UBE2Z

Summary

UBE2Z (ubiquitin conjugating enzyme E2 Z, HGNC:25847) is a protein-coding gene on chromosome 17q21.32, encoding Ubiquitin-conjugating enzyme E2 Z (Q9H832). Catalyzes the covalent attachment of ubiquitin to other proteins. It is a selective cancer dependency (DepMap: 42.8% of cell lines).

This gene encodes an enzyme which ubiquitinates proteins which participate in signaling pathways and apoptosis.

Source: NCBI Gene 65264 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 56 total
• Cancer dependency (DepMap): dependent in 42.8% of screened cell lines
• MANE Select transcript: NM_023079

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25847
Approved symbol	UBE2Z
Name	ubiquitin conjugating enzyme E2 Z
Location	17q21.32
Locus type	gene with protein product
Status	Approved
Aliases	FLJ13855, USE1
Ensembl gene	ENSG00000159202
Ensembl biotype	protein_coding
OMIM	611362
Entrez	65264

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 8 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron

ENST00000360943, ENST00000504684, ENST00000506271, ENST00000506498, ENST00000508468, ENST00000511373, ENST00000513342, ENST00000514948, ENST00000882294, ENST00000925655, ENST00000925656, ENST00000971025

RefSeq mRNA: 1 — MANE Select: NM_023079 NM_023079

CCDS: CCDS11540

Canonical transcript exons

ENST00000360943 — 7 exons

Exon	Start	End
ENSE00001941444	48908407	48908820
ENSE00002039756	48926964	48929056
ENSE00002268930	48910808	48910880
ENSE00002523559	48912834	48913021
ENSE00003626798	48922847	48922937
ENSE00003673850	48916076	48916187
ENSE00003787815	48921160	48921272

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 96.53.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 75.7192 / max 786.2504, expressed in 1826 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
161475	30.6379	1821
161477	30.3951	1818
161478	5.1071	1594
161488	3.6026	382
161474	2.0199	1318
161476	1.5492	1168
161479	1.0006	268
161489	0.4698	158
161487	0.4055	99
161484	0.2218	84

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
islet of Langerhans	UBERON:0000006	96.53	gold quality
stromal cell of endometrium	CL:0002255	96.49	gold quality
cartilage tissue	UBERON:0002418	96.23	gold quality
corpus epididymis	UBERON:0004359	95.67	gold quality
ileal mucosa	UBERON:0000331	95.45	gold quality
smooth muscle tissue	UBERON:0001135	95.43	gold quality
type B pancreatic cell	CL:0000169	95.15	gold quality
granulocyte	CL:0000094	95.13	gold quality
nipple	UBERON:0002030	94.89	gold quality
lymph node	UBERON:0000029	94.87	gold quality
cortical plate	UBERON:0005343	94.68	gold quality
right adrenal gland	UBERON:0001233	94.44	gold quality
cauda epididymis	UBERON:0004360	94.38	gold quality
right adrenal gland cortex	UBERON:0035827	94.37	gold quality
lower esophagus mucosa	UBERON:0035834	94.34	gold quality
endocervix	UBERON:0000458	94.21	gold quality
right lobe of thyroid gland	UBERON:0001119	94.20	gold quality
rectum	UBERON:0001052	94.15	gold quality
gall bladder	UBERON:0002110	94.14	gold quality
right coronary artery	UBERON:0001625	94.12	gold quality
left lobe of thyroid gland	UBERON:0001120	94.11	gold quality
left adrenal gland	UBERON:0001234	94.10	gold quality
skin of leg	UBERON:0001511	94.04	gold quality
prefrontal cortex	UBERON:0000451	93.99	gold quality
descending thoracic aorta	UBERON:0002345	93.99	gold quality
right uterine tube	UBERON:0001302	93.94	gold quality
caput epididymis	UBERON:0004358	93.94	gold quality
adrenal gland	UBERON:0002369	93.88	gold quality
adrenal cortex	UBERON:0001235	93.87	gold quality
thyroid gland	UBERON:0002046	93.87	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.07

