0000
1:154552184:C:CC	acceptor_gain	1.0000
1:154552401:CACTT:C	donor_loss	1.0000
1:154552402:A:AC	donor_gain	1.0000
1:154552402:AC:A	donor_loss	1.0000
1:154552403:C:CA	donor_gain	1.0000
1:154552460:GTTTC:G	acceptor_gain	1.0000
1:154552461:TTTC:T	acceptor_gain	1.0000
1:154552462:TTC:T	acceptor_gain	1.0000
1:154552462:TTCC:T	acceptor_loss	1.0000
1:154552463:TC:T	acceptor_gain	1.0000
1:154552463:TCC:T	acceptor_loss	1.0000
1:154552464:CC:C	acceptor_gain	1.0000
1:154552464:CCTG:C	acceptor_loss	1.0000
1:154552465:C:CC	acceptor_gain	1.0000
1:154553027:CGTA:C	donor_loss	1.0000
1:154553028:GTACA:G	donor_loss	1.0000
1:154553029:TA:T	donor_loss	1.0000

AlphaMissense

2761 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:154550442:C:T	G422D	1.000
1:154550443:C:A	G422C	1.000
1:154550443:C:G	G422R	1.000
1:154550457:G:T	P417H	1.000
1:154550465:C:A	W414C	1.000
1:154550465:C:G	W414C	1.000
1:154550466:C:A	W414L	1.000
1:154550466:C:G	W414S	1.000
1:154550467:A:G	W414R	1.000
1:154550467:A:T	W414R	1.000
1:154550469:C:A	G413V	1.000
1:154550469:C:T	G413D	1.000
1:154550938:C:A	G413C	1.000
1:154550938:C:G	G413R	1.000
1:154550948:G:C	H409Q	1.000
1:154550948:G:T	H409Q	1.000
1:154550949:T:A	H409L	1.000
1:154550949:T:C	H409R	1.000
1:154550949:T:G	H409P	1.000
1:154550950:G:A	H409Y	1.000
1:154550950:G:C	H409D	1.000
1:154550950:G:T	H409N	1.000
1:154550952:A:C	I408S	1.000
1:154550952:A:T	I408N	1.000
1:154550961:A:C	L405W	1.000
1:154550961:A:G	L405S	1.000
1:154550971:A:C	Y402D	1.000
1:154550974:A:G	S401P	1.000
1:154550983:C:G	A398P	1.000
1:154550997:T:C	Y393C	1.000

dbSNP variants (sampled 300 via entrez): RS1000179281 (1:154549250 C>T), RS1000221447 (1:154554348 A>G), RS1000334487 (1:154556173 C>A), RS1000388163 (1:154556536 C>T), RS1000608682 (1:154552843 A>G), RS1000614768 (1:154549614 A>G), RS1000724698 (1:154554978 C>A,T), RS1001116933 (1:154558841 T>C,G), RS1001223522 (1:154557215 A>C), RS1001396403 (1:154550763 A>G), RS1001460027 (1:154552538 C>T), RS1001602544 (1:154550456 G>A,C,T), RS1002070348 (1:154548408 A>G), RS1002202525 (1:154557363 A>G), RS1002340227 (1:154548859 G>A)

Disease associations

OMIM: gene MIM:617429 | disease phenotypes: MIM:127400, MIM:615010

GenCC curated gene-disease

Mondo (2): dyschromatosis symmetrica hereditaria (MONDO:0007483), Aicardi-Goutieres syndrome 6 (MONDO:0014007)

Orphanet (2): Dyschromatosis symmetrica hereditaria (Orphanet:41), Aicardi-Goutières syndrome (Orphanet:51)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002665_2	Cerebrospinal fluid levels of Alzheimer’s disease-related proteins	6.000000e-63

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004810	interleukin-6 measurement
EFO:0006514	Alzheimer’s disease biomarker measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C535729	Dyschromatosis symmetrica hereditaria 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	increases expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression, increases methylation	1
trichostatin A	affects expression	1
sodium arsenite	increases expression, increases abundance	1
perfluorooctanoic acid	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
K 7174	increases expression	1
perfluorohexanesulfonic acid	decreases expression	1
ICG 001	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Venlafaxine Hydrochloride	decreases expression	1
Air Pollutants	increases abundance, decreases expression	1
Arsenic	increases abundance, increases expression	1
Atrazine	decreases expression	1
Benzene	increases expression	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Smoke	increases abundance, decreases expression	1
Tretinoin	increases expression	1
Tunicamycin	decreases expression	1
Valproic Acid	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_TV84	HAP1 UBE2Q1 (-) 1	Cancer cell line	Male
CVCL_TV85	HAP1 UBE2Q1 (-) 2	Cancer cell line	Male
CVCL_TV86	HAP1 UBE2Q1 (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06309407	Not specified	COMPLETED	Dosimeter Location in Pain Physicians