RAD54L2

Summary

RAD54L2 (RAD54 like 2, HGNC:29123) is a protein-coding gene on chromosome 3p21.2, encoding Helicase ARIP4 (Q9Y4B4). Helicase that modulates androgen receptor (AR)-dependent transactivation in a promoter-dependent manner.

Predicted to enable ATP-dependent chromatin remodeler activity; protein kinase binding activity; and transcription coregulator activity. Predicted to be involved in chromatin organization. Predicted to act upstream of or within positive regulation of transcription by RNA polymerase II. Predicted to be located in nuclear speck. Predicted to be active in nucleus.

Source: NCBI Gene 23132 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 183 total — 1 likely-pathogenic
• MANE Select transcript: NM_015106

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29123
Approved symbol	RAD54L2
Name	RAD54 like 2
Location	3p21.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0809, SRISNF2L, ARIP4
Ensembl gene	ENSG00000164080
Ensembl biotype	protein_coding
OMIM	620006
Entrez	23132

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 13 protein_coding, 4 retained_intron

ENST00000409535, ENST00000432863, ENST00000461680, ENST00000462377, ENST00000487093, ENST00000602430, ENST00000684192, ENST00000871491, ENST00000871492, ENST00000871493, ENST00000871494, ENST00000871495, ENST00000930212, ENST00000930213, ENST00000930214, ENST00000930215, ENST00000961134

RefSeq mRNA: 6 — MANE Select: NM_015106 NM_001322253, NM_001322256, NM_001387866, NM_001387867, NM_001387869, NM_015106

CCDS: CCDS33765

Canonical transcript exons

ENST00000684192 — 23 exons

Exon	Start	End
ENSE00003477797	51638144	51638321
ENSE00003478225	51646285	51646481
ENSE00003483746	51643875	51643974
ENSE00003499909	51655971	51656170
ENSE00003512831	51657580	51657669
ENSE00003519559	51629334	51629473
ENSE00003528851	51637161	51637503
ENSE00003535644	51630705	51630931
ENSE00003541927	51633577	51633759
ENSE00003553564	51633902	51634035
ENSE00003562792	51639419	51639670
ENSE00003569140	51645024	51645229
ENSE00003587967	51590367	51590559
ENSE00003591468	51639881	51639999
ENSE00003623751	51645591	51645763
ENSE00003635647	51627553	51627754
ENSE00003640368	51635593	51635789
ENSE00003643896	51641749	51641867
ENSE00003648439	51660026	51660118
ENSE00003648445	51630272	51630388
ENSE00003916455	51662426	51668660
ENSE00003917516	51538719	51538915
ENSE00003922446	51541589	51541650

Expression profiles

Bgee: expression breadth ubiquitous, 242 present calls, max score 94.73.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.7496 / max 178.7572, expressed in 1809 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
36769	15.3940	1808
36770	0.3556	142

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	94.73	gold quality
oocyte	CL:0000023	94.09	gold quality
sural nerve	UBERON:0015488	88.70	gold quality
tendon of biceps brachii	UBERON:0008188	86.27	gold quality
endometrium epithelium	UBERON:0004811	84.35	gold quality
nipple	UBERON:0002030	84.16	gold quality
adrenal tissue	UBERON:0018303	83.44	gold quality
colonic epithelium	UBERON:0000397	83.42	gold quality
tibia	UBERON:0000979	83.39	gold quality
bone marrow cell	CL:0002092	83.14	gold quality
medial globus pallidus	UBERON:0002477	82.58	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	82.11	silver quality
cortical plate	UBERON:0005343	81.87	gold quality
ganglionic eminence	UBERON:0004023	81.85	gold quality
tendon	UBERON:0000043	81.42	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.31	gold quality
globus pallidus	UBERON:0001875	81.06	gold quality
tonsil	UBERON:0002372	80.92	gold quality
middle temporal gyrus	UBERON:0002771	80.57	silver quality
liver	UBERON:0002107	80.42	gold quality
esophagus squamous epithelium	UBERON:0006920	80.42	gold quality
calcaneal tendon	UBERON:0003701	80.09	gold quality
stromal cell of endometrium	CL:0002255	79.99	gold quality
cerebellar vermis	UBERON:0004720	79.90	gold quality
embryo	UBERON:0000922	79.83	gold quality
ventricular zone	UBERON:0003053	79.70	gold quality
trabecular bone tissue	UBERON:0002483	79.67	silver quality
biceps brachii	UBERON:0001507	79.50	silver quality
mucosa of stomach	UBERON:0001199	79.48	gold quality
corpus callosum	UBERON:0002336	79.33	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.07

