UBE2R2

Summary

UBE2R2 (ubiquitin conjugating enzyme E2 R2, HGNC:19907) is a protein-coding gene on chromosome 9p13.3, encoding Ubiquitin-conjugating enzyme E2 R2 (Q712K3). E2 ubiquitin-conjugating enzyme that accepts ubiquitin from an E1 ubiquitin-activating protein, and catalyzes its covalent attachment to other proteins by an E3 ubiquitin-protein ligase complex.

Protein kinase CK2 is a ubiquitous and pleiotropic Ser/Thr protein kinase involved in cell growth and transformation. This gene encodes a protein similar to the E2 ubiquitin conjugating enzyme UBC3/CDC34. Studies suggest that CK2-dependent phosphorylation of this ubiquitin-conjugating enzyme functions by regulating beta-TrCP substrate recognition and induces its interaction with beta-TrCP, enhancing beta-catenin degradation.

Source: NCBI Gene 54926 — RefSeq curated summary.

At a glance

• GWAS associations: 31
• Clinical variants (ClinVar): 15 total
• MANE Select transcript: NM_017811

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19907
Approved symbol	UBE2R2
Name	ubiquitin conjugating enzyme E2 R2
Location	9p13.3
Locus type	gene with protein product
Status	Approved
Aliases	UBC3B, CDC34B, FLJ20419, MGC10481
Ensembl gene	ENSG00000107341
Ensembl biotype	protein_coding
OMIM	612506
Entrez	54926

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000263228, ENST00000878933, ENST00000878934, ENST00000878935, ENST00000878936

RefSeq mRNA: 1 — MANE Select: NM_017811 NM_017811

CCDS: CCDS6546

Canonical transcript exons

ENST00000263228 — 5 exons

Exon	Start	End
ENSE00000928081	33886881	33886967
ENSE00000928082	33900174	33900271
ENSE00000928083	33911964	33912098
ENSE00001152505	33817160	33817934
ENSE00001257565	33917018	33920399

Expression profiles

Bgee: expression breadth ubiquitous, 263 present calls, max score 98.68.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 71.8838 / max 746.4495, expressed in 1823 samples.

FANTOM5 promoters (18 alternative TSS)

Promoter ID	TPM avg	Samples expressed
96482	49.0584	1819
96487	9.3319	1778
96484	3.4067	1001
96483	2.4742	1122
96488	1.9542	1133
96481	1.3323	1010
96489	0.8356	550
96490	0.7441	493
96486	0.5185	249
96485	0.4855	243

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	98.68	gold quality
secondary oocyte	CL:0000655	98.35	gold quality
kidney epithelium	UBERON:0004819	98.30	gold quality
ileal mucosa	UBERON:0000331	98.08	gold quality
left ventricle myocardium	UBERON:0006566	98.05	gold quality
tibialis anterior	UBERON:0001385	97.87	gold quality
cardiac muscle of right atrium	UBERON:0003379	97.87	gold quality
nipple	UBERON:0002030	97.51	gold quality
upper arm skin	UBERON:0004263	97.44	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	97.19	gold quality
adult organism	UBERON:0007023	97.14	gold quality
decidua	UBERON:0002450	96.68	gold quality
quadriceps femoris	UBERON:0001377	96.35	gold quality
cartilage tissue	UBERON:0002418	96.12	gold quality
vastus lateralis	UBERON:0001379	96.06	gold quality
deltoid	UBERON:0001476	96.04	gold quality
oocyte	CL:0000023	96.02	gold quality
myocardium	UBERON:0002349	95.95	gold quality
inferior vagus X ganglion	UBERON:0005363	95.91	gold quality
heart right ventricle	UBERON:0002080	95.68	gold quality
mammalian vulva	UBERON:0000997	95.56	gold quality
blood	UBERON:0000178	95.42	gold quality
embryo	UBERON:0000922	95.27	gold quality
ganglionic eminence	UBERON:0004023	95.27	gold quality
pylorus	UBERON:0001166	95.26	gold quality
dorsal root ganglion	UBERON:0000044	95.21	gold quality
entorhinal cortex	UBERON:0002728	95.14	gold quality
amniotic fluid	UBERON:0000173	95.04	gold quality
skeletal muscle tissue	UBERON:0001134	95.04	gold quality
penis	UBERON:0000989	94.93	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.90
E-GEOD-100618	no	540.72

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

169 targeting UBE2R2, 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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-3134	100.00	66.43	777
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-8485	100.00	77.57	4731
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-23A-3P	99.95	74.24	3163

Literature-anchored findings (GeneRIF, showing 4)

