UBASH3A

Summary

UBASH3A (ubiquitin associated and SH3 domain containing A, HGNC:12462) is a protein-coding gene on chromosome 21q22.3, encoding Ubiquitin-associated and SH3 domain-containing protein A (P57075). Interferes with CBL-mediated down-regulation and degradation of receptor-type tyrosine kinases.

This gene encodes one of two family members belonging to the T-cell ubiquitin ligand (TULA) family. Both family members can negatively regulate T-cell signaling. This family member can facilitate growth factor withdrawal-induced apoptosis in T cells, which may occur via its interaction with AIF, an apoptosis-inducing factor. Alternative splicing of this gene results in multiple transcript variants.

Source: NCBI Gene 53347 — RefSeq curated summary.

At a glance

• GWAS associations: 28
• Clinical variants (ClinVar): 254 total
• Druggable target: yes
• MANE Select transcript: NM_018961

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12462
Approved symbol	UBASH3A
Name	ubiquitin associated and SH3 domain containing A
Location	21q22.3
Locus type	gene with protein product
Status	Approved
Aliases	STS-2, TULA, CLIP4
Ensembl gene	ENSG00000160185
Ensembl biotype	protein_coding
OMIM	605736
Entrez	53347

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 4 protein_coding, 4 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000291535, ENST00000319294, ENST00000398367, ENST00000473381, ENST00000634453, ENST00000634718, ENST00000635108, ENST00000635189, ENST00000635325

RefSeq mRNA: 3 — MANE Select: NM_018961 NM_001001895, NM_001243467, NM_018961

CCDS: CCDS13687, CCDS33566, CCDS58791

Canonical transcript exons

ENST00000319294 — 15 exons

Exon	Start	End
ENSE00001050381	42437488	42437580
ENSE00001050389	42413410	42413523
ENSE00001259600	42447057	42447684
ENSE00001259628	42434832	42434954
ENSE00001884887	42403902	42404058
ENSE00003471164	42442452	42442596
ENSE00003563179	42416442	42416611
ENSE00003568239	42432103	42432202
ENSE00003583784	42406308	42406361
ENSE00003588403	42409422	42409608
ENSE00003593464	42443312	42443418
ENSE00003601029	42426697	42426820
ENSE00003658789	42413024	42413222
ENSE00003665179	42444534	42444643
ENSE00003689328	42418401	42418609

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 88.11.

FANTOM5 (CAGE): breadth broad, TPM avg 4.5301 / max 404.8842, expressed in 199 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
189300	4.3311	196
189299	0.1547	67
189298	0.0443	25

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	88.11	gold quality
blood	UBERON:0000178	80.07	gold quality
lymph node	UBERON:0000029	79.90	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.88	gold quality
thymus	UBERON:0002370	75.21	gold quality
spleen	UBERON:0002106	72.88	gold quality
vermiform appendix	UBERON:0001154	72.61	gold quality
gall bladder	UBERON:0002110	69.51	gold quality
caecum	UBERON:0001153	67.39	gold quality
small intestine Peyer’s patch	UBERON:0003454	65.20	gold quality
rectum	UBERON:0001052	64.13	gold quality
small intestine	UBERON:0002108	63.99	gold quality
tonsil	UBERON:0002372	63.79	gold quality
colonic epithelium	UBERON:0000397	63.21	silver quality
right coronary artery	UBERON:0001625	62.13	gold quality
duodenum	UBERON:0002114	61.05	gold quality
bone marrow	UBERON:0002371	60.82	gold quality
mucosa of transverse colon	UBERON:0004991	60.71	gold quality
amniotic fluid	UBERON:0000173	60.67	silver quality
bone marrow cell	CL:0002092	60.32	silver quality
right uterine tube	UBERON:0001302	59.63	gold quality
palpebral conjunctiva	UBERON:0001812	59.28	silver quality
upper lobe of left lung	UBERON:0008952	58.44	gold quality
cerebellar vermis	UBERON:0004720	57.25	gold quality
upper lobe of lung	UBERON:0008948	56.66	gold quality
decidua	UBERON:0002450	56.55	gold quality
jejunal mucosa	UBERON:0000399	56.41	silver quality
leukocyte	CL:0000738	56.09	gold quality
body of stomach	UBERON:0001161	55.79	gold quality
omental fat pad	UBERON:0010414	55.37	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.76
E-MTAB-4850	no	587.42

