UBE2H

Summary

UBE2H (ubiquitin conjugating enzyme E2 H, HGNC:12484) is a protein-coding gene on chromosome 7q32.2, encoding Ubiquitin-conjugating enzyme E2 H (P62256). Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. It is a selective cancer dependency (DepMap: 41.5% 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. The encoded protein sequence is 100% identical to the mouse homolog and 98% identical to the frog and zebrafish homologs. Three alternatively spliced transcript variants have been found for this gene and they encode distinct isoforms.

Source: NCBI Gene 7328 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 17 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 41.5% of screened cell lines
• MANE Select transcript: NM_003344

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12484
Approved symbol	UBE2H
Name	ubiquitin conjugating enzyme E2 H
Location	7q32.2
Locus type	gene with protein product
Status	Approved
Aliases	UBCH, UBC8, GID3
Ensembl gene	ENSG00000186591
Ensembl biotype	protein_coding
OMIM	601082
Entrez	7328

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 9 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay

ENST00000355621, ENST00000463272, ENST00000472396, ENST00000473814, ENST00000480245, ENST00000483368, ENST00000486283, ENST00000490974, ENST00000496698, ENST00000649897, ENST00000871229, ENST00000930649, ENST00000940905

RefSeq mRNA: 3 — MANE Select: NM_003344 NM_001202498, NM_003344, NM_182697

CCDS: CCDS47710, CCDS5814, CCDS94197

Canonical transcript exons

ENST00000355621 — 7 exons

Exon	Start	End
ENSE00001331008	129880895	129880971
ENSE00001340844	129839207	129839335
ENSE00001408604	129830732	129835061
ENSE00001414343	129952503	129952960
ENSE00003560961	129879568	129879642
ENSE00003607088	129858902	129858941
ENSE00003637102	129857511	129857563

Expression profiles

Bgee: expression breadth ubiquitous, 282 present calls, max score 99.83.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 47.6468 / max 729.1017, expressed in 1814 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
86108	47.4113	1814
86107	0.1498	40
86106	0.0858	22

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	99.83	gold quality
oocyte	CL:0000023	97.39	gold quality
adrenal tissue	UBERON:0018303	97.02	gold quality
right adrenal gland cortex	UBERON:0035827	96.61	gold quality
colonic epithelium	UBERON:0000397	96.44	gold quality
saphenous vein	UBERON:0007318	96.43	gold quality
right adrenal gland	UBERON:0001233	96.42	gold quality
medial globus pallidus	UBERON:0002477	96.42	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	96.41	gold quality
amniotic fluid	UBERON:0000173	96.36	gold quality
esophagus squamous epithelium	UBERON:0006920	96.27	gold quality
islet of Langerhans	UBERON:0000006	96.24	gold quality
left adrenal gland	UBERON:0001234	96.14	gold quality
caput epididymis	UBERON:0004358	96.13	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.13	gold quality
adrenal gland	UBERON:0002369	96.10	gold quality
ascending aorta	UBERON:0001496	96.01	gold quality
thoracic aorta	UBERON:0001515	96.00	gold quality
cauda epididymis	UBERON:0004360	95.94	gold quality
aorta	UBERON:0000947	95.93	gold quality
globus pallidus	UBERON:0001875	95.91	gold quality
adrenal cortex	UBERON:0001235	95.89	gold quality
popliteal artery	UBERON:0002250	95.89	gold quality
tibial artery	UBERON:0007610	95.89	gold quality
stromal cell of endometrium	CL:0002255	95.84	gold quality
vena cava	UBERON:0004087	95.75	gold quality
epithelium of esophagus	UBERON:0001976	95.73	gold quality
corpus epididymis	UBERON:0004359	95.69	gold quality
left adrenal gland cortex	UBERON:0035825	95.68	gold quality
descending thoracic aorta	UBERON:0002345	95.66	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-9221	yes	19.34
E-GEOD-111727	no	2404.40
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TAL1

miRNA regulators (miRDB)