• Protein kinase CK2 dependent phosphorylation of the E2 ubiquitin conjugating enzyme UBC3B induces its interaction with beta-TRCp and enhances beta-catenin degradation [UBC3B] (PMID:12037680)
• Study shows that Ube2R1/2 forms a salt bridge interaction between a conserved Asp residue on Ube2R1/2 and acceptor ubiquitin residue Arg 54 and that perturbation of this interaction leads to the severe loss of UbeR2 activity. Results also provide new insight into how the Ube2R1/2 acidic loop may participate in catalysis. (PMID:27044868)
• UBE2R2 alone had negligible ubiquitylation activity at physiological concentrations and the ablation of UBE2R1/2 had no effect on the stability of SCF substrates in cells. A genome-wide CRISPR screen revealed that an additional E2 enzyme, UBE2G1, buffers against the loss of UBE2R1/2. (PMID:31868589)
• Functional conservation and divergence of the helix-turn-helix motif of E2 ubiquitin-conjugating enzymes. (PMID:34942047)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ube2r2	ENSMUSG00000036241
rattus_norvegicus	Ube2r2	ENSRNOG00000010727

Paralogs (24): UBE2T (ENSG00000077152), UBE2A (ENSG00000077721), UBE2K (ENSG00000078140), CDC34 (ENSG00000099804), UBE2I (ENSG00000103275), UBE2W (ENSG00000104343), 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), UBE2J1 (ENSG00000198833), PEDS1 (ENSG00000240849), UBE2V1 (ENSG00000244687), UBE2NL (ENSG00000276380)

Protein

Protein identifiers

Ubiquitin-conjugating enzyme E2 R2 — Q712K3 (reviewed: Q712K3)

Alternative names: E2 ubiquitin-conjugating enzyme R2, Ubiquitin carrier protein R2, Ubiquitin-conjugating enzyme E2-CDC34B, Ubiquitin-protein ligase R2

All UniProt accessions (1): Q712K3

UniProt curated annotations — full annotation on UniProt →

Function. E2 ubiquitin-conjugating enzyme that accepts ubiquitin from an E1 ubiquitin-activating protein, and catalyzes its covalent attachment to other proteins by an E3 ubiquitin-protein ligase complex. In vitro catalyzes monoubiquitination and ‘Lys-48’-linked polyubiquitination. Works in collaboration with various Cul1-RING and Cul2-RING E3 ligase complexes. May be involved in degradation of katenin.

Subunit / interactions. Interacts with multiple Cul1-RING E3 ubiquitin-protein ligase complexes, also known as SCF (SKP1-CUL1-F-box protein) complexes, including SCF(FBXW7) and SCF(BTRC). Interacts with multiple Cul2-RING (CRL2) E3 ubiquitin-protein ligase complexes, also known as ECS (Elongin BC-CUL2/5-SOCS-box protein) complexes, including CRL2(FEM1C) and ECS(VHL). When phosphorylated, interacts with beta-TrCP (BTRC).

Activity regulation. Neddylation of CUL2 in the CRL2(FEM1C) E3 ligase complex increases substrate affinity of UBE2R2 and the ubiquitin-transfer rate in the E2-E3 complex.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the ubiquitin-conjugating enzyme family.

RefSeq proteins (1): NP_060281* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000608	UBC	Domain
IPR016135	UBQ-conjugating_enzyme/RWD	Homologous_superfamily
IPR023313	UBQ-conjugating_AS	Active_site
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)
• 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 (42 total): mutagenesis site 14, helix 8, strand 7, turn 4, region of interest 2, sequence conflict 2, chain 1, domain 1, compositionally biased region 1, active site 1, modified residue 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
6NYO	X-RAY DIFFRACTION	1.5
8R5H	ELECTRON MICROSCOPY	3.44
8Q7R	ELECTRON MICROSCOPY	3.71
8PQL	ELECTRON MICROSCOPY	3.76

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q712K3-F1	85.52	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): 93 (glycyl thioester intermediate)

Post-translational modifications (1): 233

Mutagenesis-validated functional residues (14):

