UBAC2

Summary

UBAC2 (UBA domain containing 2, HGNC:20486) is a protein-coding gene on chromosome 13q32.3, encoding Ubiquitin-associated domain-containing protein 2 (Q8NBM4). Restricts trafficking of FAF2 from the endoplasmic reticulum to lipid droplets.

Predicted to enable serine-type endopeptidase activity. Involved in negative regulation of canonical Wnt signaling pathway and negative regulation of retrograde protein transport, ER to cytosol. Acts upstream of or within protein localization to endoplasmic reticulum. Located in endoplasmic reticulum.

Source: NCBI Gene 337867 — RefSeq curated summary.

At a glance

• GWAS associations: 26
• Clinical variants (ClinVar): 75 total
• Phenotypes (HPO): 85
• MANE Select transcript: NM_001144072

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20486
Approved symbol	UBAC2
Name	UBA domain containing 2
Location	13q32.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ30548, RP11-178C10.1
Ensembl gene	ENSG00000134882
Ensembl biotype	protein_coding
Entrez	337867

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 18 protein_coding, 6 protein_coding_CDS_not_defined

ENST00000355700, ENST00000376440, ENST00000403766, ENST00000457666, ENST00000460562, ENST00000468067, ENST00000473091, ENST00000473194, ENST00000474510, ENST00000480738, ENST00000494576, ENST00000858721, ENST00000858722, ENST00000858723, ENST00000858724, ENST00000858725, ENST00000858726, ENST00000858727, ENST00000927465, ENST00000961154, ENST00000961155, ENST00000961156, ENST00000961157, ENST00000961158

RefSeq mRNA: 2 — MANE Select: NM_001144072 NM_001144072, NM_177967

CCDS: CCDS45064, CCDS9490

Canonical transcript exons

ENST00000403766 — 9 exons

Exon	Start	End
ENSE00001936763	99385228	99386504
ENSE00003501202	99318022	99318069
ENSE00003510287	99340320	99340565
ENSE00003610485	99238427	99238554
ENSE00003619832	99243832	99243951
ENSE00003676079	99367787	99367906
ENSE00003686113	99314097	99314220
ENSE00003791603	99244515	99244624
ENSE00003891957	99200854	99200939

Expression profiles

Bgee: expression breadth ubiquitous, 238 present calls, max score 96.41.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.2201 / max 210.0921, expressed in 1821 samples.

FANTOM5 promoters (15 alternative TSS)

Promoter ID	TPM avg	Samples expressed
135792	16.6437	1806
135793	16.5517	1795
135791	2.7665	1482
135790	0.9993	628
135810	0.9849	152
135809	0.7606	130
135812	0.1843	54
135813	0.0957	42
135807	0.0625	36
135814	0.0431	18

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	96.41	gold quality
upper arm skin	UBERON:0004263	95.24	gold quality
skin of abdomen	UBERON:0001416	95.09	gold quality
skin of leg	UBERON:0001511	95.01	gold quality
stromal cell of endometrium	CL:0002255	94.99	gold quality
granulocyte	CL:0000094	94.79	gold quality
esophagus mucosa	UBERON:0002469	94.63	gold quality
mucosa of transverse colon	UBERON:0004991	94.58	gold quality
leukocyte	CL:0000738	94.54	gold quality
monocyte	CL:0000576	94.47	gold quality
gastrocnemius	UBERON:0001388	94.40	gold quality
muscle of leg	UBERON:0001383	94.31	gold quality
apex of heart	UBERON:0002098	94.30	gold quality
colonic epithelium	UBERON:0000397	94.10	gold quality
zone of skin	UBERON:0000014	93.84	gold quality
hindlimb stylopod muscle	UBERON:0004252	93.70	gold quality
esophagus	UBERON:0001043	93.05	gold quality
left testis	UBERON:0004533	93.00	gold quality
gall bladder	UBERON:0002110	92.91	gold quality
right testis	UBERON:0004534	92.81	gold quality
islet of Langerhans	UBERON:0000006	92.79	gold quality
right lobe of liver	UBERON:0001114	92.53	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	92.35	gold quality
minor salivary gland	UBERON:0001830	92.03	gold quality
smooth muscle tissue	UBERON:0001135	92.00	gold quality
blood	UBERON:0000178	91.84	gold quality
transverse colon	UBERON:0001157	91.82	gold quality
tonsil	UBERON:0002372	91.79	gold quality
ectocervix	UBERON:0012249	91.74	gold quality
mouth mucosa	UBERON:0003729	91.71	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

