LUC7L3

Summary

LUC7L3 (LUC7 like 3 pre-mRNA splicing factor, HGNC:24309) is a protein-coding gene on chromosome 17q21.33, encoding Luc7-like protein 3 (O95232). Binds cAMP regulatory element DNA sequence. It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines).

This gene encodes a protein with an N-terminal half that contains cysteine/histidine motifs and leucine zipper-like repeats, and the C-terminal half is rich in arginine and glutamate residues (RE domain) and arginine and serine residues (RS domain). This protein localizes with a speckled pattern in the nucleus, and could be involved in the formation of splicesome via the RE and RS domains. Two alternatively spliced transcript variants encoding the same protein have been found for this gene.

Source: NCBI Gene 51747 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 41 total
• Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
• MANE Select transcript: NM_016424

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24309
Approved symbol	LUC7L3
Name	LUC7 like 3 pre-mRNA splicing factor
Location	17q21.33
Locus type	gene with protein product
Status	Approved
Aliases	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A
Ensembl gene	ENSG00000108848
Ensembl biotype	protein_coding
OMIM	609434
Entrez	51747

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 10 protein_coding, 8 nonsense_mediated_decay, 3 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000240304, ENST00000393227, ENST00000503728, ENST00000503798, ENST00000504065, ENST00000504563, ENST00000505619, ENST00000505658, ENST00000506686, ENST00000507200, ENST00000507503, ENST00000508045, ENST00000508218, ENST00000508482, ENST00000509335, ENST00000509487, ENST00000510984, ENST00000511068, ENST00000511974, ENST00000512549, ENST00000513025, ENST00000513969, ENST00000625349

RefSeq mRNA: 3 — MANE Select: NM_016424 NM_001330330, NM_006107, NM_016424

CCDS: CCDS11573, CCDS82158

Canonical transcript exons

ENST00000505658 — 10 exons

Exon	Start	End
ENSE00001018561	50719603	50719831
ENSE00002044311	50750501	50756219
ENSE00003506622	50741657	50741731
ENSE00003513508	50743706	50743810
ENSE00003517364	50740306	50740345
ENSE00003576341	50744652	50744813
ENSE00003588279	50736960	50737026
ENSE00003627517	50745720	50746003
ENSE00003673736	50746542	50746702
ENSE00003681377	50741102	50741246

Expression profiles

Bgee: expression breadth ubiquitous, 303 present calls, max score 99.56.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 154.6855 / max 36852.1499, expressed in 1822 samples.

FANTOM5 promoters (14 alternative TSS)

Promoter ID	TPM avg	Samples expressed
161706	98.6214	1821
161713	19.8406	1485
161715	11.7993	1346
161714	10.5669	1329
161716	4.9716	1036
161711	1.5479	487
161712	1.5084	335
161709	1.3615	530
161720	1.1308	575
161708	0.9054	375

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pylorus	UBERON:0001166	99.56	gold quality
sural nerve	UBERON:0015488	99.54	gold quality
right hemisphere of cerebellum	UBERON:0014890	99.53	gold quality
endothelial cell	CL:0000115	99.48	gold quality
cardia of stomach	UBERON:0001162	99.47	gold quality
cerebellar cortex	UBERON:0002129	99.47	gold quality
cerebellar hemisphere	UBERON:0002245	99.47	gold quality
tibia	UBERON:0000979	99.44	gold quality
cerebellar vermis	UBERON:0004720	99.35	gold quality
cerebellum	UBERON:0002037	99.30	gold quality
left ovary	UBERON:0002119	99.30	gold quality
seminal vesicle	UBERON:0000998	99.29	gold quality
corpus callosum	UBERON:0002336	99.25	gold quality
inferior vagus X ganglion	UBERON:0005363	99.25	gold quality
visceral pleura	UBERON:0002401	99.22	gold quality
renal medulla	UBERON:0000362	99.21	gold quality
right ovary	UBERON:0002118	99.21	gold quality
right uterine tube	UBERON:0001302	99.18	gold quality
adenohypophysis	UBERON:0002196	99.15	gold quality
lateral globus pallidus	UBERON:0002476	99.14	gold quality
ovary	UBERON:0000992	99.12	gold quality
trigeminal ganglion	UBERON:0001675	99.11	gold quality
postcentral gyrus	UBERON:0002581	99.11	gold quality
pituitary gland	UBERON:0000007	99.10	gold quality
body of uterus	UBERON:0009853	99.10	gold quality
ganglionic eminence	UBERON:0004023	99.08	gold quality
germinal epithelium of ovary	UBERON:0001304	99.07	gold quality
parietal lobe	UBERON:0001872	99.07	gold quality
substantia nigra pars reticulata	UBERON:0001966	99.07	gold quality
cortical plate	UBERON:0005343	99.07	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-GEOD-75140	yes	2448.07
E-MTAB-8381	yes	1283.14
E-MTAB-5061	yes	13.31
E-MTAB-7249	yes	10.89
E-CURD-114	yes	7.00
E-GEOD-125970	yes	5.98
E-GEOD-137537	no	6.37
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

