UACA

Summary

UACA (uveal autoantigen with coiled-coil domains and ankyrin repeats, HGNC:15947) is a protein-coding gene on chromosome 15q23, encoding Uveal autoantigen with coiled-coil domains and ankyrin repeats (Q9BZF9). Regulates APAF1 expression and plays an important role in the regulation of stress-induced apoptosis.

This gene encodes a protein that contains ankyrin repeats and coiled coil domains and likely plays a role in apoptosis. Studies in rodents have implicated the encoded protein in the stimulation of apoptosis and the regulation of mammary gland involution, in which the mammary gland returns to its pre-pregnant state. This protein has also been proposed to negatively regulate apoptosis based on experiments in human cell lines in which the protein was shown to interact with PRKC apoptosis WT1 regulator protein, also known as PAR-4, and inhibit translocation of the PAR-4 receptor. Autoantibodies to this protein have been identified in human patients with panuveitis and Graves’ disease. Differential expression of this gene has been observed in various human cancers.

Source: NCBI Gene 55075 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 239 total
• Druggable target: yes
• MANE Select transcript: NM_018003

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15947
Approved symbol	UACA
Name	uveal autoantigen with coiled-coil domains and ankyrin repeats
Location	15q23
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10128, KIAA1561
Ensembl gene	ENSG00000137831
Ensembl biotype	protein_coding
OMIM	612516
Entrez	55075

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 9 protein_coding, 6 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000322954, ENST00000379983, ENST00000539319, ENST00000558308, ENST00000558758, ENST00000559156, ENST00000559183, ENST00000559206, ENST00000559290, ENST00000560167, ENST00000560441, ENST00000560523, ENST00000560831, ENST00000560951, ENST00000908301, ENST00000932403, ENST00000966074

RefSeq mRNA: 2 — MANE Select: NM_018003 NM_001008224, NM_018003

CCDS: CCDS10235, CCDS32280

Canonical transcript exons

ENST00000322954 — 19 exons

Exon	Start	End
ENSE00001027232	70671965	70672001
ENSE00001027237	70763330	70763558
ENSE00001027238	70671039	70671091
ENSE00001027241	70699527	70699660
ENSE00001936843	70654554	70657127
ENSE00002529733	70664662	70664814
ENSE00002729413	70666724	70669462
ENSE00003469706	70690454	70690511
ENSE00003473767	70676493	70676591
ENSE00003513451	70687750	70687820
ENSE00003530631	70677108	70677140
ENSE00003558239	70678099	70678206
ENSE00003592180	70691299	70691363
ENSE00003599481	70682758	70682795
ENSE00003617095	70660151	70660216
ENSE00003641685	70684265	70684446
ENSE00003652190	70687540	70687646
ENSE00003666698	70679608	70679676
ENSE00003691822	70695017	70695105

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 99.42.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 36.2847 / max 3428.0846, expressed in 1632 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
150732	21.4903	1549
150728	6.0754	665
150733	5.5626	1458
150731	1.3993	648
150730	0.7065	274
150725	0.5983	129
150726	0.2312	75
150727	0.2210	50