54 targeting UBAC2, 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-429	100.00	73.44	2698
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-4470	99.66	69.35	1767
HSA-MIR-5700	99.64	69.88	2280
HSA-MIR-5197-5P	99.64	69.08	1494
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-4516	99.61	67.78	3390

Literature-anchored findings (GeneRIF, showing 4)

• We established and confirmed the genetic association between UBAC2 and Behcet’s disease in 3 independent sets of patients and controls (PMID:21918955)
• UBAC2 is associated with Behcet’s disease in Chinese patients and implicates its involvement in transcriptional modulation. (PMID:22455605)
• UBAC2 promotes bladder cancer proliferation through BCRC-3/miRNA-182-5p/p27 axis. (PMID:32913183)
• Association between UBAC2 gene polymorphism and the risk of noise-induced hearing loss: a cross-sectional study. (PMID:35020141)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ubac2	ENSDARG00000093065
mus_musculus	Ubac2	ENSMUSG00000041765
rattus_norvegicus	Ubac2	ENSRNOG00000012710
drosophila_melanogaster	rngo	FBGN0030753
caenorhabditis_elegans		WBGENE00015308

Paralogs (4): NRIP2 (ENSG00000053702), DDI1 (ENSG00000170967), NRIP3 (ENSG00000175352), DDI2 (ENSG00000197312)

Protein

Protein identifiers

Ubiquitin-associated domain-containing protein 2 — Q8NBM4 (reviewed: Q8NBM4)

Alternative names: Phosphoglycerate dehydrogenase-like protein 1

All UniProt accessions (4): A0A087WXT1, Q8NBM4, Q5JUH4, X6R5E5

UniProt curated annotations — full annotation on UniProt →

Function. Restricts trafficking of FAF2 from the endoplasmic reticulum to lipid droplets. In association with LMBR1L and E3 ubiquitin-protein ligase AMFR, negatively regulates the canonical Wnt signaling pathway in the lymphocytes by promoting the ubiquitin-mediated degradation of CTNNB1 and Wnt receptors FZD6 and LRP6.

Subunit / interactions. Interacts with FAF2. Interacts with LMBR1L. Interacts with AMFR and VCP.

Subcellular location. Endoplasmic reticulum membrane.

Isoforms (5)

UniProt ID	Names	Canonical?
Q8NBM4-1	1	yes
Q8NBM4-2	2
Q8NBM4-3	3
Q8NBM4-4	4
Q8NBM4-5	5

RefSeq proteins (2): NP_001137544, NP_808882 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009060	UBA-like_sf	Homologous_superfamily
IPR015940	UBA	Domain
IPR035952	Rhomboid-like_sf	Homologous_superfamily
IPR041928	UBA_UBAC2	Domain

Pfam: PF00627

UniProt features (17 total): splice variant 6, topological domain 4, transmembrane region 3, signal peptide 1, chain 1, glycosylation site 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NBM4-F1	72.34	0.10

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (1): 161

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 361 (showing top): GOBP_ENDOPLASMIC_RETICULUM_TO_CYTOSOL_TRANSPORT, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_PROTEIN_LOCALIZATION_TO_ENDOPLASMIC_RETICULUM, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT, GGGCATT_MIR365, GOBP_NEGATIVE_REGULATION_OF_TRANSPORT, GOBP_CANONICAL_WNT_SIGNALING_PATHWAY, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, GOBP_NEGATIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION, GOBP_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT

GO Biological Process (4): Wnt signaling pathway (GO:0016055), protein localization to endoplasmic reticulum (GO:0070972), negative regulation of canonical Wnt signaling pathway (GO:0090090), negative regulation of retrograde protein transport, ER to cytosol (GO:1904153)

GO Molecular Function (2): serine-type endopeptidase activity (GO:0004252), protein binding (GO:0005515)

GO Cellular Component (3): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell surface receptor signaling pathway	1
protein localization to organelle	1
negative regulation of Wnt signaling pathway	1
canonical Wnt signaling pathway	1
regulation of canonical Wnt signaling pathway	1
retrograde protein transport, ER to cytosol	1
negative regulation of protein exit from endoplasmic reticulum	1
regulation of retrograde protein transport, ER to cytosol	1
endopeptidase activity	1
serine-type peptidase activity	1
binding	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1