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

23 targeting UBASH3A, 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-450A-1-3P	100.00	69.33	1837
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-889-5P	99.41	68.75	1025
HSA-MIR-135A-5P	99.36	71.85	1601
HSA-MIR-135B-5P	99.36	71.63	1613
HSA-MIR-1912-3P	99.32	67.40	936
HSA-MIR-580-5P	99.28	70.94	1776
HSA-MIR-4795-5P	99.11	66.90	876
HSA-MIR-1295B-5P	99.03	67.50	810
HSA-MIR-7153-3P	99.00	65.35	608
HSA-MIR-655-5P	98.74	65.93	888
HSA-MIR-4752	98.71	68.04	833
HSA-MIR-6502-3P	97.86	65.43	569
HSA-MIR-924	97.78	66.21	681
HSA-MIR-711	96.60	65.75	528
HSA-MIR-591	96.29	68.16	611
HSA-MIR-8071	95.69	64.93	484
HSA-MIR-6777-3P	95.35	64.30	699
HSA-MIR-548AD-3P	94.39	66.04	350
HSA-MIR-4497	92.25	64.06	134

Literature-anchored findings (GeneRIF, showing 20)

• Sts-1 and Sts-2 bind to Cbl and inhibit endocytosis of receptor tyrosine kinases (PMID:15159412)
• TULA inhibits both clathrin-dependent and clathrin-independent endocytic pathways by functionally sequestering dynamin via the SH3 domain of TULA binding proline-rich sequences in dynamin (PMID:17382318)
• TULA enhances the apoptotic effect of AIF by facilitating the interactions of AIF with its apoptotic co-factors (PMID:17709377)
• Binds to ABCE-1 and inhibits HIV-1 life cycle, most likely by disrupting essential ubiquitylation-dependent events. (PMID:18006034)
• TULA proteins TULA and TULA-2 regulate activity of the protein tyrosine kinase Syk (PMID:18189269)
• The UBASH3A promoter is activated by serum depletion according to promoter reporter assays in HEK 293 cells. (PMID:20494980)
• ubiquitin associated and SH3 domain containing A appears to be an independent predictor of islet autoimmunity and type 1 diabetes in children, including those free of family history of T1D but carrying the HLA-DR3/4,DQB1*0302 genotype (PMID:22776074)
• Results suggest that UBASH3a gene plays a role in the susceptibility to systemic lupus erythematosus and UBASH3a can be considered as a common genetic factor in autoimmune diseases. (PMID:23565265)
• Addition of PTPN22 and UBASH3A SNPs to HLA-DR,DQ genotyping can improve type 1 diabetes risk prediction. (PMID:25075402)
• these results have suggested that the allele A of two SNPs may play no role in the pathogenesis of autoimmune thyroid disease or that its effect may be confounded by other various factors. (PMID:25211447)
• Findings suggest that UBASH3A gene might contribute to systemic lupus erythematosus susceptibility and influence the clinical phenotype of the disease. (PMID:25843625)
• A negative correlation was found between UBASH3A mRNA expression and systemic lupus erythematosus. (PMID:25876712)
• UBASH3A attenuates the NF-kappaB signal transduction upon T-cell receptor (TCR) stimulation by specifically suppressing the activation of the IkappaB kinase complex. UBASH3A interacts with TAK1 and NEMO, suggesting that UBASH3A regulates the NF-kappaB signaling pathway by an ubiquitin-dependent mechanism. T1D risk alleles at rs11203203 and rs80054410 increase UBASH3A expression in CD4(+) T cells upon TCR stimulation. (PMID:28607106)
• UBASH3A gene SNP is associated with susceptibility to atopic dermatitis in Chinese Han population. (PMID:28747736)
• this reduction in UBASH3A, as a consequence of the minor allele at rs1893592, resulted in increased secretion of IL-2, a key cytokine that is required for T-cell activation and function but is deficient in some type 1 diabetes (T1D). Our study provides new mechanistic insights into how rs1893592 affects T1D and autoimmunity and how interactions between multiple T1D-associated, noncoding variants influence the disease risk (PMID:29491471)
• observations suggested that the dysregulation of UBASH3A might be associated with the pathogenesis of rheumatoid arthritis (RA), and UBASH3A gene polymorphisms (rs1893592 and rs3788013) might contribute to RA susceptibility in Chinese Han population. (PMID:30822156)
• Upon TCR engagement, UBASH3A enhances the downmodulation of cell-surface TCR-CD3. (PMID:31659016)
• CRKL, AIFM3, AIF, BCL2, and UBASH3A during Human Kidney Development. (PMID:34502088)
• Replication of association at the LPP and UBASH3A loci in a UK autoimmune Addison’s disease cohort. (PMID:36651163)
• FLI1 induces erythroleukemia through opposing effects on UBASH3A and UBASH3B expression. (PMID:38461240)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ubash3a	ENSMUSG00000042345
rattus_norvegicus	Ubash3a	ENSRNOG00000001167
drosophila_melanogaster	Epp	FBGN0039137
caenorhabditis_elegans		WBGENE00020321