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

152 targeting UBE2Z, 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-9-5P	100.00	72.28	2361
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-9-3P	99.96	70.88	2068

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 42.8% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 8)

• UBE2Z was widely expressed in human tissues and is located on chromosome 17q21. (PMID:17160626)
• In tissue culture cells, Uba6 is required for charging a previously uncharacterized Uba6-specific E2 (Use1), whereas Ube1 is required for charging the cell-cycle E2s Cdc34A and Cdc34B (PMID:17597759)
• Association of UBE2Z single nucleotide polymorphism rs46522 with the susceptibility to coronary artery disease in an Iranian population. (PMID:26602883)
• we found that USE1 proteins were frequently overexpressed in human lung cancer. Furthermore, overexpression of USE1 promoted in vivo and in vitro proliferation, migration, and invasion. (PMID:28376205)
• The SNP rs46522 in UBE2Z gene is associated with the risk of coronary Artery disease in the individuals of Chinese Han descent with type 2 diabetes and is of synergistic effect with Body mass index. (PMID:28840129)
• Upregulation of ubiquitin-conjugating enzyme E2Z is associated with human hepatocellular carcinoma. (PMID:31831168)
• Association between the UBE2Z rs46522 and TCF7L2 rs7903146 polymorphisms with type 2 diabetes in south western Iran. (PMID:32127821)
• UBE2Z gene rs46522 polymorphism is associated with abnormal metabolic parameters in Mexican patients with MI (PMID:32392439)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ube2z	ENSDARG00000029215
mus_musculus	Ube2z	ENSMUSG00000014349
rattus_norvegicus	Ube2z	ENSRNOG00000006868

Paralogs (24): UBE2T (ENSG00000077152), UBE2A (ENSG00000077721), UBE2K (ENSG00000078140), CDC34 (ENSG00000099804), UBE2I (ENSG00000103275), UBE2W (ENSG00000104343), UBE2R2 (ENSG00000107341), UBE2S (ENSG00000108106), UBE2B (ENSG00000119048), UBE2G1 (ENSG00000132388), UBE2J2 (ENSG00000160087), 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 Z — Q9H832 (reviewed: Q9H832)

Alternative names: E2 ubiquitin-conjugating enzyme Z, Uba6-specific E2 conjugating enzyme 1, Ubiquitin carrier protein Z, Ubiquitin-protein ligase Z

All UniProt accessions (6): D6RB11, Q9H832, H0Y9X8, I3L286, I3L3V3, I3L4C5

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the covalent attachment of ubiquitin to other proteins. Specific substrate for UBA6, not charged with ubiquitin by UBE1. May be involved in apoptosis regulation.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Widely expressed. Highly in placenta, pancreas, spleen and testis.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the ubiquitin-conjugating enzyme family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H832-1	1	yes
Q9H832-2	2

RefSeq proteins (1): NP_075567* (*=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 (27 total): helix 10, strand 6, turn 4, region of interest 2, chain 1, domain 1, active site 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5A4P	X-RAY DIFFRACTION	2.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H832-F1	82.49	0.70

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): 188 (glycyl thioester intermediate)

Post-translational modifications (1): 337

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: 397 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, GSE45365_NK_CELL_VS_CD11B_DC_UP, GCACCTT_MIR18A_MIR18B, RNGTGGGC_UNKNOWN, GOBP_LYSOSOMAL_TRANSPORT, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GAANYNYGACNY_UNKNOWN, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, YAO_HOXA10_TARGETS_VIA_PROGESTERONE_UP, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_MEMBRANE_FUSION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_VACUOLAR_TRANSPORT

GO Biological Process (5): ubiquitin-dependent protein catabolic process (GO:0006511), apoptotic process (GO:0006915), protein ubiquitination (GO:0016567), positive regulation of apoptotic process (GO:0043065), negative regulation of apoptotic process (GO:0043066)