Protein interactions and networks

STRING

981 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UBAC2	FAF2	Q96CS3	898
UBAC2	AMFR	P26442	802
UBAC2	DERL2	Q9GZP9	701
UBAC2	EMC3	Q9P0I2	685
UBAC2	EMC1	Q8N766	675
UBAC2	EMC2	Q15006	618
UBAC2	SYVN1	Q86TM6	588
UBAC2	AUP1	Q9Y679	585
UBAC2	CCDC180	Q9P1Z9	584
UBAC2	RHBDD2	Q6NTF9	573
UBAC2	ERLIN1	O75477	563
UBAC2	RHBDD3	Q9Y3P4	535
UBAC2	HM13	Q8TCT9	532
UBAC2	ERLIN2	O94905	523
UBAC2	SEL1L	Q9UBV2	513

IntAct

122 interactions, top by confidence:

A	B	Type	Score
TSPAN5	ADAM10	psi-mi:“MI:0914”(association)	0.800
IFT70B	IFT56	psi-mi:“MI:0914”(association)	0.790
UBAC2	FAF2	psi-mi:“MI:0915”(physical association)	0.710
UBAC2	FAF2	psi-mi:“MI:0914”(association)	0.710
FAF2	UBAC2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
VCP	UBXN8	psi-mi:“MI:0914”(association)	0.690
CFTR	HAX1	psi-mi:“MI:0914”(association)	0.610
CALCOCO2	UBAC2	psi-mi:“MI:0915”(physical association)	0.560
UBAC2	CALCOCO2	psi-mi:“MI:0915”(physical association)	0.560
SLC39A4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
CLEC11A	VWA8	psi-mi:“MI:0914”(association)	0.530
TBC1D15	UBXN8	psi-mi:“MI:0914”(association)	0.530
TMEM31	PSMD11	psi-mi:“MI:0914”(association)	0.530
APLNR	SLC33A1	psi-mi:“MI:0914”(association)	0.530
SIDT2	AP3D1	psi-mi:“MI:0914”(association)	0.530
TMEM63A	AP3D1	psi-mi:“MI:0914”(association)	0.530
TBC1D15	MYO9A	psi-mi:“MI:0914”(association)	0.530
ATP1A3	AGPAT2	psi-mi:“MI:0914”(association)	0.530
UBAC2	AMFR	psi-mi:“MI:0403”(colocalization)	0.430
PTEN	UBAC2	psi-mi:“MI:0915”(physical association)	0.400
Itgb1	SSR3	psi-mi:“MI:0914”(association)	0.350
Rab5c		psi-mi:“MI:0914”(association)	0.350
ATP6AP2	TMUB1	psi-mi:“MI:0914”(association)	0.350
Get4	BAG6	psi-mi:“MI:0914”(association)	0.350
Tmed2		psi-mi:“MI:0914”(association)	0.350

BioGRID (260): UBAC2 (Two-hybrid), UBAC2 (Affinity Capture-MS), TUBA8 (Affinity Capture-MS), TUBB7P (Affinity Capture-MS), VDAC1 (Affinity Capture-MS), HNRNPM (Affinity Capture-MS), TBC1D15 (Affinity Capture-MS), ANK2 (Affinity Capture-MS), EMD (Affinity Capture-MS), RAB7A (Affinity Capture-MS), RPL10 (Affinity Capture-MS), HM13 (Affinity Capture-MS), EMC2 (Affinity Capture-MS), AMFR (Affinity Capture-MS), KMT2D (Affinity Capture-MS)

ESM2 similar proteins: A0M8T1, A3KN28, A4D7R9, A9JRA0, D3ZEH5, F1MK05, O60337, Q07DV5, Q07DW9, Q07E45, Q09YH4, Q09YI5, Q09YJ7, Q09YK8, Q0VCK9, Q108U3, Q28DS3, Q2HJD0, Q2IBE0, Q2IBE8, Q2QL86, Q2QLA6, Q2QLB7, Q2QLD7, Q2QLE8, Q2TBU2, Q3SZ48, Q3TDN2, Q4R910, Q4V888, Q5PPX5, Q5R9W1, Q68FW3, Q6GM44, Q6NYF1, Q6P4H8, Q6ZQ89, Q7SZN2, Q86TM6, Q8CBG9