Paralogs (1): UBASH3B (ENSG00000154127)

Protein

Protein identifiers

Ubiquitin-associated and SH3 domain-containing protein A — P57075 (reviewed: P57075)

Alternative names: Cbl-interacting protein 4, Suppressor of T-cell receptor signaling 2, T-cell ubiquitin ligand 1

All UniProt accessions (6): P57075, A0A0U1RQL4, A0A0U1RQY9, A0A0U1RR03, A0A0U1RR38, A0A0U1RRC9

UniProt curated annotations — full annotation on UniProt →

Function. Interferes with CBL-mediated down-regulation and degradation of receptor-type tyrosine kinases. Promotes accumulation of activated target receptors, such as T-cell receptors, EGFR and PDGFRB, on the cell surface. Exhibits negligible protein tyrosine phosphatase activity at neutral pH. May act as a dominant-negative regulator of UBASH3B-dependent dephosphorylation. May inhibit dynamin-dependent endocytic pathways by functionally sequestering dynamin via its SH3 domain.

Subunit / interactions. Homodimer or homooligomer. Interacts with CBL. Part of a complex containing CBL and activated EGFR. Interacts with ubiquitin and with mono-ubiquitinated proteins. Interacts with dynamin.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Highest expression of UBASH3A in tissues belonging to the immune system, including spleen, peripheral blood leukocytes, thymus and bone marrow.

Isoforms (3)

UniProt ID	Names	Canonical?
P57075-1	1, Long	yes
P57075-2	2, Short
P57075-3	3

RefSeq proteins (3): NP_001001895, NP_001230396, NP_061834* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001452	SH3_domain	Domain
IPR009060	UBA-like_sf	Homologous_superfamily
IPR013078	His_Pase_superF_clade-1	Family
IPR015940	UBA	Domain
IPR029033	His_PPase_superfam	Homologous_superfamily
IPR035634	UBASH3A_SH3	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR051710	Phosphatase_SH3-domain	Family

Pfam: PF00300, PF14604, PF22562

UniProt features (47 total): helix 17, strand 7, sequence variant 6, sequence conflict 6, splice variant 3, domain 2, mutagenesis site 2, turn 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
5WDI	X-RAY DIFFRACTION	2.43
2CRN	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P57075-F1	82.62	0.63

Functional residue map

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

Mutagenesis-validated functional residues (2):

Position	Phenotype
317	loss of interaction with cbl.
317	abolishes binding to dynamin.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 325 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, GOBP_REGULATION_OF_T_CELL_RECEPTOR_SIGNALING_PATHWAY, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, GOBP_REGULATION_OF_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_CYTOPLASMIC_MICROTUBULE_ORGANIZATION, BENPORATH_ES_WITH_H3K27ME3, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, TATTATA_MIR374, DOANE_BREAST_CANCER_CLASSES_DN, FERREIRA_EWINGS_SARCOMA_UNSTABLE_VS_STABLE_DN, GOBP_NEGATIVE_REGULATION_OF_T_CELL_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_IMMUNE_RESPONSE, VERNELL_RETINOBLASTOMA_PATHWAY_DN, MARTINEZ_RB1_TARGETS_DN