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	99.42	gold quality
pancreatic ductal cell	CL:0002079	98.71	gold quality
sural nerve	UBERON:0015488	98.70	gold quality
cardia of stomach	UBERON:0001162	98.69	gold quality
tibial nerve	UBERON:0001323	98.52	gold quality
tendon	UBERON:0000043	98.50	gold quality
renal medulla	UBERON:0000362	98.47	gold quality
ventral tegmental area	UBERON:0002691	98.26	gold quality
pylorus	UBERON:0001166	98.16	gold quality
kidney epithelium	UBERON:0004819	98.13	silver quality
nipple	UBERON:0002030	98.11	gold quality
trigeminal ganglion	UBERON:0001675	98.08	gold quality
subthalamic nucleus	UBERON:0001906	98.04	gold quality
dorsal plus ventral thalamus	UBERON:0001897	98.03	gold quality
inferior vagus X ganglion	UBERON:0005363	98.02	gold quality
medulla oblongata	UBERON:0001896	98.01	gold quality
visceral pleura	UBERON:0002401	97.98	gold quality
lateral globus pallidus	UBERON:0002476	97.98	gold quality
superior surface of tongue	UBERON:0007371	97.94	gold quality
gastrocnemius	UBERON:0001388	97.93	gold quality
trachea	UBERON:0003126	97.92	gold quality
superior vestibular nucleus	UBERON:0007227	97.88	gold quality
buccal mucosa cell	CL:0002336	97.82	gold quality
muscle of leg	UBERON:0001383	97.78	gold quality
lateral nuclear group of thalamus	UBERON:0002736	97.63	gold quality
pons	UBERON:0000988	97.62	gold quality
substantia nigra pars reticulata	UBERON:0001966	97.62	gold quality
dorsal root ganglion	UBERON:0000044	97.57	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.57	gold quality
substantia nigra pars compacta	UBERON:0001965	97.55	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-CURD-135	yes	2044.52
E-MTAB-3929	yes	849.09
E-HCAD-13	yes	247.32
E-HCAD-31	yes	25.23
E-GEOD-84465	yes	9.09
E-CURD-112	yes	8.34
E-HCAD-35	yes	7.26
E-GEOD-130148	yes	4.42
E-HCAD-25	yes	4.29
E-MTAB-10018	no	385.74
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NFKB1

miRNA regulators (miRDB)

117 targeting UACA, 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-9-5P	100.00	72.28	2361
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-548AE-3P	99.93	72.66	4867

Literature-anchored findings (GeneRIF, showing 3)

• UACA is a novel candidate for eye muscle autoantigens in thyroid-associated ophthalmopathy (PMID:15358194)
• The down-regulation of APIP and UACA expression suggests that the threshold to activate the apoptosome apparatus may be decreased in non-small cell lung cancer cells. (PMID:22407486)
• Lycopene inhibits RCAN1-mediated apoptosis by reducing ROS levels and by inhibiting NF-kappaB activation, Nucling induction, and the increase in apoptotic indices in neuronal cells. (PMID:27928873)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	uacab	ENSDARG00000060238
mus_musculus	Uaca	ENSMUSG00000034485
rattus_norvegicus	Uaca	ENSRNOG00000012868

Paralogs (2): ANKRD24 (ENSG00000089847), ASB2 (ENSG00000100628)

Protein

Protein identifiers

Uveal autoantigen with coiled-coil domains and ankyrin repeats — Q9BZF9 (reviewed: Q9BZF9)

All UniProt accessions (5): Q9BZF9, F5H2B9, H0YMI1, H0YN48, H0YNH8

UniProt curated annotations — full annotation on UniProt →

Function. Regulates APAF1 expression and plays an important role in the regulation of stress-induced apoptosis. Promotes apoptosis by regulating three pathways, apoptosome up-regulation, LGALS3/galectin-3 down-regulation and NF-kappa-B inactivation. Regulates the redistribution of APAF1 into the nucleus after proapoptotic stress. Down-regulates the expression of LGALS3 by inhibiting NFKB1. Modulates isoactin dynamics to regulate the morphological alterations required for cell growth and motility. Interaction with ARF6 may modulate cell shape and motility after injury. May be involved in multiple neurite formation.

Subunit / interactions. Component of the apoptosome complex, composed of APAF1, pro-caspase-9 and UACA. In the complex, it probably interacts directly with APAF1. Interacts with LGALS3, ARF6 and ACTB. Interacts with RAB39A.

Subcellular location. Nucleus. Cytoplasm. Cytoskeleton.

Tissue specificity. Highly expressed in skeletal muscle, heart, kidney and pancreas. Expressed in choroid, retina and epidermal melanocytes. Expressed in eye muscles and thyroid follicular cells.

Induction. Up-regulated after TSH stimulation.