235 targeting UBE2H, 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-5011-5P	100.00	83.46	5820
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-8485	100.00	77.57	4731
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-4713-3P	100.00	65.92	505
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-12136	99.98	72.81	5713

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 41.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 4)

• UBE2H gene could be one of the 7q-susceptibility loci for autistic disorder. (PMID:14639049)
• Results suggest that the UBE2H gene is not implicated in sporadic ALS. (PMID:19922136)
• Tal1 expression activated UBE2H expression, whereas Tal1 knock-down reduced UBE2H expression and ubiquitin transfer activity. (PMID:20028976)
• Predictive Potential of Circulating Ube2h mRNA as an E2 Ubiquitin-Conjugating Enzyme for Diagnosis or Treatment of Alzheimer’s Disease. (PMID:32403399)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ube2h	ENSDARG00000000019
mus_musculus	Ube2h	ENSMUSG00000039159
rattus_norvegicus	Ube2h	ENSRNOG00000048205
drosophila_melanogaster	UbcE2H	FBGN0029996
caenorhabditis_elegans		WBGENE00006705

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), UBE2J1 (ENSG00000198833), PEDS1 (ENSG00000240849), UBE2V1 (ENSG00000244687), UBE2NL (ENSG00000276380)

Protein

Protein identifiers

Ubiquitin-conjugating enzyme E2 H — P62256 (reviewed: P62256)

Alternative names: (E3-independent) E2 ubiquitin-conjugating enzyme H, E2 ubiquitin-conjugating enzyme H, UbcH2, Ubiquitin carrier protein H, Ubiquitin-conjugating enzyme E2-20K, Ubiquitin-protein ligase H

All UniProt accessions (7): A0A3B3IU20, A4D1L5, C9J8Q9, C9JZG9, C9JZY6, P62256, H7C4M9

UniProt curated annotations — full annotation on UniProt →

Function. Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. E2 ubiquitin conjugating enzyme that transfers ubiquitin to MAEA, a core component of the CTLH E3 ubiquitin-protein ligase complex. In vitro catalyzes ‘Lys-11’- and ‘Lys-48’-linked polyubiquitination. Capable, in vitro, to ubiquitinate histone H2A.

Subunit / interactions. Interacts with MAEA and WDR26, components of the CTLH complex that contains GID4, RANBP9 and/or RANBP10, MKLN1, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, ARMC8, WDR26 and YPEL5.

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?
P62256-1	1	yes
P62256-2	2

RefSeq proteins (3): NP_001189427, NP_003335, NP_874356 (=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): helix 7, strand 6, turn 3, compositionally biased region 2, chain 1, domain 1, region of interest 1, active site 1, modified residue 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
2Z5D	X-RAY DIFFRACTION	2.1
8PJN	ELECTRON MICROSCOPY	3.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P62256-F1	89.97	0.82

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): 87 (glycyl thioester intermediate)

Post-translational modifications (1): 60

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: 350 (showing top): ATF_B, CREL_01, GCM_MAP4K4, AAGCAAT_MIR137, FREAC2_01, GCM_PTPRD, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, ENK_UV_RESPONSE_KERATINOCYTE_UP, CMYB_01, GCM_ZNF198, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, TATTATA_MIR374, FOXO4_01

GO Biological Process (6): protein polyubiquitination (GO:0000209), ubiquitin-dependent protein catabolic process (GO:0006511), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), protein K48-linked ubiquitination (GO:0070936), protein K11-linked ubiquitination (GO:0070979), protein ubiquitination (GO:0016567)

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

GO Cellular Component (2): nucleus (GO:0005634), cytosol (GO:0005829)

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
protein ubiquitination	2
protein polyubiquitination	2
modification-dependent protein catabolic process	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
protein modification by small protein conjugation	1
ubiquitin-like protein transferase activity	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
cytoplasm	1
cellular anatomical structure	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