177 targeting LUC7L3, 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-6748-5P	100.00	65.81	1057
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-1468-3P	99.96	72.74	3797
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-3682-5P	99.93	67.97	1163
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-10527-5P	99.91	72.28	3754

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 8)

• These results suggest that cisplatin affects RNA splicing by changing the subnuclear distribution of proteins including cisplatin resistance-associated overexpressed protein (CROP). (PMID:12565863)
• Luc7A is a new U1 snRNP-associated splicing factor. (PMID:17726058)
• RBM25/LUC7L3-mediated abnormal SCN5A mRNA splicing reduced Na+ channel current 91.1+/-9.3% to a range known to cause sudden death. (PMID:21859973)
• these results show that angiotensin II and hypoxia, signals common to heart failure, result in increased LUC7L3 and RBM25 splicing regulators, increased binding of RBM25 to SCN5A mRNA, increased SCN5A splice variant abundances, decreased full-length SCN5A mRNA and protein, and decreased Na(+) current. (PMID:22939879)
• LUC7 like 3 pre-mRNA splicing factor (LUC7L3, also known as hLuc7A or CROP) is a novel interacting partner of HBV enhancer II and basal core promoter. (PMID:27857158)
• results indicate that LUC7L3, PPIG, and SFRS18 are not only implicated in EDA+ fibronectin formation, but also that they could possess multiple roles in psoriasis-associated molecular abnormalities. (PMID:28589370)
• In our present RNA-Seq experiment, we demonstrated that the LUC7L3 and SFRS18 splicing factors contribute to the regulation of several well-known psoriasis-associated pathways, including the IFN signalling pathway, antiviral immunity and ubiquitination. (PMID:29512856)
• Functional analyses of human LUC7-like proteins involved in splicing regulation and myeloid neoplasms. (PMID:33852859)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	luc7l3	ENSDARG00000014366
mus_musculus	Luc7l3	ENSMUSG00000020863
rattus_norvegicus	Luc7l3-ps2	ENSRNOG00000002835
drosophila_melanogaster	CG3198	FBGN0029887
caenorhabditis_elegans		WBGENE00016811
caenorhabditis_elegans		WBGENE00022489

Paralogs (2): LUC7L (ENSG00000007392), LUC7L2 (ENSG00000146963)

Protein

Protein identifiers

Luc7-like protein 3 — O95232 (reviewed: O95232)

Alternative names: Cisplatin resistance-associated-overexpressed protein, Luc7A, Okadaic acid-inducible phosphoprotein OA48-18, cAMP regulatory element-associated protein 1

All UniProt accessions (13): O95232, C9JL41, D6RDI2, D6RHH0, E7EN55, H0YA81, H0YAR4, H0YAX1, H0YAY6, H0YBV7, H7C5U7, J3KPP4, U3KQT3

UniProt curated annotations — full annotation on UniProt →

Function. Binds cAMP regulatory element DNA sequence. May play a role in RNA splicing.

Subunit / interactions. May interact with SFRS1 and form homodimers. Interacts with JMJD6. Interacts with RBM25. Interacts with RSRC1 (via Arg/Ser-rich domain). Interacts with RRP1B.

Subcellular location. Nucleus speckle.

Tissue specificity. Widely expressed. Highest levels in heart, brain, pancreas, thymus, ovary, small intestine and peripheral blood leukocytes, as well as cerebellum, putamen and pituitary gland. Lowest levels in lung, liver and kidney. Also expressed in fetal tissues, including brain, heart, kidney, thymus and lung.