Diamond homologs: Q4R910, Q5ZJQ8, Q8NBM4, Q8R1K1, Q8RXQ2, B0Y6Z7, Q4WQ60

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 167 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
Defective CFTR causes cystic fibrosis	9	18.5×	6e-07
AMPK-induced ERAD and lysosome mediated degradation of PD-L1(CD274)	8	14.5×	2e-05
Hh mutants are degraded by ERAD	5	11.3×	5e-03
Regulation of PTEN stability and activity	6	10.3×	2e-03
ABC-family protein mediated transport	9	10.2×	3e-05
Hedgehog ligand biogenesis	5	9.9×	6e-03
Disorders of transmembrane transporters	6	7.8×	5e-03
SLC-mediated transmembrane transport	9	5.0×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
ERAD pathway	12	15.1×	2e-08
transmembrane transport	11	12.9×	4e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	6
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2855 predictions. Top by Δscore:

Variant	Effect	Δscore
13:99200935:GCTCT:G	donor_gain	1.0000
13:99200937:TCT:T	donor_gain	1.0000
13:99200937:TCTG:T	donor_loss	1.0000
13:99200939:TG:T	donor_loss	1.0000
13:99200940:G:GG	donor_gain	1.0000
13:99200940:GTGA:G	donor_loss	1.0000
13:99238423:CCA:C	acceptor_loss	1.0000
13:99238423:CCAGA:C	acceptor_gain	1.0000
13:99238424:CAGAC:C	acceptor_gain	1.0000
13:99238425:A:AG	acceptor_gain	1.0000
13:99238425:A:C	acceptor_loss	1.0000
13:99238425:AGACA:A	acceptor_gain	1.0000
13:99238426:G:GT	acceptor_gain	1.0000
13:99238426:GAC:G	acceptor_gain	1.0000
13:99238426:GACA:G	acceptor_gain	1.0000
13:99238426:GACAA:G	acceptor_gain	1.0000
13:99238551:CCAGG:C	donor_loss	1.0000
13:99238553:AGG:A	donor_loss	1.0000
13:99238554:GGT:G	donor_loss	1.0000
13:99238555:G:GG	donor_gain	1.0000
13:99238555:GTAA:G	donor_loss	1.0000
13:99238556:T:A	donor_loss	1.0000
13:99243949:GCA:G	donor_gain	1.0000
13:99243952:G:GG	donor_gain	1.0000
13:99255907:C:CC	acceptor_gain	1.0000
13:99258148:GCTTA:G	donor_loss	1.0000
13:99258149:CTTA:C	donor_loss	1.0000
13:99258150:TTACC:T	donor_loss	1.0000
13:99258151:TACCT:T	donor_loss	1.0000
13:99258152:ACCT:A	donor_gain	1.0000

AlphaMissense

2253 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:99385238:T:C	L313P	1.000
13:99385253:T:C	F318S	1.000
13:99385238:T:A	L313H	0.999
13:99385252:T:C	F318L	0.999
13:99385254:T:A	F318L	0.999
13:99385254:T:G	F318L	0.999
13:99385280:T:C	L327P	0.999
13:99385310:C:A	A337D	0.999
13:99385322:T:C	L341P	0.999
13:99385247:T:C	M316T	0.998
13:99385249:G:A	G317R	0.998
13:99385249:G:C	G317R	0.998
13:99385253:T:G	F318C	0.998
13:99385276:G:C	A326P	0.998
13:99385325:T:C	L342P	0.998
13:99385250:G:A	G317E	0.997
13:99385280:T:A	L327Q	0.997
13:99385309:G:C	A337P	0.997
13:99385322:T:A	L341Q	0.997
13:99243923:A:T	E84V	0.996
13:99385268:C:A	A323D	0.996
13:99385277:C:A	A326D	0.996
13:99385288:T:C	S330P	0.996
13:99243924:A:C	E84D	0.995
13:99243924:A:T	E84D	0.995
13:99318065:G:A	G186E	0.995
13:99385248:G:A	M316I	0.995
13:99385248:G:C	M316I	0.995
13:99385248:G:T	M316I	0.995
13:99385250:G:T	G317V	0.995

dbSNP variants (sampled 300 via entrez): RS1000028324 (13:99342281 C>A,T), RS1000040063 (13:99306387 A>G), RS1000044259 (13:99213689 G>C), RS1000052114 (13:99278914 A>T), RS1000085605 (13:99365727 A>G), RS1000089311 (13:99381249 T>G), RS1000089821 (13:99378265 G>T), RS1000090102 (13:99257979 A>C,G), RS1000114992 (13:99213329 A>C,G), RS1000129033 (13:99246785 A>C), RS1000131742 (13:99300252 C>T), RS1000166003 (13:99293308 C>G), RS1000168266 (13:99332659 C>A,T), RS1000176459 (13:99199790 T>C), RS1000176799 (13:99342275 C>G,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