73 interactions, top by confidence:

A	B	Type	Score
GID8	HTRA2	psi-mi:“MI:0914”(association)	0.610
MAGEC2	TP53	psi-mi:“MI:0914”(association)	0.590
UBE2H	MAGEC2	psi-mi:“MI:0915”(physical association)	0.580
MAGEC2	UBE2H	psi-mi:“MI:0915”(physical association)	0.580
UBE2H	GNB2	psi-mi:“MI:0915”(physical association)	0.560
HTT	UBE2H	psi-mi:“MI:0915”(physical association)	0.560
PIP4K2A	AP3B1	psi-mi:“MI:0914”(association)	0.530
MAGEA2	UBE2H	psi-mi:“MI:0915”(physical association)	0.520
UBE2H	MAGEA2	psi-mi:“MI:0915”(physical association)	0.520
WDR26	HTRA2	psi-mi:“MI:0914”(association)	0.510
UBE2H	LNX2	psi-mi:“MI:0915”(physical association)	0.490
UBE2H	GOLGA2	psi-mi:“MI:0915”(physical association)	0.490
UBE2H	PSME3	psi-mi:“MI:0915”(physical association)	0.490
UBE2H	TLE5	psi-mi:“MI:0915”(physical association)	0.490
LNX2	UBE2H	psi-mi:“MI:0915”(physical association)	0.490
GOLGA2	UBE2H	psi-mi:“MI:0915”(physical association)	0.490
PSME3	UBE2H	psi-mi:“MI:0915”(physical association)	0.490
TLE5	UBE2H	psi-mi:“MI:0915”(physical association)	0.490
NHLRC1	UBA1	psi-mi:“MI:0915”(physical association)	0.400
RNF103	UBE2H	psi-mi:“MI:0915”(physical association)	0.370
NEURL1	UBE2H	psi-mi:“MI:0915”(physical association)	0.370
RNF186	UBE2H	psi-mi:“MI:0915”(physical association)	0.370
TRIM56	UBE2H	psi-mi:“MI:0915”(physical association)	0.370
DHPS	UBE2H	psi-mi:“MI:0915”(physical association)	0.370
UBE2H	ZBTB17	psi-mi:“MI:0915”(physical association)	0.370
DNM1L	UBE2H	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (2013): UBE2H (Reconstituted Complex), UBE2H (Reconstituted Complex), UBE2H (Two-hybrid), UBE2H (Reconstituted Complex), UBE2H (Reconstituted Complex), UBE2H (Biochemical Activity), WDR26 (Affinity Capture-MS), ARMC8 (Affinity Capture-MS), UBE2H (Affinity Capture-MS), UBE2H (Affinity Capture-RNA), UBE2H (Reconstituted Complex), UBE2H (Affinity Capture-MS), UBE2H (Affinity Capture-MS), MAEA (Biochemical Activity), HBP1 (Biochemical Activity)

ESM2 similar proteins: A1ZBR5, A7RRG3, B0X6E8, B3MEZ6, B3MGT3, B3N6U7, B3NK72, B4GD81, B4H581, B4HPU1, B4HT57, B4J613, B4JWF5, B4KMF8, B4KS18, B4LNV5, B4LPP8, B4MQY1, B4MRW2, B4NWM2, B4PAP8, B4QEJ9, B4QHS6, C4R826, F4HPP7, O42646, O60015, P29340, P49428, P52484, P52491, P62256, P62257, Q17PP1, Q28XA5, Q28YD9, Q32LN1, Q3UWQ3, Q54AK6, Q54TI6