Position	Phenotype
102	decrease in substrate affinity and ubiquitin transfer rate for neddylated crl2(fem1c)-ube2r2 complex; when associated wi
103	impairs polyubiquitin-chain formation. decrease in substrate affinity and ubiquitin transfer rate for neddylated crl2(fe
106	impairs polyubiquitin-chain formation. decrease in substrate affinity.
106	decrease in substrate affinity and ubiquitin transfer rate for neddylated crl2(fem1c)-ube2r2 complex.
108	impairs polyubiquitin-chain formation. decrease in substrate affinity and ubiquitin transfer rate for neddylated crl2(fe
108	decrease in substrate affinity and ubiquitin transfer rate for neddylated crl2(fem1c)-ube2r2 complex.
112	impairs polyubiquitin-chain formation. decrease in substrate affinity and ubiquitin transfer rate for neddylated crl2(fe
113	impairs polyubiquitin-chain formation. decrease in substrate affinity and ubiquitin transfer rate for neddylated crl2(fe
143	decrease in substrate affinity and ubiquitin transfer rate for neddylated crl2(fem1c)-ube2r2 complex.
149	decrease in substrate affinity and ubiquitin transfer rate for neddylated crl2(fem1c)-ube2r2 complex.
233	abolishes phosphorylation by ck2.
93	loss of function.
97	loss of function.
98	impairs polyubiquitin-chain formation.

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: 173 (showing top): REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, SP3_Q3, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, RACCACAR_AML_Q6, WONG_PROTEASOME_GENE_MODULE, EVI1_05, AML_Q6, chr9p13, HNF4_DR1_Q3, GOBP_PROTEIN_MONOUBIQUITINATION, ZIC1_01, HNF4_01, AAAGGGA_MIR204_MIR211

GO Biological Process (5): protein polyubiquitination (GO:0000209), ubiquitin-dependent protein catabolic process (GO:0006511), protein monoubiquitination (GO:0006513), protein K48-linked ubiquitination (GO:0070936), 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 (1): 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	3
modification-dependent protein catabolic process	1
protein polyubiquitination	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
cytoplasm	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2671 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UBE2R2	UBA6	A0AVT1	855
UBE2R2	UBD	O15205	806
UBE2R2	RBX1	P62877	735
UBE2R2	UBA1	P22314	730
UBE2R2	BTRC	Q9Y297	632
UBE2R2	FBXW7	Q969H0	588
UBE2R2	CSNK2A2	P19784	544
UBE2R2	UBE2Q1	Q7Z7E8	497
UBE2R2	SKP1	P34991	492
UBE2R2	CTNNB1	P35222	473
UBE2R2	NEDD8	Q15843	450
UBE2R2	UBA3	Q8TBC4	440
UBE2R2	NAE1	Q13564	430
UBE2R2	ARIH1	Q9Y4X5	418
UBE2R2	CUL1	Q13616	413

IntAct

62 interactions, top by confidence:

A	B	Type	Score
MEOX1	UBE2R2	psi-mi:“MI:0915”(physical association)	0.720
UBE2R2	MEOX1	psi-mi:“MI:0915”(physical association)	0.720
GABARAPL2	IPO5	psi-mi:“MI:0914”(association)	0.690
TGIF2LY	PGP	psi-mi:“MI:0914”(association)	0.640
UBE2R2	APPBP2	psi-mi:“MI:0915”(physical association)	0.560
APPBP2	UBE2R2	psi-mi:“MI:0915”(physical association)	0.560
SDCBP	UBE2R2	psi-mi:“MI:0915”(physical association)	0.560
GSC2	UBE2R2	psi-mi:“MI:0915”(physical association)	0.560
TCEANC2	HTATSF1	psi-mi:“MI:0914”(association)	0.530
UBE2R2	RNF113B	psi-mi:“MI:0915”(physical association)	0.370
DZIP3	UBE2R2	psi-mi:“MI:0915”(physical association)	0.370
UBE2R2	ARIH2	psi-mi:“MI:0915”(physical association)	0.370
CBLC	UBE2R2	psi-mi:“MI:0915”(physical association)	0.370
UBE2R2	DTX3L	psi-mi:“MI:0915”(physical association)	0.370
UBE2R2	ARHGDIA	psi-mi:“MI:0915”(physical association)	0.370
UBE2R2	FBXW5	psi-mi:“MI:0915”(physical association)	0.370
INF2	UBE2R2	psi-mi:“MI:0915”(physical association)	0.370
UBE2R2	PNPLA2	psi-mi:“MI:0915”(physical association)	0.370
UBA52	UBE2R2	psi-mi:“MI:0915”(physical association)	0.370
JUN		psi-mi:“MI:0914”(association)	0.350
BATF3	TARSL2	psi-mi:“MI:0914”(association)	0.350
IRF9	ANKHD1	psi-mi:“MI:0914”(association)	0.350
TCEANC2	ANKHD1	psi-mi:“MI:0914”(association)	0.350
COPA	ESYT2	psi-mi:“MI:0914”(association)	0.350
COPG2	ILVBL	psi-mi:“MI:0914”(association)	0.350
COPZ1	ATL3	psi-mi:“MI:0914”(association)	0.350
SPANXN4	UBA6	psi-mi:“MI:0914”(association)	0.350