Post-translational modifications. Phosphorylated in vitro by SRPK1, SRPK2 and CLK1.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the Luc7 family.

Isoforms (2)

UniProt ID	Names	Canonical?
O95232-1	1	yes
O95232-2	2

RefSeq proteins (3): NP_001317259, NP_006098, NP_057508* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004882	Luc7-rel	Family

Pfam: PF03194

UniProt features (23 total): modified residue 8, compositionally biased region 6, cross-link 2, splice variant 2, sequence conflict 2, chain 1, region of interest 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95232-F1	70.24	0.33

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 (10): 3, 110, 115, 231, 420, 425, 431, 424, 424, 1

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-72163	mRNA Splicing - Major Pathway
R-HSA-72172	mRNA Splicing
R-HSA-72203	Processing of Capped Intron-Containing Pre-mRNA
R-HSA-8953854	Metabolism of RNA

MSigDB gene sets: 368 (showing top): AHRARNT_01, E2F_Q4, BERENJENO_ROCK_SIGNALING_NOT_VIA_RHOA_DN, E2F4DP1_01, PAL_PRMT5_TARGETS_UP, NKX25_02, AAGTCCA_MIR422B_MIR422A, GCANCTGNY_MYOD_Q6, TTTGTAG_MIR520D, ATACCTC_MIR202, GCM_ZNF198, TGACCTY_ERR1_Q2, ATGCAGT_MIR217, HNF1_Q6, FOXO4_01

GO Biological Process (3): mRNA splice site recognition (GO:0006376), RNA splicing (GO:0008380), mRNA processing (GO:0006397)

GO Molecular Function (4): DNA binding (GO:0003677), RNA binding (GO:0003723), mRNA binding (GO:0003729), protein binding (GO:0005515)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), U1 snRNP (GO:0005685), nuclear speck (GO:0016607), U2-type prespliceosome (GO:0071004)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
mRNA Splicing	1
Processing of Capped Intron-Containing Pre-mRNA	1
Metabolism of RNA	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	2
nucleic acid binding	2
spliceosomal complex assembly	1
protein-RNA complex assembly	1
mRNA metabolic process	1
RNA binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
spliceosomal snRNP complex	1
nuclear ribonucleoprotein granule	1
U2-type spliceosomal complex	1
U1 snRNP	1
U2 snRNP	1
prespliceosome	1

Protein interactions and networks

STRING

1560 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LUC7L3	RBM25	P49756	755
LUC7L3	SRSF1	Q07955	731
LUC7L3	SRPK2	P78362	723
LUC7L3	PRCC	Q92733	710
LUC7L3	SNRNP70	P08621	700
LUC7L3	SRPK1	Q96SB4	684
LUC7L3	SRSF5	Q13243	658
LUC7L3	NONO	P30807	650
LUC7L3	KHSRP	Q92945	642
LUC7L3	RBM10	P98175	622
LUC7L3	RBM39	Q14498	593
LUC7L3	ASPSCR1	Q9BZE9	581
LUC7L3	PRPF39	Q86UA1	574
LUC7L3	DDX17	Q92841	537
LUC7L3	SRRM1	Q8IYB3	530

IntAct

92 interactions, top by confidence:

A	B	Type	Score
MED29	MED19	psi-mi:“MI:0914”(association)	0.890
MED19	MED19	psi-mi:“MI:0914”(association)	0.730
LUC7L2	ZRANB2	psi-mi:“MI:0914”(association)	0.640
LUC7L3	YWHAG	psi-mi:“MI:0915”(physical association)	0.590
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
RRP1B	LUC7L3	psi-mi:“MI:0914”(association)	0.430
RRP1B	LUC7L3	psi-mi:“MI:0403”(colocalization)	0.430
LUC7L3	S100A10	psi-mi:“MI:0915”(physical association)	0.400
SRSF1	LUC7L3	psi-mi:“MI:0915”(physical association)	0.370
LUC7L3	LUC7L3	psi-mi:“MI:0915”(physical association)	0.370
LUC7L3		psi-mi:“MI:0915”(physical association)	0.370
AKAP5	MRPL43	psi-mi:“MI:0914”(association)	0.350
NLRP3	PHRF1	psi-mi:“MI:0914”(association)	0.350
NABP2	LUC7L3	psi-mi:“MI:0914”(association)	0.350
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
DDX41	DDX39A	psi-mi:“MI:0914”(association)	0.350
NP	HNRNPAB	psi-mi:“MI:0914”(association)	0.350
NP	HNRNPCL1	psi-mi:“MI:0914”(association)	0.350
NP	NKRF	psi-mi:“MI:0914”(association)	0.350
NP	KPNA4	psi-mi:“MI:0914”(association)	0.350
NP	IPO5	psi-mi:“MI:0914”(association)	0.350
NP	KPNA6	psi-mi:“MI:0914”(association)	0.350
NP	TRIM66	psi-mi:“MI:0914”(association)	0.350
ORF21	USP9Y	psi-mi:“MI:0914”(association)	0.350
RRP1B	YY2	psi-mi:“MI:0914”(association)	0.350
LARP7		psi-mi:“MI:0914”(association)	0.350
OASL	LARP1	psi-mi:“MI:0914”(association)	0.350
CAND1	GTPBP10	psi-mi:“MI:0914”(association)	0.350