GO Molecular Function (6): ATP binding (GO:0005524), molecular adaptor activity (GO:0060090), 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
cellular anatomical structure	3
apoptotic process	2
regulation of apoptotic process	2
binding	2
protein ubiquitination	1
modification-dependent protein catabolic process	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
protein modification by small protein conjugation	1
positive regulation of programmed cell death	1
negative regulation of programmed cell death	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
molecular_function	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein conjugating enzyme activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
catalytic activity	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

2210 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UBE2Z	UBA6	A0AVT1	934
UBE2Z	UBA1	P22314	752
UBE2Z	UBE2Q1	Q7Z7E8	702
UBE2Z	SNF8	Q96H20	623
UBE2Z	UBE2J1	Q9Y385	601
UBE2Z	UBB	P02248	572
UBE2Z	UBE2U	Q5VVX9	545
UBE2Z	ATP5MC1	P05496	532
UBE2Z	UBE2K	P27924	528
UBE2Z	UBE4B	O95155	511
UBE2Z	UBE2W	Q96B02	499
UBE2Z	UBD	O15205	490
UBE2Z	UBE2G2	P56554	473
UBE2Z	HHIPL1	Q96JK4	450
UBE2Z	UBOX5	O94941	447
UBE2Z	UBE2H	P37286	447

IntAct

86 interactions, top by confidence:

A	B	Type	Score
RABGGTB	YKT6	psi-mi:“MI:0914”(association)	0.740
UBE2Z	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.670
UBE2Z	REL	psi-mi:“MI:0915”(physical association)	0.560
UBE2Z	HMBOX1	psi-mi:“MI:0915”(physical association)	0.560
UBE2Z	AK8	psi-mi:“MI:0915”(physical association)	0.560
HMBOX1	UBE2Z	psi-mi:“MI:0915”(physical association)	0.560
AK8	UBE2Z	psi-mi:“MI:0915”(physical association)	0.560
REL	UBE2Z	psi-mi:“MI:0915”(physical association)	0.560
TRIM3	UBE2Z	psi-mi:“MI:0915”(physical association)	0.560
UBE2Z	GORASP2	psi-mi:“MI:0915”(physical association)	0.560
CCT3	UBE2Z	psi-mi:“MI:0915”(physical association)	0.560
INCA1	UBE2Z	psi-mi:“MI:0915”(physical association)	0.560
UBE2Z	PLEKHA6	psi-mi:“MI:0915”(physical association)	0.560
UBD	UBE2Z	psi-mi:“MI:0915”(physical association)	0.520
ZHX1-C8orf76	UBE2Z	psi-mi:“MI:0915”(physical association)	0.400
RNF144B	UBE2Z	psi-mi:“MI:0915”(physical association)	0.370
UBE2Z	RNF103	psi-mi:“MI:0915”(physical association)	0.370
MDM2	UBE2Z	psi-mi:“MI:0915”(physical association)	0.370
UBE2Z	RNF41	psi-mi:“MI:0915”(physical association)	0.370
RNF130	UBE2Z	psi-mi:“MI:0915”(physical association)	0.370
RNF150	UBE2Z	psi-mi:“MI:0915”(physical association)	0.370
UBE2Z	HLTF	psi-mi:“MI:0915”(physical association)	0.370
SYVN1	UBE2Z	psi-mi:“MI:0915”(physical association)	0.370
TRAF2	UBE2Z	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (90): TRIM65 (Two-hybrid), UBE2Z (Two-hybrid), HMBOX1 (Two-hybrid), AK8 (Two-hybrid), UBE2Z (Affinity Capture-RNA), UBE2Z (Affinity Capture-RNA), UBE2Z (Biochemical Activity), UBE2Z (Biochemical Activity), UBE2Z (Biochemical Activity), PLEKHF2 (Two-hybrid), UBA1 (Biochemical Activity), UBE2Z (Reconstituted Complex), UBE2Z (Reconstituted Complex), UBE2Z (Biochemical Activity), UBE2Z (Biochemical Activity)