85 total (30 of 85 shown, HPO-id order):

HPO	Term
HP:0000031	Epididymitis
HP:0000083	Renal insufficiency
HP:0000099	Glomerulonephritis
HP:0000155	Oral ulcer
HP:0000488	Retinopathy
HP:0000518	Cataract
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000708	Atypical behavior
HP:0000737	Irritability
HP:0001061	Acne
HP:0001097	Keratoconjunctivitis sicca
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001269	Hemiparesis
HP:0001287	Meningitis
HP:0001288	Gait disturbance
HP:0001289	Confusion
HP:0001347	Hyperreflexia
HP:0001369	Arthritis
HP:0001482	Subcutaneous nodule
HP:0001637	Abnormal myocardium morphology
HP:0001653	Mitral regurgitation
HP:0001658	Myocardial infarction
HP:0001659	Aortic regurgitation
HP:0001701	Pericarditis
HP:0001733	Pancreatitis
HP:0001744	Splenomegaly
HP:0001824	Weight loss
HP:0001945	Fever

GWAS associations

26 associations (top):

Study	Trait	p-value
GCST001124_3	Basal cell carcinoma	3.000000e-08
GCST004131_117	Inflammatory bowel disease	1.000000e-06
GCST004346_56	Psoriasis	4.000000e-08
GCST004600_14	Eosinophil percentage of white cells	1.000000e-17
GCST004606_76	Eosinophil count	1.000000e-18
GCST004617_150	Eosinophil percentage of granulocytes	5.000000e-15
GCST004623_64	Neutrophil percentage of granulocytes	1.000000e-12
GCST004624_151	Sum eosinophil basophil counts	2.000000e-16
GCST005537_115	Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy)	9.000000e-10
GCST007798_154	Asthma	3.000000e-17
GCST007800_78	Asthma (childhood onset)	5.000000e-20
GCST007941_9	Medication use (adrenergics, inhalants)	7.000000e-12
GCST007995_42	Asthma (childhood onset)	5.000000e-13
GCST008916_6	Asthma	4.000000e-13
GCST009181_13	Cuneus cortex volume	4.000000e-06
GCST009391_227	Metabolite levels	7.000000e-06
GCST009720_58	Asthma	8.000000e-17
GCST009798_86	Asthma	3.000000e-16
GCST010042_9	Asthma	9.000000e-19
GCST010043_65	Asthma	8.000000e-20
GCST011096_10	Systemic lupus erythematosus	2.000000e-13
GCST011541_2	Tinnitus	6.000000e-08
GCST012073_19	Behcet’s disease	8.000000e-06
GCST90002381_588	Eosinophil count	2.000000e-25
GCST90002382_212	Eosinophil percentage of white cells	2.000000e-28
GCST90011866_20	Systemic lupus erythematosus	8.000000e-10

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0007991	eosinophil percentage of leukocytes
EFO:0004842	eosinophil count
EFO:0007996	eosinophil percentage of granulocytes
EFO:0007994	neutrophil percentage of granulocytes
EFO:0005090	basophil count
EFO:0009941	Inhalant adrenergic use measurement
EFO:0010491	glycocholate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment	2
di-n-butylphosphoric acid	affects expression	1
ICG 001	increases expression	1
jinfukang	affects cotreatment, increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	increases abundance, increases expression	1
Atrazine	decreases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dinitrochlorobenzene	affects binding	1
Doxorubicin	decreases expression	1
Gasoline	increases abundance, affects cotreatment, decreases expression	1
Polycyclic Aromatic Hydrocarbons	decreases expression, increases abundance, affects cotreatment	1
Valproic Acid	decreases methylation	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	decreases expression	1
1-Butanol	affects cotreatment, 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_TV44	HAP1 UBAC2 (-) 1	Cancer cell line	Male
CVCL_TV45	HAP1 UBAC2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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