UBE2Q2

Summary

UBE2Q2 (ubiquitin conjugating enzyme E2 Q2, HGNC:19248) is a protein-coding gene on chromosome 15q24.2, encoding Ubiquitin-conjugating enzyme E2 Q2 (Q8WVN8). Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins.

Enables ubiquitin-protein transferase activity. Involved in protein K48-linked ubiquitination. Predicted to be located in cytosol. Predicted to be active in nucleus.

Source: NCBI Gene 92912 — RefSeq curated summary.

At a glance

• GWAS associations: 19
• Clinical variants (ClinVar): 74 total
• MANE Select transcript: NM_173469

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19248
Approved symbol	UBE2Q2
Name	ubiquitin conjugating enzyme E2 Q2
Location	15q24.2
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp762C143
Ensembl gene	ENSG00000140367
Ensembl biotype	protein_coding
OMIM	612501
Entrez	92912

Gene structure

Transcript identifiers

Ensembl transcripts: 32 — 28 protein_coding, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000267938, ENST00000426727, ENST00000561723, ENST00000561851, ENST00000562635, ENST00000563966, ENST00000567921, ENST00000569423, ENST00000872676, ENST00000872677, ENST00000872678, ENST00000872679, ENST00000872680, ENST00000872681, ENST00000872682, ENST00000872683, ENST00000872684, ENST00000872685, ENST00000872686, ENST00000872687, ENST00000872688, ENST00000872689, ENST00000872690, ENST00000872691, ENST00000872692, ENST00000872693, ENST00000931648, ENST00000931649, ENST00000931650, ENST00000942849, ENST00000942850, ENST00000942851

RefSeq mRNA: 3 — MANE Select: NM_173469 NM_001145335, NM_001284382, NM_173469

CCDS: CCDS10286, CCDS45309, CCDS66839

Canonical transcript exons

ENST00000267938 — 13 exons

Exon	Start	End
ENSE00000942714	75868951	75869010
ENSE00000942717	75877961	75878021
ENSE00001610580	75873428	75873568
ENSE00001836297	75843447	75843846
ENSE00001873593	75899427	75901078
ENSE00002460229	75876187	75876271
ENSE00002497238	75859878	75859982
ENSE00003472679	75890919	75891014
ENSE00003493899	75879098	75879188
ENSE00003503624	75883366	75883424
ENSE00003570685	75896995	75897061
ENSE00003579599	75854386	75854487
ENSE00003685369	75890435	75890483

Expression profiles

Bgee: expression breadth ubiquitous, 259 present calls, max score 99.93.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.0213 / max 265.9175, expressed in 1817 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
147833	14.1107	1802
147831	6.1443	1743
147832	0.7664	477

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	99.93	gold quality
oocyte	CL:0000023	99.74	gold quality
tibia	UBERON:0000979	98.05	gold quality
palpebral conjunctiva	UBERON:0001812	96.30	gold quality
calcaneal tendon	UBERON:0003701	95.62	gold quality
parietal pleura	UBERON:0002400	95.10	gold quality
visceral pleura	UBERON:0002401	95.10	gold quality
layer of synovial tissue	UBERON:0007616	95.03	gold quality
synovial joint	UBERON:0002217	94.92	gold quality
germinal epithelium of ovary	UBERON:0001304	94.89	gold quality
saphenous vein	UBERON:0007318	94.77	gold quality
eye	UBERON:0000970	94.71	gold quality
skin of hip	UBERON:0001554	94.58	gold quality
upper arm skin	UBERON:0004263	94.53	gold quality
endometrium	UBERON:0001295	94.42	gold quality
substantia nigra pars compacta	UBERON:0001965	94.22	gold quality
urethra	UBERON:0000057	93.96	gold quality
placenta	UBERON:0001987	93.90	gold quality
thymus	UBERON:0002370	93.84	gold quality
superficial temporal artery	UBERON:0001614	93.79	gold quality
esophagus squamous epithelium	UBERON:0006920	93.60	gold quality
dorsal root ganglion	UBERON:0000044	93.48	gold quality
smooth muscle tissue	UBERON:0001135	93.44	gold quality
sural nerve	UBERON:0015488	93.35	gold quality
muscle layer of sigmoid colon	UBERON:0035805	93.29	gold quality
colonic epithelium	UBERON:0000397	93.23	gold quality
trigeminal ganglion	UBERON:0001675	93.23	gold quality
endothelial cell	CL:0000115	93.17	gold quality
penis	UBERON:0000989	93.17	gold quality
substantia nigra pars reticulata	UBERON:0001966	93.12	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.21
E-HCAD-29	no	88.55

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

126 targeting UBE2Q2, 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-4668-3P	100.00	68.74	2635
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-6772-5P	99.94	67.01	577
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777