Diamond homologs: A1ZBR5, A7RRG3, B0X6E8, B3MEZ6, B3MGT3, B3N6U7, B3NK72, B4GD81, B4H581, B4HPU1, B4HT57, B4J613, B4JWF5, B4KMF8, B4KS18, B4LNV5, B4LPP8, B4MQY1, B4MRW2, B4NWM2, B4PAP8, B4QEJ9, B4QHS6, B5X1G6, P61077, P61078, P61079, P62256, P62257, Q06AA9, Q17PP1, Q28IA3, Q28XA5, Q32LN1, Q3ZCF7, Q498F8, Q4R5E1, Q4R5N4, Q5FVH4, Q5R4V7

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
“Ub:E1 (UBA1 substrate)”	“up-regulates activity”	UBE2H	ubiquitination
“Ub:E1 (UBA6 substrate)”	“up-regulates activity”	UBE2H	ubiquitination
TAL1	“up-regulates quantity by expression”	UBE2H	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 65 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	13	9.9×	8e-08
Class I MHC mediated antigen processing & presentation	6	8.6×	4e-03

GO biological processes:

GO term	Partners	Fold	FDR
protein autoubiquitination	10	36.6×	3e-11
protein K63-linked ubiquitination	5	20.9×	3e-04
ubiquitin-dependent protein catabolic process	13	15.1×	4e-10
protein polyubiquitination	8	14.4×	7e-06
autophagy	8	13.8×	9e-06
protein K48-linked ubiquitination	5	13.2×	2e-03
protein ubiquitination	18	11.7×	3e-12
proteasome-mediated ubiquitin-dependent protein catabolic process	11	9.0×	4e-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	3
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1993 predictions. Top by Δscore:

Variant	Effect	Δscore
7:129834937:C:CT	donor_gain	1.0000
7:129834938:T:TC	donor_gain	1.0000
7:129834949:AT:A	donor_gain	1.0000
7:129835016:T:TA	donor_gain	1.0000
7:129839201:TCTTA:T	donor_loss	1.0000
7:129839202:CTTAC:C	donor_loss	1.0000
7:129839203:TTA:T	donor_loss	1.0000
7:129839204:TA:T	donor_loss	1.0000
7:129839206:C:CA	donor_loss	1.0000
7:129844096:T:TA	donor_gain	1.0000
7:129858901:CG:C	donor_gain	1.0000
7:129879563:CATA:C	donor_loss	1.0000
7:129879564:ATAC:A	donor_loss	1.0000
7:129879565:TA:T	donor_loss	1.0000
7:129879566:A:AC	donor_gain	1.0000
7:129879566:ACCT:A	donor_loss	1.0000
7:129879567:C:CC	donor_gain	1.0000
7:129879638:TGGTG:T	acceptor_gain	1.0000
7:129879639:GGTG:G	acceptor_gain	1.0000
7:129879640:GTG:G	acceptor_gain	1.0000
7:129879641:TG:T	acceptor_gain	1.0000
7:129879641:TGCTG:T	acceptor_loss	1.0000
7:129879643:C:CC	acceptor_gain	1.0000
7:129879644:T:C	acceptor_loss	1.0000
7:129898635:T:TA	donor_gain	1.0000
7:129834950:T:TA	donor_gain	0.9900
7:129835060:CT:C	acceptor_gain	0.9900
7:129839336:C:CC	acceptor_gain	0.9900
7:129844100:T:TA	donor_gain	0.9900
7:129858900:A:AC	donor_gain	0.9900