Miscellaneous. UACA is a possible target autoantigen in Vogt-Koyanagi-Harada (VKH), Behcet disease (BD) and sarcoidosis that cause different types of panuevitis.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BZF9-1	1	yes
Q9BZF9-2	2

RefSeq proteins (2): NP_001008225, NP_060473* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000727	T_SNARE_dom	Domain
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR042420	RAI14/UACA	Family

Pfam: PF12796

UniProt features (16 total): repeat 6, sequence conflict 2, coiled-coil region 2, chain 1, modified residue 1, cross-link 1, splice variant 1, sequence variant 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BZF9-F1	74.08	0.09

Functional residue map

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

Post-translational modifications (2): 1, 1035

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-9013407	RHOH GTPase cycle
R-HSA-9627069	Regulation of the apoptosome activity

MSigDB gene sets: 197 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, MYOGENIN_Q6, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, GOBP_INFLAMMATORY_RESPONSE, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, NFKB_Q6, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, NFKB_C, GOBP_APOPTOTIC_SIGNALING_PATHWAY, FOSTER_TOLERANT_MACROPHAGE_UP, ROZANOV_MMP14_TARGETS_UP, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_NEGATIVE_REGULATION_OF_DEFENSE_RESPONSE, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE, GOBP_DNA_DAMAGE_RESPONSE

GO Biological Process (4): intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630), intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631), negative regulation of inflammatory response (GO:0050728), negative regulation of non-canonical NF-kappaB signal transduction (GO:1901223)

GO Molecular Function (2): actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (7): extracellular region (GO:0005576), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), cytoskeleton (GO:0005856), extracellular exosome (GO:0070062), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
RHO GTPase cycle	1
Formation of apoptosome	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
intrinsic apoptotic signaling pathway	2
DNA damage response	1
inflammatory response	1
negative regulation of defense response	1
negative regulation of response to external stimulus	1
regulation of inflammatory response	1
non-canonical NF-kappaB signal transduction	1
regulation of non-canonical NF-kappaB signal transduction	1
negative regulation of intracellular signal transduction	1
cytoskeletal protein binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
intracellular membraneless organelle	1
extracellular vesicle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1395 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UACA	APAF1	O14727	804
UACA	LGALS3	P17931	770
UACA	PAWR	Q96IZ0	591
UACA	IMMT	Q16891	583
UACA	PRADC1	Q9BSG0	582
UACA	FLII	Q13045	576
UACA	EFHD2	Q96C19	561
UACA	GEMIN4	P57678	539
UACA	TRIM21	P19474	522
UACA	CYCS	P00001	505
UACA	BCL2	P10415	504
UACA	PRSS37	A4D1T9	502
UACA	CASP9	P55211	487
UACA	TCP10L	Q8TDR4	473
UACA	CCDC18	Q5T9S5	470

IntAct

163 interactions, top by confidence:

A	B	Type	Score
PPP1CB	CCDC85C	psi-mi:“MI:0914”(association)	0.750
PPP1CB	CCDC85C	psi-mi:“MI:2364”(proximity)	0.750
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
MIS18A	DCTN6	psi-mi:“MI:0914”(association)	0.640
IFT22	IFT56	psi-mi:“MI:0914”(association)	0.640
CCDC120	AIP	psi-mi:“MI:0914”(association)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
UACA	KRT40	psi-mi:“MI:0915”(physical association)	0.560
KRT40	UACA	psi-mi:“MI:0915”(physical association)	0.560
RTP2	UACA	psi-mi:“MI:0915”(physical association)	0.560
KRT31	UACA	psi-mi:“MI:0915”(physical association)	0.560
UACA	UBQLN2	psi-mi:“MI:0915”(physical association)	0.560
CCDC125	UACA	psi-mi:“MI:0915”(physical association)	0.560
PRKAR1B	UACA	psi-mi:“MI:0915”(physical association)	0.560
AHCYL1	UACA	psi-mi:“MI:0915”(physical association)	0.560
PICK1	ILVBL	psi-mi:“MI:0914”(association)	0.530
BORCS6	HSBP1	psi-mi:“MI:0914”(association)	0.530
PNMA5	CARNMT1	psi-mi:“MI:0914”(association)	0.530
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
JPH4	ZSWIM8	psi-mi:“MI:0914”(association)	0.530
VTN	HAT1	psi-mi:“MI:0914”(association)	0.530