GO Biological Process (2): regulation of cytokine production (GO:0001817), negative regulation of T cell receptor signaling pathway (GO:0050860)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (6): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), nuclear speck (GO:0016607), extracellular exosome (GO:0070062), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytokine production	1
regulation of gene expression	1
regulation of multicellular organismal process	1
T cell receptor signaling pathway	1
regulation of T cell receptor signaling pathway	1
negative regulation of antigen receptor-mediated signaling pathway	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
nuclear ribonucleoprotein granule	1
extracellular vesicle	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1536 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UBASH3A	ZAP70	P43403	894
UBASH3A	CBL	P22681	829
UBASH3A	LCP2	Q13094	824
UBASH3A	PTPN22	Q9Y2R2	624
UBASH3A	GRAP	Q13588	591
UBASH3A	MAP4K1	Q92918	580
UBASH3A	PGAM1	P18669	573
UBASH3A	C1QTNF6	Q9BXI9	571
UBASH3A	PGAM4	Q8N0Y7	565
UBASH3A	SH2B3	Q9UQQ2	546
UBASH3A	PLCG1	P19174	545
UBASH3A	CLEC16A	Q2KHT3	544
UBASH3A	CD6	P30203	536
UBASH3A	TMPRSS3	P57727	535
UBASH3A	BACH2	Q9BYV9	528

IntAct

55 interactions, top by confidence:

A	B	Type	Score
SPRY2	UBASH3A	psi-mi:“MI:0915”(physical association)	0.670
UBASH3A	CBS	psi-mi:“MI:0915”(physical association)	0.670
DAZAP2	UBASH3A	psi-mi:“MI:0915”(physical association)	0.670
CBS	UBASH3A	psi-mi:“MI:0915”(physical association)	0.670
UBASH3A	SPRY2	psi-mi:“MI:0915”(physical association)	0.670
TRIM37	UBASH3A	psi-mi:“MI:0915”(physical association)	0.560
REL	UBASH3A	psi-mi:“MI:0915”(physical association)	0.560
TP53BP2	UBASH3A	psi-mi:“MI:0915”(physical association)	0.560
SF3B4	UBASH3A	psi-mi:“MI:0915”(physical association)	0.560
KRT40	UBASH3A	psi-mi:“MI:0915”(physical association)	0.560
KCNE1	UBASH3A	psi-mi:“MI:0915”(physical association)	0.560
UBASH3A	REL	psi-mi:“MI:0915”(physical association)	0.560
UBASH3A	KRT40	psi-mi:“MI:0915”(physical association)	0.560
UBASH3A	KCNE1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (166): UBASH3A (Two-hybrid), UBASH3A (Two-hybrid), UBASH3A (Two-hybrid), UBASH3A (Two-hybrid), UBASH3A (Two-hybrid), UBASH3A (Two-hybrid), UBASH3A (Two-hybrid), UBASH3A (Two-hybrid), KRT40 (Two-hybrid), UBASH3A (Reconstituted Complex), UBASH3A (Affinity Capture-Western), UBASH3A (Two-hybrid), DAZAP2 (Two-hybrid), UBASH3A (Affinity Capture-Western), UBASH3A (Reconstituted Complex)

ESM2 similar proteins: A0JPF9, A4D126, A4D7T3, A4QNL8, A5PKL6, B2GUS6, C0IN03, E1BCH6, E1BVR9, F1LW30, F1ND48, P19686, P19687, P33402, P48760, P57075, Q02108, Q07DZ7, Q08C84, Q09M05, Q108U1, Q1L5Z9, Q1LZ50, Q28CZ7, Q32PY6, Q3U3W5, Q3UY23, Q4R3W5, Q4ZHS0, Q5REW9, Q5RG49, Q5RJG7, Q5RL51, Q5S6T3, Q5T8I9, Q6GPJ4, Q6NXP6, Q6P2P2, Q7SXA9, Q8BTK5