Literature-anchored findings (GeneRIF, showing 6)

• the novel LOC92912 gene is characterized. It is over-expressed in hypopharyngeal tumours. Its functions may be linked with the cytoskeleton; it may represent a new target for cancer therapeutics. (PMID:16300736)
• Inhibition of the UBE2Q2 protein causes cells to undergo a prolonged prophase arrest suggesting that UBE2Q2 normally functions to antagonize an early mitotic checkpoint. (PMID:17471241)
• Found high expression levels of UBE2Q2 in human head and neck carcinoma cell lines and cancer tissues; found the level of UBE2Q2 is decreased in cell lines and cancer tissues that have resistance to CDDP or docetaxel. (PMID:19723876)
• In the 21 breast cancer cases investigated, a high increase in UBE2Q2 expression was found in 8 breast cancers (38.1%), a moderately increased UBE2Q2 expression was observed in 7 cases (33.3%), and no sig. changes were detected in 6 cases (28.6%). (PMID:20193842)
• The newly characterized human gene, UBE2Q2, may have implications for the pathogenesis of acute lymphoblastic leukemia. (PMID:22642244)
• UBE2Q1 hypomethylation is associated with Colorectal Cancer. (PMID:26745068)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ube2q2	ENSDARG00000013990
danio_rerio	ube2q1	ENSDARG00000100766
mus_musculus	Ube2q2	ENSMUSG00000032307
rattus_norvegicus	Ube2q2	ENSRNOG00000014529

Paralogs (12): UBE2D1 (ENSG00000072401), UBE2D4 (ENSG00000078967), UBE2D3 (ENSG00000109332), UBE2D2 (ENSG00000131508), UBE2L6 (ENSG00000156587), UBE2Q1 (ENSG00000160714), UBE2E3 (ENSG00000170035), UBE2E1 (ENSG00000170142), UBE2E2 (ENSG00000182247), UBE2L3 (ENSG00000185651), UBE2QL1 (ENSG00000215218), UBE2L5 (ENSG00000236444)

Protein

Protein identifiers

Ubiquitin-conjugating enzyme E2 Q2 — Q8WVN8 (reviewed: Q8WVN8)

Alternative names: E2 ubiquitin-conjugating enzyme Q2, Ubiquitin carrier protein Q2, Ubiquitin-protein ligase Q2

All UniProt accessions (4): Q8WVN8, E9PHD0, H3BN94, H3BV95

UniProt curated annotations — full annotation on UniProt →

Function. Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes ‘Lys-48’-linked polyubiquitination.

Subcellular location. Cytoplasm.

Tissue specificity. Detected in hypopharyngeal head and neck squamous cell carcinoma, in tumor masses and invasive epithelium.

Post-translational modifications. Auto-ubiquitinated in vitro.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the ubiquitin-conjugating enzyme family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q8WVN8-1	1	yes
Q8WVN8-2	2
Q8WVN8-3	3
Q8WVN8-4	4

RefSeq proteins (3): NP_001138807, NP_001271311, NP_775740* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000608	UBC	Domain
IPR006575	RWD_dom	Domain
IPR016135	UBQ-conjugating_enzyme/RWD	Homologous_superfamily
IPR050113	Ub_conjugating_enzyme-E2-like	Family

Pfam: PF00179, PF05773

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 5, splice variant 4, turn 2, compositionally biased region 2, chain 1, domain 1, sequence conflict 1, region of interest 1, active site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1ZUO	X-RAY DIFFRACTION	1.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WVN8-F1	83.41	0.53

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): 304 (glycyl thioester intermediate)

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: 150 (showing top): REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, WONG_PROTEASOME_GENE_MODULE, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, LIAO_METASTASIS, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, TTGGAGA_MIR5155P_MIR519E, DOUGLAS_BMI1_TARGETS_UP, KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS, CUI_TCF21_TARGETS_2_DN, YAMAZAKI_TCEB3_TARGETS_UP, GOBP_PROTEIN_K48_LINKED_UBIQUITINATION, ACEVEDO_LIVER_CANCER_UP

GO Biological Process (2): 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 (3): nucleus (GO:0005634), 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	2
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
intracellular membrane-bounded organelle	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

681 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UBE2Q2	TMEM171	Q8WVE6	609
UBE2Q2	B3GNT4	Q9C0J1	597
UBE2Q2	PRKAG2	Q9UGJ0	522
UBE2Q2	A1CF	Q9NQ94	520
UBE2Q2	UBE2B	P23567	491
UBE2Q2	UBE2A	P49459	490
UBE2Q2	TRIM46	Q7Z4K8	480
UBE2Q2	SFMBT1	Q9UHJ3	476
UBE2Q2	UBE2J1	Q9Y385	450
UBE2Q2	HNF4G	Q14541	447
UBE2Q2	UBE2K	P27924	439
UBE2Q2	UBE2J2	Q8N2K1	424
UBE2Q2	UBE2W	Q96B02	424
UBE2Q2	UBE2D4	Q9Y2X8	419
UBE2Q2	ATXN2	Q99700	415