BioGRID (177): UACA (Affinity Capture-MS), KRT40 (Two-hybrid), UACA (Affinity Capture-MS), UACA (Affinity Capture-MS), UACA (Affinity Capture-MS), UACA (Affinity Capture-MS), UACA (Affinity Capture-MS), UACA (Affinity Capture-MS), UACA (Affinity Capture-MS), UACA (Affinity Capture-MS), UACA (Affinity Capture-MS), UACA (Affinity Capture-MS), UACA (Affinity Capture-MS), UACA (Affinity Capture-MS), UACA (Affinity Capture-MS)

ESM2 similar proteins: A0A8M2BID5, A0A8M9PQ61, A1Z8P9, A6QR54, B4KE73, E9Q7G0, F1R4Y7, O15083, O55156, O60437, O61308, Q11102, Q13439, Q15643, Q3SWS9, Q5DTN8, Q5M9N0, Q5PQ23, Q5RI56, Q5U4E6, Q5VZ66, Q5ZKK5, Q66H89, Q6DFL0, Q6PH08, Q6ZU80, Q7ZW57, Q811U3, Q8BI22, Q8BVL9, Q8CDI6, Q8CDI7, Q8CGB3, Q8HYY4, Q8IUD2, Q8K3M6, Q8WXW3, Q91VW5, Q96AA8, Q96N16

Diamond homologs: Q5U312, Q80VM7, Q8CGB3, Q8HYY4, Q8N283, Q8TF21, Q9BZF9, Q9EP71, Q9GL21, Q9P0K7, Q0VCS9, Q8IV38

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 154 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
Activation of BAD and translocation to mitochondria	5	36.6×	7e-06
Signaling by FLT3 ITD and TKD mutants	5	36.6×	7e-06
Constitutive Signaling by EGFRvIII	5	34.3×	1e-05
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	5	32.3×	1e-05
Signaling by ERBB2 ECD mutants	5	32.3×	1e-05
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	5	32.3×	1e-05
SHC-mediated cascade:FGFR4	6	31.4×	4e-06
Tie2 Signaling	5	28.9×	2e-05

GO biological processes:

GO term	Partners	Fold	FDR
cell-cell adhesion mediated by cadherin	6	18.0×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	178
Likely benign	21
Benign	17

Top pathogenic / likely-pathogenic (0)

SpliceAI

3622 predictions. Top by Δscore:

Variant	Effect	Δscore
15:70657126:CC:C	acceptor_gain	1.0000
15:70657127:CC:C	acceptor_gain	1.0000
15:70657127:CCTT:C	acceptor_loss	1.0000
15:70657128:C:CC	acceptor_gain	1.0000
15:70657128:C:T	acceptor_gain	1.0000
15:70657129:T:A	acceptor_loss	1.0000
15:70657131:C:CT	acceptor_gain	1.0000
15:70660145:CTTTA:C	donor_loss	1.0000
15:70660146:TTTA:T	donor_loss	1.0000
15:70660147:TTAC:T	donor_loss	1.0000
15:70660148:TA:T	donor_loss	1.0000
15:70660149:ACC:A	donor_loss	1.0000
15:70660215:TC:T	acceptor_gain	1.0000
15:70660216:CC:C	acceptor_gain	1.0000
15:70660216:CCTAG:C	acceptor_loss	1.0000
15:70660223:A:C	acceptor_gain	1.0000
15:70660225:G:C	acceptor_gain	1.0000
15:70664660:A:AC	donor_gain	1.0000
15:70664660:ACGG:A	donor_gain	1.0000
15:70664661:C:CC	donor_gain	1.0000
15:70664661:CGGC:C	donor_gain	1.0000
15:70669458:GTACA:G	acceptor_gain	1.0000
15:70669459:TACA:T	acceptor_gain	1.0000
15:70669460:ACA:A	acceptor_gain	1.0000
15:70669461:CA:C	acceptor_gain	1.0000
15:70669461:CAC:C	acceptor_gain	1.0000
15:70669463:C:CC	acceptor_gain	1.0000
15:70671033:TATTA:T	donor_loss	1.0000
15:70671034:ATTAC:A	donor_loss	1.0000
15:70671035:TTA:T	donor_loss	1.0000