Diamond homologs: A1CEK6, A1DFN5, A2QW93, A4FU49, A6QLK6, A7A261, A7E3N7, B1V8A0, M0R4F8, O35179, O35180, O35413, O35964, O42287, O60504, O70145, O75886, O76041, O77506, O77775, O93436, O94875, P02549, P10569, P15498, P19706, P19878, P27870, P29355, P32793, P43603, P52735, P54100, P57075, P70297, P97369, Q08DN7, Q0CJU8, Q0U6X7, Q13588

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	206
Likely benign	13
Benign	9

Top pathogenic / likely-pathogenic (0)

SpliceAI

5778 predictions. Top by Δscore:

Variant	Effect	Δscore
21:42404054:ACCGC:A	donor_gain	1.0000
21:42404055:CCGC:C	donor_gain	1.0000
21:42404057:GC:G	donor_gain	1.0000
21:42404059:G:GG	donor_gain	1.0000
21:42406303:TGCAG:T	acceptor_loss	1.0000
21:42406304:GCAGG:G	acceptor_loss	1.0000
21:42406305:CAGGC:C	acceptor_loss	1.0000
21:42406359:CTGG:C	donor_loss	1.0000
21:42406362:G:GA	donor_loss	1.0000
21:42406362:G:GG	donor_gain	1.0000
21:42406363:T:A	donor_loss	1.0000
21:42413019:CTTA:C	acceptor_loss	1.0000
21:42413021:TAGT:T	acceptor_loss	1.0000
21:42413022:A:AG	acceptor_gain	1.0000
21:42413022:A:G	acceptor_loss	1.0000
21:42413022:AGT:A	acceptor_gain	1.0000
21:42413023:G:GT	acceptor_gain	1.0000
21:42413023:GT:G	acceptor_gain	1.0000
21:42413023:GTG:G	acceptor_gain	1.0000
21:42413023:GTGT:G	acceptor_gain	1.0000
21:42413204:G:GT	donor_gain	1.0000
21:42413204:G:T	donor_gain	1.0000
21:42413222:G:GA	donor_loss	1.0000
21:42413224:T:G	donor_loss	1.0000
21:42416431:T:A	acceptor_gain	1.0000
21:42418397:CTA:C	acceptor_loss	1.0000
21:42418398:TAGAC:T	acceptor_loss	1.0000
21:42418399:A:AG	acceptor_gain	1.0000
21:42418399:A:C	acceptor_loss	1.0000
21:42418400:G:GC	acceptor_gain	1.0000

AlphaMissense

4347 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:42416564:T:A	W264R	1.000
21:42416564:T:C	W264R	1.000
21:42416495:T:C	F241L	0.999
21:42416497:C:A	F241L	0.999
21:42416497:C:G	F241L	0.999
21:42416566:G:C	W264C	0.999
21:42416566:G:T	W264C	0.999
21:42416586:G:C	R271P	0.999
21:42409481:T:A	L76H	0.998
21:42409487:T:C	L78P	0.998
21:42409592:T:A	L113H	0.998
21:42418447:T:C	L295P	0.998
21:42418512:T:A	W317R	0.998
21:42418512:T:C	W317R	0.998
21:42418521:G:T	G320W	0.998
21:42418522:G:A	G320E	0.998
21:42418596:T:A	W345R	0.998
21:42418596:T:C	W345R	0.998
21:42409474:T:G	Y74D	0.997
21:42409487:T:A	L78H	0.997
21:42409604:T:C	F117S	0.997
21:42413061:T:C	L131P	0.997
21:42416474:C:G	H234D	0.997
21:42416478:T:C	L235P	0.997
21:42416484:T:C	L237S	0.997
21:42416487:C:A	A238D	0.997
21:42416582:T:C	S270P	0.997
21:42416583:C:T	S270F	0.997
21:42418555:T:C	L331P	0.997
21:42432175:T:A	W415R	0.997

dbSNP variants (sampled 300 via entrez): RS1000015408 (21:42411665 C>T), RS1000256693 (21:42406763 T>TTA), RS1000298597 (21:42425829 A>C,G), RS1000383516 (21:42401905 C>T), RS1000394514 (21:42430956 G>A), RS1000432508 (21:42432885 C>A), RS1000546006 (21:42446228 C>T), RS1000599621 (21:42420939 G>A,C), RS1000644895 (21:42416014 C>T), RS1000682784 (21:42420207 T>C), RS1000732276 (21:42427881 C>A), RS1000740499 (21:42436086 G>T), RS1000841482 (21:42431785 C>T), RS1000882382 (21:42439595 C>T), RS1000947011 (21:42437263 G>T)