IntAct

17 interactions, top by confidence:

A	B	Type	Score
GNB2	UBE2Q2	psi-mi:“MI:0915”(physical association)	0.560
UBE2Q2	HSPB1	psi-mi:“MI:0915”(physical association)	0.560
PCGF2	UBE2Q2	psi-mi:“MI:0915”(physical association)	0.370
EXOSC7	UBE2Q2	psi-mi:“MI:0915”(physical association)	0.370
UBE2Q2	RNF111	psi-mi:“MI:0915”(physical association)	0.370
UBE2Q2	XIAP	psi-mi:“MI:0915”(physical association)	0.370
UBE2Q2	TRIM25	psi-mi:“MI:0915”(physical association)	0.370
RNF10	UBE2Q2	psi-mi:“MI:0915”(physical association)	0.370
MGRN1	UBE2Q2	psi-mi:“MI:0915”(physical association)	0.370
UBE2Q2	PLS1	psi-mi:“MI:0914”(association)	0.350
UBE2Q2	LETM1	psi-mi:“MI:0914”(association)	0.350
TAF9	UBE2Q2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (39): UBE2Q2 (Biochemical Activity), UBE2Q2 (Reconstituted Complex), UBE2Q2 (Biochemical Activity), UBE2Q2 (Biochemical Activity), UBC (Biochemical Activity), UBE2Q2 (Reconstituted Complex), UBE2Q2 (Reconstituted Complex), UBE2Q2 (Reconstituted Complex), UBE2Q2 (Affinity Capture-RNA), UBE2Q1 (Affinity Capture-MS), PLS1 (Affinity Capture-MS), LETM1 (Affinity Capture-MS), RHOA (Affinity Capture-MS), UBE2Q2 (Reconstituted Complex), UBE2Q2 (Affinity Capture-Western)

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”	UBE2Q2	ubiquitination
“Ub:E1 (UBA6 substrate)”	“up-regulates activity”	UBE2Q2	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	54
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2325 predictions. Top by Δscore:

Variant	Effect	Δscore
15:75854376:T:TA	acceptor_gain	1.0000
15:75854380:A:AG	acceptor_gain	1.0000
15:75854381:A:G	acceptor_gain	1.0000
15:75854382:ACAG:A	acceptor_gain	1.0000
15:75854383:CA:C	acceptor_loss	1.0000
15:75854384:A:AG	acceptor_gain	1.0000
15:75854384:A:T	acceptor_loss	1.0000
15:75854384:AG:A	acceptor_gain	1.0000
15:75854385:G:GT	acceptor_gain	1.0000
15:75854385:GG:G	acceptor_gain	1.0000
15:75854385:GGA:G	acceptor_gain	1.0000
15:75854385:GGAA:G	acceptor_gain	1.0000
15:75854385:GGAAT:G	acceptor_gain	1.0000
15:75854483:ATTTG:A	donor_gain	1.0000
15:75854484:TTTG:T	donor_gain	1.0000
15:75854484:TTTGG:T	donor_loss	1.0000
15:75854485:TTGG:T	donor_loss	1.0000
15:75854486:TGGTA:T	donor_loss	1.0000
15:75854488:G:GG	donor_gain	1.0000
15:75854488:GTA:G	donor_loss	1.0000
15:75854489:T:A	donor_loss	1.0000
15:75868949:A:AG	acceptor_gain	1.0000
15:75868950:G:GA	acceptor_gain	1.0000
15:75868950:GAAT:G	acceptor_gain	1.0000
15:75869008:GAA:G	donor_gain	1.0000
15:75869010:AG:A	donor_loss	1.0000
15:75869011:GTAG:G	donor_gain	1.0000
15:75869012:T:A	donor_loss	1.0000
15:75873424:GTAG:G	acceptor_loss	1.0000
15:75873425:TA:T	acceptor_loss	1.0000