AlphaMissense

9455 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:70691339:G:T	A109D	0.995
15:70669159:A:G	S509P	0.994
15:70684427:A:G	C208R	0.994
15:70687798:G:C	S149R	0.994
15:70687798:G:T	S149R	0.994
15:70687800:T:G	S149R	0.994
15:70690457:C:G	A141P	0.994
15:70691306:A:G	L120P	0.994
15:70669116:A:G	L523P	0.993
15:70684393:A:G	L219S	0.993
15:70684430:C:G	G207R	0.993
15:70691340:C:G	A109P	0.993
15:70660167:A:G	L1388P	0.992
15:70660176:C:G	R1385P	0.992
15:70684360:T:A	D230V	0.992
15:70684361:C:G	D230H	0.992
15:70684429:C:T	G207D	0.992
15:70691342:G:T	A108D	0.992
15:70690465:A:T	L138H	0.991
15:70699626:A:G	L38S	0.991
15:70669192:C:G	A498P	0.990
15:70678106:A:G	L331P	0.990
15:70684425:G:C	C208W	0.990
15:70687633:G:C	P170R	0.990
15:70690456:G:T	A141D	0.990
15:70664804:A:G	L1324P	0.989
15:70684330:G:T	A240E	0.989
15:70687621:G:T	A174D	0.989
15:70691315:A:G	L117P	0.989
15:70687553:C:G	D197H	0.988

dbSNP variants (sampled 300 via entrez): RS1000001675 (15:70718042 C>T), RS1000023213 (15:70739430 AC>A), RS1000028633 (15:70689970 T>C), RS1000053508 (15:70767106 G>A,C,T), RS1000054454 (15:70724485 T>C), RS1000103059 (15:70671515 C>T), RS1000121676 (15:70690360 A>T), RS1000132369 (15:70713274 G>A), RS1000166032 (15:70764573 T>A,C), RS1000169895 (15:70663100 T>A), RS1000196222 (15:70701285 C>A,T), RS1000196333 (15:70711339 C>T), RS1000219164 (15:70716724 A>T), RS1000221049 (15:70656903 T>C,G), RS1000229750 (15:70759329 A>T)

Disease associations

OMIM: gene MIM:612516 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002113_3	Pulmonary function	3.000000e-09
GCST006061_217	Atrial fibrillation	2.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0003892	pulmonary function measurement
EFO:0004713	FEV/FVC ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067189 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.79	Kd	1612	nM	CHEMBL5653589
5.79	ED50	1612	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149700: Binding affinity to human UACA incubated for 45 mins by Kinobead based pull down assay	kd	1.6119	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, decreases methylation, increases methylation	2
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	2
potassium chromate(VI)	affects cotreatment, decreases expression	2
chromium hexavalent ion	decreases expression, increases abundance, increases expression	2
entinostat	decreases expression, increases expression, affects cotreatment	2
Arsenic	increases abundance, increases expression, affects cotreatment, decreases expression	2
Cisplatin	decreases expression	2
Nickel	decreases expression	2
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, decreases expression	1
trichostatin A	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
arsenite	affects binding, decreases reaction	1
zinc chromate	increases abundance, increases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dimethylarsinous acid	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Resveratrol	decreases expression	1
Sunitinib	decreases expression	1
Vorinostat	increases 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
CHEMBL5652742	Binding	Binding affinity to human UACA incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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