Disease associations

OMIM: gene MIM:605736 | disease phenotypes: MIM:613014

GenCC curated gene-disease

Mondo (1): neuroblastoma, susceptibility to, 3 (MONDO:0013083)

Orphanet (1): Neuroblastoma (Orphanet:635)

HPO phenotypes

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

GWAS associations

28 associations (top):

Study	Trait	p-value
GCST000244_3	Type 1 diabetes	2.000000e-08
GCST000392_6	Type 1 diabetes	2.000000e-09
GCST000662_7	Vitiligo	1.000000e-09
GCST000987_13	Celiac disease or Rheumatoid arthritis	1.000000e-08
GCST001191_8	Type 1 diabetes	1.000000e-07
GCST002318_174	Rheumatoid arthritis	7.000000e-12
GCST004030_16	Primary sclerosing cholangitis	2.000000e-12
GCST004785_32	Vitiligo	6.000000e-29
GCST005523_37	Celiac disease	3.000000e-09
GCST005536_48	Type 1 diabetes	1.000000e-15
GCST005537_62	Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy)	6.000000e-09
GCST006048_26	Rheumatoid arthritis (ACPA-positive)	8.000000e-11
GCST006479_45	Diverticular disease	4.000000e-06
GCST006959_153	Rheumatoid arthritis	6.000000e-12
GCST006959_26	Rheumatoid arthritis	1.000000e-08
GCST007932_22	Medication use (thyroid preparations)	3.000000e-10
GCST008644_18	Celiac disease and Rheumatoid arthritis	8.000000e-11
GCST009391_1926	Metabolite levels	8.000000e-07
GCST009391_326	Metabolite levels	6.000000e-06
GCST009873_12	Autoimmune traits (pleiotropy)	5.000000e-12
GCST009874_21	Celiac disease	9.000000e-11
GCST009875_19	Type 1 diabetes	2.000000e-09
GCST009875_9	Type 1 diabetes	2.000000e-12
GCST010043_9	Asthma	1.000000e-08
GCST90002381_272	Eosinophil count	1.000000e-10
GCST90002382_547	Eosinophil percentage of white cells	9.000000e-11
GCST90002388_591	Lymphocyte count	2.000000e-10
GCST90011871_8	Addison’s disease	9.000000e-10

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0009959	diverticular disease
EFO:0009933	Thyroid preparation use measurement
EFO:0010461	argininosuccinate measurement
EFO:0010432	triacylglycerol 56:5 measurement
EFO:0004842	eosinophil count
EFO:0007991	eosinophil percentage of leukocytes
EFO:0004587	lymphocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067628 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases expression, affects expression, increases abundance	2
alpha phellandrene	decreases expression	1
triphenyl phosphate	affects expression	1
N-acetyl-4-benzoquinoneimine	affects response to substance	1
aflatoxin B2	increases methylation	1
abrine	increases expression	1
(+)-JQ1 compound	decreases expression	1
Arsenic Trioxide	increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Diuron	decreases expression	1
Estradiol	affects binding, increases expression	1
Nickel	increases expression	1
Ozone	affects expression, increases abundance	1
Silicon Dioxide	increases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	decreases methylation	1
Antirheumatic Agents	decreases expression	1
Particulate Matter	increases expression, increases abundance	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
CHEMBL5541106	Binding	Inhibition of human STS-2 HP domain (396 to 657 residues) phosphatase activity expressed in Escherichia coli BL21 (DE3) incubated for 20 mins by spectrophotometric analysis	Rebamipide and Derivatives are Potent, Selective Inhibitors of Histidine Phosphatase Activity of the Suppressor of T Cell Receptor Signaling Proteins. — J Med Chem

Clinical trials (associated diseases)

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