ESM2 similar proteins: A0A3Q1LSX9, A2APV2, A7RRG3, B5X1G6, D3ZYR1, O35099, Q00944, Q07139, Q0E908, Q0JRZ9, Q28IA3, Q32L27, Q3B7D1, Q3KR97, Q3UD82, Q3UE37, Q3UQN2, Q498F8, Q4R5E1, Q5FVH4, Q5R807, Q5R8B7, Q5RE48, Q5XGV8, Q5ZJJ5, Q5ZLG9, Q64362, Q66KB0, Q6DG60, Q6PCF7, Q7TSS2, Q7YQJ9, Q7Z7E8, Q7ZYX1, Q8CI95, Q8K2Z8, Q8N3A8, Q8WVN8, Q96PY5, Q96QD5

Diamond homologs: A5PKP9, F4HPP7, O74196, O88738, P15732, P25867, P35129, P46595, P50623, P51965, P52482, P52483, P52485, P52487, P52490, P61077, P61078, P61079, P62837, P62838, P62839, P62840, P70711, Q02159, Q06AA9, Q11076, Q1RMX2, Q2T9X7, Q3B7D1, Q3UE37, Q3ZCF7, Q4R5N4, Q5R4V7, Q5UQ88, Q5ZKX6, Q66KB0, Q6DG60, Q6PCF7, Q6ZPJ3, Q6ZWY6

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
“Ub:E1 (UBA1 substrate)”	“up-regulates activity”	UBE2Z	ubiquitination
“Ub:E1 (UBA6 substrate)”	“up-regulates activity”	UBE2Z	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 70 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
Antigen processing: Ubiquitination & Proteasome degradation	8	6.0×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
protein K63-linked ubiquitination	6	25.1×	3e-05
ubiquitin-dependent protein catabolic process	10	11.6×	4e-06
protein polyubiquitination	6	10.8×	2e-03
protein ubiquitination	13	8.4×	2e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	45
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1975 predictions. Top by Δscore:

Variant	Effect	Δscore
17:48908818:GCG:G	donor_gain	1.0000
17:48916072:ACAG:A	acceptor_loss	1.0000
17:48916074:A:AG	acceptor_gain	1.0000
17:48916074:A:G	acceptor_loss	1.0000
17:48916075:G:A	acceptor_loss	1.0000
17:48916075:G:GA	acceptor_gain	1.0000
17:48916075:GT:G	acceptor_gain	1.0000
17:48916075:GTA:G	acceptor_gain	1.0000
17:48916075:GTAC:G	acceptor_gain	1.0000
17:48916075:GTACA:G	acceptor_gain	1.0000
17:48916184:ACAGG:A	donor_loss	1.0000
17:48916186:AGGT:A	donor_loss	1.0000
17:48916189:T:A	donor_loss	1.0000
17:48921246:A:T	donor_gain	1.0000
17:48922837:T:A	acceptor_gain	1.0000
17:48922842:TCCAG:T	acceptor_gain	1.0000
17:48922843:CCAG:C	acceptor_gain	1.0000
17:48922844:CA:C	acceptor_loss	1.0000
17:48922844:CAG:C	acceptor_gain	1.0000
17:48922845:A:AG	acceptor_gain	1.0000
17:48922845:A:C	acceptor_loss	1.0000
17:48922845:AG:A	acceptor_gain	1.0000
17:48922845:AGAG:A	acceptor_gain	1.0000
17:48922845:AGAGG:A	acceptor_gain	1.0000
17:48922846:G:A	acceptor_gain	1.0000
17:48922846:G:GC	acceptor_gain	1.0000
17:48922846:GA:G	acceptor_gain	1.0000
17:48922846:GAGG:G	acceptor_gain	1.0000
17:48922846:GAGGG:G	acceptor_gain	1.0000
17:48922933:TGCAG:T	donor_loss	1.0000