BioGRID (103): UBE2R2 (Two-hybrid), UBE2R2 (Two-hybrid), UBE2R2 (Affinity Capture-MS), UBE2R2 (Affinity Capture-MS), UBE2R2 (Affinity Capture-MS), UBE2D2 (Co-fractionation), UBE2R2 (Synthetic Lethality), UBE2R2 (Proximity Label-MS), UBC (Biochemical Activity), CTNNB1 (Biochemical Activity), RBX1 (Reconstituted Complex), UBE2R2 (Affinity Capture-MS), UBE2R2 (Affinity Capture-MS), UBE2R2 (Affinity Capture-MS), UBE2R2 (Reconstituted Complex)

ESM2 similar proteins: A3KN22, O74549, P0C8G3, P21734, P25869, P27949, P49427, P51965, P52482, P52491, P61081, P61082, P62253, P62254, P62255, Q08BH7, Q1RMW1, Q29503, Q3UWQ3, Q42540, Q42541, Q54TI6, Q55EY8, Q5M8Y2, Q5U203, Q5ZKX6, Q6C9W0, Q6CSW8, Q6DCZ9, Q6FVQ8, Q6IRC7, Q6NY82, Q6P8D9, Q6ZWZ2, Q712K3, Q75AF2, Q7ZY08, Q8CFI2, Q91W82, Q95017

Diamond homologs: A0A1B0GUS4, A5PJC4, A5PKP9, D3ZDK2, O13685, O14933, O74196, O74810, P0C8G3, P0C8G4, P0C8G5, P15731, P15732, P21734, P25867, P25869, P27949, P35128, P35129, P35131, P35132, P35133, P35134, P35135, P43102, P46595, P49427, P51668, P51965, P52482, P52483, P52485, P52487, P52490, P52492, P61077, P61078, P61079, P61080, P61088

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
CSNK2A2	“up-regulates activity”	UBE2R2	phosphorylation
“Ub:E1 (UBA1 substrate)”	“up-regulates activity”	UBE2R2	ubiquitination
“Ub:E1 (UBA6 substrate)”	“up-regulates activity”	UBE2R2	ubiquitination
CSNK2A1	“up-regulates activity”	UBE2R2	phosphorylation

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
FCERI mediated NF-kB activation	5	19.1×	8e-04
CLEC7A (Dectin-1) signaling	5	17.4×	1e-03
Downstream TCR signaling	5	15.7×	1e-03
Antigen processing: Ubiquitination & Proteasome degradation	10	9.1×	4e-05

GO biological processes:

GO term	Partners	Fold	FDR
protein K48-linked ubiquitination	5	13.6×	2e-03
protein polyubiquitination	6	11.2×	2e-03
ubiquitin-dependent protein catabolic process	8	9.6×	3e-04
protein ubiquitination	12	8.0×	1e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	7
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1420 predictions. Top by Δscore:

Variant	Effect	Δscore
9:33817931:CAAG:C	donor_loss	1.0000
9:33817932:AAG:A	donor_loss	1.0000
9:33817934:GGT:G	donor_loss	1.0000
9:33817935:G:C	donor_loss	1.0000
9:33817936:T:A	donor_loss	1.0000
9:33900170:GTA:G	acceptor_loss	1.0000
9:33900171:TAGAA:T	acceptor_loss	1.0000
9:33900172:A:AG	acceptor_gain	1.0000
9:33900172:AG:A	acceptor_loss	1.0000
9:33900172:AGAAT:A	acceptor_gain	1.0000
9:33900173:G:GT	acceptor_gain	1.0000
9:33900173:GA:G	acceptor_gain	1.0000
9:33900173:GAAT:G	acceptor_gain	1.0000
9:33900173:GAATG:G	acceptor_gain	1.0000
9:33900267:GTGAG:G	donor_gain	1.0000
9:33900269:GAG:G	donor_gain	1.0000
9:33900271:GGTAA:G	donor_loss	1.0000
9:33900272:G:GA	donor_loss	1.0000
9:33900272:G:GG	donor_gain	1.0000
9:33911958:TTCTA:T	acceptor_loss	1.0000
9:33911960:CTAG:C	acceptor_loss	1.0000
9:33911961:TAGG:T	acceptor_loss	1.0000
9:33911962:A:AG	acceptor_gain	1.0000
9:33911962:A:AT	acceptor_loss	1.0000
9:33911963:G:GG	acceptor_gain	1.0000
9:33911963:GGACT:G	acceptor_gain	1.0000
9:33912096:TAGGT:T	donor_loss	1.0000
9:33912099:G:A	donor_loss	1.0000
9:33912099:G:GG	donor_gain	1.0000
9:33912100:TAAGG:T	donor_loss	1.0000