AlphaMissense

2470 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:75876211:G:C	A205P	1.000
15:75876212:C:A	A205D	1.000
15:75876222:A:C	R208S	1.000
15:75876222:A:T	R208S	1.000
15:75876224:T:A	L209H	1.000
15:75876224:T:C	L209P	1.000
15:75876236:T:C	L213P	1.000
15:75878002:T:A	W239R	1.000
15:75878002:T:C	W239R	1.000
15:75878009:T:A	V241D	1.000
15:75879118:T:C	L252S	1.000
15:75883372:T:C	F278L	1.000
15:75883374:T:A	F278L	1.000
15:75883374:T:G	F278L	1.000
15:75883375:C:A	P279T	1.000
15:75883375:C:T	P279S	1.000
15:75883376:C:A	P279Q	1.000
15:75883388:C:A	P283Q	1.000
15:75883388:C:G	P283R	1.000
15:75883394:T:A	V285D	1.000
15:75883397:G:C	R286P	1.000
15:75883423:G:A	G295R	1.000
15:75883423:G:C	G295R	1.000
15:75883423:G:T	G295W	1.000
15:75883424:G:A	G295E	1.000
15:75890451:G:A	G301R	1.000
15:75890451:G:C	G301R	1.000
15:75890452:G:A	G301E	1.000
15:75890452:G:T	G301V	1.000
15:75890460:T:C	C304R	1.000

dbSNP variants (sampled 300 via entrez): RS1000096278 (15:75890291 T>C,G), RS1000104889 (15:75896035 G>A), RS1000124475 (15:75871120 A>T), RS1000147068 (15:75882870 G>A), RS1000177285 (15:75870906 C>G,T), RS1000334854 (15:75900764 C>A), RS1000371181 (15:75876892 C>T), RS1000457916 (15:75869855 T>C), RS1000490800 (15:75851382 A>C,G), RS1000508587 (15:75869515 T>C), RS1000551645 (15:75852440 C>T), RS1000608572 (15:75875548 A>T), RS1000636321 (15:75864739 T>C), RS1000697248 (15:75888502 T>G), RS1000792277 (15:75901227 G>C)

Disease associations

OMIM: gene MIM:612501 | disease phenotypes: MIM:224120

GenCC curated gene-disease

Mondo (1): congenital dyserythropoietic anemia (MONDO:0019403)

Orphanet (1): Congenital dyserythropoietic anemia (Orphanet:85)

HPO phenotypes

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

GWAS associations

19 associations (top):

Study	Trait	p-value
GCST000649_3	Chronic kidney disease	3.000000e-17
GCST001791_42	Urate levels	3.000000e-13
GCST002828_24	Urate levels in obese individuals	8.000000e-06
GCST003372_55	Glomerular filtration rate (creatinine)	5.000000e-14
GCST003401_36	Glomerular filtration rate in non diabetics (creatinine)	6.000000e-13
GCST004292_8	Glomerular filtration rate (creatinine)	3.000000e-12
GCST005984_39	Glomerular filtration rate	4.000000e-11
GCST007344_127	Estimated glomerular filtration rate	3.000000e-21
GCST007344_29	Estimated glomerular filtration rate	5.000000e-12
GCST007344_61	Estimated glomerular filtration rate	1.000000e-08
GCST007876_30	Estimated glomerular filtration rate	3.000000e-25
GCST008746_30	Estimated glomerular filtration rate in diabetes	6.000000e-10
GCST008747_82	Estimated glomerular filtration rate	1.000000e-31
GCST010083_181	Hemoglobin levels	3.000000e-41
GCST010083_73	Hemoglobin levels	4.000000e-35
GCST010637_20	Urate levels	3.000000e-12
GCST011742_67	Triglyceride levels in HIV infection	1.000000e-06
GCST012338_32	Gout	1.000000e-09
GCST90002403_494	Red blood cell count	2.000000e-19

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0004509	hemoglobin measurement
EFO:0004530	triglyceride measurement
EFO:0004305	erythrocyte count

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D000742	Anemia, Dyserythropoietic, Congenital	C15.378.050.141.150.095; C16.320.070.095

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression, decreases expression, affects cotreatment	3
trichostatin A	increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Valproic Acid	affects expression, decreases expression, decreases methylation	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
3,4,5,3’,4’-pentachlorobiphenyl	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
fenpyroximate	decreases expression	1
4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Leflunomide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Antimycin A	decreases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Cadmium	increases abundance, increases expression	1
Doxorubicin	decreases expression	1
Lead	affects splicing	1
Quercetin	decreases expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1
Uric Acid	affects abundance	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07471516	PHASE1/PHASE2	RECRUITING	Zoledronic Acid Treatment in Patients With Congenital Dyserythropoietic Anemia
NCT02964494	Not specified	RECRUITING	The Congenital Dyserythropoietic Anemia Registry (CDAR)
NCT03983629	Not specified	UNKNOWN	Registry of Congenital Dyserythropoietic Anemia
NCT06213402	Not specified	RECRUITING	RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs)
NCT07206095	Not specified	RECRUITING	Integrative Diagnosis for SCD and Other RADs