AlphaMissense

1206 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:129839257:G:T	A126D	1.000
7:129839269:A:G	L122P	1.000
7:129839269:A:T	L122H	1.000
7:129839299:A:G	L112S	1.000
7:129839323:A:T	I104K	1.000
7:129857524:C:A	W95C	1.000
7:129857524:C:G	W95C	1.000
7:129857526:A:G	W95R	1.000
7:129857526:A:T	W95R	1.000
7:129857546:A:G	L88P	1.000
7:129857550:A:G	C87R	1.000
7:129857552:A:T	V86E	1.000
7:129857558:C:A	G84V	1.000
7:129857558:C:T	G84E	1.000
7:129858913:G:C	N78K	1.000
7:129858913:G:T	N78K	1.000
7:129858917:G:T	P77H	1.000
7:129858920:T:C	H76R	1.000
7:129858937:G:C	F70L	1.000
7:129858937:G:T	F70L	1.000
7:129858938:A:G	F70S	1.000
7:129858939:A:G	F70L	1.000
7:129879570:A:T	I68K	1.000
7:129879576:G:T	P66Q	1.000
7:129879615:A:T	V53D	1.000
7:129879622:A:G	W51R	1.000
7:129879622:A:T	W51R	1.000
7:129880906:C:T	G40E	1.000
7:129835043:G:T	A149D	0.999
7:129839254:G:T	A127E	0.999

dbSNP variants (sampled 300 via entrez): RS1000002044 (7:129928517 T>C), RS1000059125 (7:129872399 C>A), RS1000095198 (7:129928280 CA>C,CAA), RS1000116794 (7:129845002 C>T), RS1000124158 (7:129887303 C>A), RS1000129006 (7:129920652 G>A), RS1000181576 (7:129935643 C>T), RS1000209951 (7:129882755 G>A), RS1000237718 (7:129882478 A>C), RS1000275301 (7:129854594 T>C), RS1000277672 (7:129934878 A>C), RS1000310649 (7:129917482 G>A), RS1000318009 (7:129935345 G>A), RS1000358204 (7:129884949 C>T), RS1000432498 (7:129841661 G>A,T)

Disease associations

OMIM: gene MIM:601082 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST003813_2	Response to antidepressants and depression	8.000000e-07
GCST008058_104	Estimated glomerular filtration rate	1.000000e-18
GCST008059_12	Estimated glomerular filtration rate	9.000000e-16
GCST008747_131	Estimated glomerular filtration rate	6.000000e-07
GCST90002388_402	Lymphocyte count	1.000000e-09
GCST90002393_70	Monocyte count	6.000000e-13
GCST90002397_311	Mean spheric corpuscular volume	5.000000e-11
GCST90002407_489	White blood cell count	5.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004587	lymphocyte count
EFO:0005091	monocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4105951 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases expression, affects cotreatment	5
sodium arsenite	decreases expression, increases expression	4
methylmercuric chloride	affects cotreatment, increases expression	3
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression, increases expression	3
bisphenol A	increases expression, affects cotreatment	2
trichostatin A	affects expression, decreases expression	2
Acetaminophen	increases expression	2
Cadmium Chloride	decreases expression, increases methylation, increases abundance, increases expression	2
Copper Sulfate	increases expression	2
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, increases expression	1
geldanamycin	increases expression	1
alpha phellandrene	increases expression	1
arsenite	decreases reaction, affects binding	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
beta-methylcholine	affects expression	1
seocalcitol	increases expression	1
entinostat	decreases expression	1
K 7174	increases expression	1
lipopolysaccharide, Helicobacter pylori	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	1
dorsomorphin	increases expression, decreases expression, affects cotreatment	1
bisphenol S	affects cotreatment, increases expression	1
PCI 5002	affects cotreatment, increases expression	1
NSC668394	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4030869	Binding	Inhibition of UbcH2 (unknown origin) at 2.5 to 10 uM preincubated for 15 mins followed by E1, Ub and ATP addition measured after 40 mins by Western blot analysis	Discovery of Potent Small-Molecule Inhibitors of Ubiquitin-Conjugating Enzyme UbcH5c from α-Santonin Derivatives. — J Med Chem

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1ED	Abcam HCT 116 UBE2H KO	Cancer cell line	Male
CVCL_B2K5	Abcam HeLa UBE2H KO	Cancer cell line	Female
CVCL_TV72	HAP1 UBE2H (-) 1	Cancer cell line	Male
CVCL_TV73	HAP1 UBE2H (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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