BioGRID (243): LUC7L3 (Affinity Capture-RNA), LUC7L3 (Affinity Capture-RNA), LUC7L3 (Affinity Capture-RNA), LUC7L3 (Affinity Capture-RNA), LUC7L3 (Affinity Capture-MS), LUC7L3 (Affinity Capture-MS), LUC7L3 (Affinity Capture-MS), LUC7L3 (Affinity Capture-MS), LUC7L3 (Affinity Capture-MS), LUC7L3 (Affinity Capture-MS), LUC7L3 (Affinity Capture-MS), LUC7L3 (Affinity Capture-MS), LUC7L3 (Affinity Capture-MS), LUC7L3 (Affinity Capture-MS), LUC7L3 (Affinity Capture-RNA)

ESM2 similar proteins: A2AQ19, B2GV05, O54941, O55047, O95232, P08621, P09406, P23588, P50502, P52756, P97762, Q07866, Q08CW1, Q13123, Q1ECX4, Q1RMR2, Q1RMU5, Q32KT0, Q3SX41, Q56A18, Q5NVI3, Q5R8W6, Q5RAD5, Q5RF31, Q5SRX1, Q5SUF2, Q5U2T8, Q5U2U0, Q5ZI03, Q62376, Q66HG8, Q66II8, Q6PH81, Q7TNC4, Q86UE8, Q86X95, Q8BGD9, Q8C0V0, Q8TA86, Q90ZY6

Diamond homologs: O95232, Q07508, Q3SX41, Q54XQ8, Q5R8W6, Q5SUF2, Q7TNC4, Q9CYI4, Q9NQ29, Q9USM4, Q9VVI1, Q9Y383, Q09217

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 114 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
mRNA Splicing	9	12.8×	4e-06
mRNA 3’-end processing	5	12.8×	2e-03
mRNA Polyadenylation	10	11.4×	4e-06
Processing of Capped Intron-Containing Pre-mRNA	10	10.7×	4e-06
mRNA Splicing - Major Pathway	14	9.9×	5e-08
Transport of Mature mRNA derived from an Intron-Containing Transcript	5	9.9×	7e-03
Metabolism of RNA	10	5.4×	9e-04
Viral Infection Pathways	12	4.8×	5e-04

GO biological processes:

GO term	Partners	Fold	FDR
spliceosomal complex assembly	5	29.5×	2e-04
mRNA stabilization	5	18.0×	1e-03
mRNA transcription by RNA polymerase II	5	16.2×	2e-03
mRNA splicing, via spliceosome	13	11.7×	4e-08
RNA splicing	12	10.4×	6e-07
mRNA processing	8	6.2×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	31
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2378 predictions. Top by Δscore:

Variant	Effect	Δscore
17:50719827:AGAGC:A	donor_gain	1.0000
17:50719828:GAGC:G	donor_gain	1.0000
17:50719828:GAGCG:G	donor_gain	1.0000
17:50719829:AGC:A	donor_gain	1.0000
17:50719830:GC:G	donor_gain	1.0000
17:50719830:GCG:G	donor_gain	1.0000
17:50719830:GCGT:G	donor_loss	1.0000
17:50719831:CGTA:C	donor_loss	1.0000
17:50719832:G:GG	donor_gain	1.0000
17:50719833:TAAGT:T	donor_loss	1.0000
17:50722649:AT:A	acceptor_gain	1.0000
17:50722649:ATGAT:A	acceptor_gain	1.0000
17:50736954:TACTA:T	acceptor_loss	1.0000
17:50736956:CTA:C	acceptor_loss	1.0000
17:50736957:TAGGT:T	acceptor_loss	1.0000
17:50736958:AGG:A	acceptor_loss	1.0000
17:50736959:GGTTT:G	acceptor_gain	1.0000
17:50737025:TGGT:T	donor_loss	1.0000
17:50737026:GGT:G	donor_loss	1.0000
17:50737027:G:A	donor_loss	1.0000
17:50737027:G:GG	donor_gain	1.0000
17:50737028:TAAG:T	donor_loss	1.0000
17:50737029:AAGT:A	donor_loss	1.0000
17:50740301:CCCAG:C	acceptor_loss	1.0000
17:50740302:CCAG:C	acceptor_loss	1.0000
17:50740303:CAGG:C	acceptor_loss	1.0000
17:50740304:A:AG	acceptor_gain	1.0000
17:50740304:A:T	acceptor_loss	1.0000
17:50740305:G:GG	acceptor_gain	1.0000
17:50740305:G:GT	acceptor_loss	1.0000

AlphaMissense

2840 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:50719752:T:C	L7S	1.000
17:50719755:T:C	L8S	1.000
17:50719755:T:G	L8W	1.000
17:50719757:G:C	D9H	1.000
17:50719758:A:T	D9V	1.000
17:50719764:T:C	L11S	1.000
17:50719767:T:A	M12K	1.000
17:50719767:T:C	M12T	1.000
17:50719768:G:A	M12I	1.000
17:50719768:G:C	M12I	1.000
17:50719768:G:T	M12I	1.000
17:50719769:G:A	G13S	1.000
17:50719769:G:C	G13R	1.000
17:50719769:G:T	G13C	1.000
17:50719770:G:A	G13D	1.000
17:50719770:G:T	G13V	1.000
17:50719778:C:G	R16G	1.000
17:50719779:G:C	R16P	1.000
17:50719779:G:T	R16L	1.000
17:50719783:C:A	N17K	1.000
17:50719783:C:G	N17K	1.000
17:50719817:T:A	W29R	1.000
17:50719817:T:C	W29R	1.000
17:50719818:G:C	W29S	1.000
17:50719819:G:C	W29C	1.000
17:50719819:G:T	W29C	1.000
17:50736961:T:A	V34D	1.000
17:50736963:T:A	C35S	1.000
17:50736963:T:C	C35R	1.000
17:50736964:G:A	C35Y	1.000

dbSNP variants (sampled 300 via entrez): RS1000057385 (17:50750450 T>C), RS1000118320 (17:50743281 C>G,T), RS1000189913 (17:50749439 G>A,C), RS1000274387 (17:50718196 A>G), RS1000352274 (17:50723928 C>A,T), RS1000357601 (17:50743132 C>G), RS1000687696 (17:50722578 T>G), RS1000712748 (17:50756183 T>C), RS1000720018 (17:50722837 A>G), RS1000780071 (17:50732557 A>C,G,T), RS1000974702 (17:50737661 C>T), RS1001070391 (17:50732089 A>C), RS1001099808 (17:50732265 G>A,C), RS1001146294 (17:50723714 G>T), RS1001249676 (17:50755812 C>T)

Disease associations

OMIM: gene MIM:609434 | 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
GCST008394_10	Mild to moderate chronic kidney disease	8.000000e-08
GCST012490_376	Femur bone mineral density x serum urate levels interaction	3.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression	2
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
TAK-243	decreases sumoylation	1
dicrotophos	decreases expression	1
testosterone enanthate	affects expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
bisphenol A	decreases expression	1
deoxynivalenol	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
coumarin	increases phosphorylation	1
resorcinol	increases expression	1
triacsin C	decreases expression	1
methacrylaldehyde	decreases expression, increases abundance, affects cotreatment	1
2-ethyl-5-carboxypentyl phthalate	affects expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
mono(2-ethyl-5-oxohexyl)phthalate	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	decreases expression	1
bisphenol B	increases expression	1
LDN 193189	affects cotreatment, increases expression	1
NSC668394	increases expression	1
bisphenol AF	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	decreases expression	1
Leflunomide	decreases expression	1

Clinical trials (associated diseases)

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