AlphaMissense

2326 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:48908750:T:A	W83R	1.000
17:48908750:T:C	W83R	1.000
17:48908752:G:C	W83C	1.000
17:48908752:G:T	W83C	1.000
17:48908810:C:T	R103W	1.000
17:48908814:T:A	I104N	1.000
17:48908820:G:C	R106P	1.000
17:48910809:G:A	D107N	1.000
17:48910809:G:C	D107H	1.000
17:48910809:G:T	D107Y	1.000
17:48910810:A:C	D107A	1.000
17:48910810:A:G	D107G	1.000
17:48910810:A:T	D107V	1.000
17:48910813:T:A	I108N	1.000
17:48910818:T:C	S110P	1.000
17:48910822:T:A	I111N	1.000
17:48910842:G:A	G118R	1.000
17:48910842:G:C	G118R	1.000
17:48910843:G:A	G118E	1.000
17:48910848:T:C	F120L	1.000
17:48910850:C:A	F120L	1.000
17:48910850:C:G	F120L	1.000
17:48910852:T:A	V121D	1.000
17:48910876:C:T	T129I	1.000
17:48912835:T:A	I131N	1.000
17:48912840:G:C	A133P	1.000
17:48912841:C:A	A133E	1.000
17:48912844:T:C	L134S	1.000
17:48912844:T:G	L134W	1.000
17:48912847:T:A	I135N	1.000

dbSNP variants (sampled 300 via entrez): RS1000135803 (17:48906459 T>C), RS1000246447 (17:48912619 A>G), RS1000331721 (17:48924231 C>G,T), RS1000521090 (17:48908228 G>A,T), RS1000555858 (17:48920939 C>T), RS1000639550 (17:48906784 G>A), RS1000840657 (17:48909518 G>A), RS1000944658 (17:48915231 T>G), RS1000982422 (17:48914289 A>G), RS1001145877 (17:48925955 G>T), RS1001208641 (17:48923460 G>A,T), RS1001294230 (17:48909308 C>G,T), RS1001380282 (17:48920347 C>A), RS1001428452 (17:48926245 T>C,G), RS1001431044 (17:48923710 T>A,C)

Disease associations

OMIM: gene MIM:611362 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST000998_5	Coronary heart disease	2.000000e-08
GCST003117_24	Myocardial infarction	8.000000e-06
GCST003542_158	Night sleep phenotypes	9.000000e-07
GCST004787_66	Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease)	1.000000e-06
GCST005414_22	Type 2 diabetes	3.000000e-08
GCST006867_77	Type 2 diabetes	2.000000e-13
GCST008839_57	Height	1.000000e-14
GCST90002385_503	High light scatter reticulocyte count	5.000000e-11
GCST90002386_73	High light scatter reticulocyte percentage of red cells	4.000000e-10
GCST90002400_221	Plateletcrit	3.000000e-15
GCST90002402_408	Platelet count	7.000000e-11
GCST90020028_1421	Hip circumference adjusted for BMI	4.000000e-11
GCST90020028_1422	Hip circumference adjusted for BMI	1.000000e-08

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007986	reticulocyte count
EFO:0007985	platelet crit
EFO:0004309	platelet count
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	increases expression	2
bisphenol A	increases methylation, decreases expression	1
beta-lapachone	increases expression	1
methylparaben	increases expression	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
4-aminophenylarsenoxide	decreases reaction, affects binding	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
nutlin 3	affects cotreatment, increases secretion	1
abrine	increases expression	1
LDN 193189	affects cotreatment, decreases 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	decreases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1
Vorinostat	decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Caffeine	increases phosphorylation	1
Dactinomycin	affects cotreatment, increases secretion	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Mercuric Chloride	decreases expression	1
Nickel	increases expression	1
Paraoxon	decreases expression	1
Selenium	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TV95	HAP1 UBE2Z (-) 1	Cancer cell line	Male
CVCL_TV96	HAP1 UBE2Z (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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