AlphaMissense

1584 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:33817795:T:A	L13Q	1.000
9:33817795:T:C	L13P	1.000
9:33817836:G:C	G27R	1.000
9:33817837:G:A	G27D	1.000
9:33817878:T:A	W41R	1.000
9:33817878:T:C	W41R	1.000
9:33817879:G:C	W41S	1.000
9:33817880:G:C	W41C	1.000
9:33817880:G:T	W41C	1.000
9:33817887:G:C	A44P	1.000
9:33817891:T:A	I45N	1.000
9:33817896:G:A	G47R	1.000
9:33817896:G:C	G47R	1.000
9:33817897:G:A	G47E	1.000
9:33817897:G:T	G47V	1.000
9:33817923:G:C	G56R	1.000
9:33817924:G:A	G56D	1.000
9:33817926:T:G	Y57D	1.000
9:33817930:T:C	F58S	1.000
9:33886881:G:C	A60P	1.000
9:33886882:C:A	A60E	1.000
9:33886893:T:C	F64L	1.000
9:33886894:T:C	F64S	1.000
9:33886895:T:A	F64L	1.000
9:33886895:T:G	F64L	1.000
9:33886905:T:C	Y68H	1.000
9:33886905:T:G	Y68D	1.000
9:33886908:C:T	P69S	1.000
9:33886909:C:A	P69H	1.000
9:33886918:C:A	P72Q	1.000

dbSNP variants (sampled 300 via entrez): RS1000049227 (9:33872293 T>G), RS1000063236 (9:33888962 T>A), RS1000077579 (9:33855737 G>T), RS1000085407 (9:33853493 C>T), RS1000133740 (9:33893059 C>G,T), RS1000141578 (9:33813177 A>G), RS1000150032 (9:33827649 AAATT>A,AAATTAATT), RS1000151788 (9:33813674 C>T), RS1000167964 (9:33895815 T>C), RS1000180463 (9:33853079 T>C), RS1000213035 (9:33902000 A>G), RS1000282617 (9:33920348 A>G), RS1000294259 (9:33882087 A>G,T), RS1000302705 (9:33822092 A>C,T), RS1000321428 (9:33861682 G>A,C)

Disease associations

OMIM: gene MIM:612506 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

31 associations (top):

Study	Trait	p-value
GCST002783_408	Body mass index	8.000000e-06
GCST006865_1	Bipolar disorder	5.000000e-06
GCST006865_18	Bipolar disorder	4.000000e-06
GCST007876_109	Estimated glomerular filtration rate	2.000000e-08
GCST008513_19	Health literacy	4.000000e-06
GCST010002_319	Refractive error	4.000000e-13
GCST010796_322	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-10
GCST010796_323	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-08
GCST010796_324	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_325	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_326	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-09
GCST010796_327	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-09
GCST010796_328	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08
GCST010796_329	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-09
GCST010796_330	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-10
GCST010796_331	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-09
GCST010796_332	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-09
GCST010796_333	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-09
GCST010796_334	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-09
GCST010796_335	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_336	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-08
GCST010796_337	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-09
GCST010796_338	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-09
GCST010796_339	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08
GCST010796_340	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08
GCST010796_341	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-09
GCST010796_342	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-09
GCST010796_343	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08
GCST010796_344	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST90002387_334	Immature fraction of reticulocytes	8.000000e-47

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0010104	health literacy measurement
EFO:0004327	electrocardiography
EFO:0004528	mean corpuscular hemoglobin concentration

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	5
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
triphenyl phosphate	affects expression	1
glycidyl methacrylate	decreases expression	1
lead acetate	increases expression	1
trichostatin A	affects expression	1
4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
aflatoxin B2	decreases methylation	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Cadmium	increases abundance, increases palmitoylation, decreases reaction	1
Dieldrin	decreases response to substance	1
Formaldehyde	decreases expression	1
Ivermectin	decreases expression	1
Lead	affects splicing	1
Silicon Dioxide	decreases expression	1
Thiram	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	decreases reaction, increases abundance, increases palmitoylation	1
Particulate Matter	decreases expression, increases abundance	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TV87	HAP1 UBE2R2 (-) 1	Cancer cell line	Male
CVCL_TV88	HAP1 UBE2R2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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