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

155 targeting RAD54L2, 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-8485	100.00	77.57	4731
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-4728-5P	99.85	69.39	4718

Literature-anchored findings (GeneRIF, showing 4)

• The ATPase activity of ARIP4 was stimulated in the presence of sumoylated Ad4BP/SF-1 and the Ad4BP/SF-1-binding site containing double-stranded DNA. (PMID:19692572)
• p62 is a novel binding partner for ARIP4, and that its binding regulates the cellular protein level of ARIP4 under conditions of metabolic stress. (PMID:26412716)
• CircRAD54L2 promotes triple-negative breast cancer progression by regulating the miR-888 family/PDK1 axis. (PMID:36334805)
• Impact of GTF2H1 and RAD54L2 polymorphisms on the risk of lung cancer in the Chinese Han population. (PMID:36384536)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rad54l2	ENSDARG00000063031
mus_musculus	Rad54l2	ENSMUSG00000040661
rattus_norvegicus	Rad54l2	ENSRNOG00000049489
drosophila_melanogaster	CG4049	FBGN0034976
caenorhabditis_elegans		WBGENE00007761

Paralogs (30): HLTF (ENSG00000071794), SMARCA2 (ENSG00000080503), SRCAP (ENSG00000080603), ATRX (ENSG00000085224), RAD54L (ENSG00000085999), BTAF1 (ENSG00000095564), CHD8 (ENSG00000100888), SMARCA1 (ENSG00000102038), CHD4 (ENSG00000111642), CHD5 (ENSG00000116254), TTF2 (ENSG00000116830), HELLS (ENSG00000119969), ZRANB3 (ENSG00000121988), CHD6 (ENSG00000124177), SMARCA4 (ENSG00000127616), INO80 (ENSG00000128908), CHD1L (ENSG00000131778), SMARCAL1 (ENSG00000138375), SHPRH (ENSG00000146414), SMARCA5 (ENSG00000153147), CHD1 (ENSG00000153922), SMARCAD1 (ENSG00000163104), CHD3 (ENSG00000170004), CHD7 (ENSG00000171316), CHD2 (ENSG00000173575), CHD9 (ENSG00000177200), EP400 (ENSG00000183495), ERCC6L (ENSG00000186871), RAD54B (ENSG00000197275), ERCC6 (ENSG00000225830)

Protein

Protein identifiers

Helicase ARIP4 — Q9Y4B4 (reviewed: Q9Y4B4)

Alternative names: Androgen receptor-interacting protein 4, RAD54-like protein 2

All UniProt accessions (2): Q9Y4B4, H0Y760

UniProt curated annotations — full annotation on UniProt →

Function. Helicase that modulates androgen receptor (AR)-dependent transactivation in a promoter-dependent manner. May stimulate the release of RNA polymerase II, that has paused near the transcription start sites of AR-targeted genes and unwind R-loops formed at these sites; R-loops result from the hybridization of the short RNA strand nascently synthesized by the paused RNA polymerase II molecule and the DNA template. May also stimulate double-strand break formation by TOP2B, which appears important for transcriptional output. Not able to remodel mononucleosomes in vitro.

Subunit / interactions. Interacts (via N-terminus) with AR/androgen receptor. Interacts with DYRK1A. Binds DNA and mononucleosomes, but does not seem to form large multiprotein complexes.

Subcellular location. Nucleus. Chromosome.

Tissue specificity. Levels elevated in prostatic adenocarcinoma (at protein level).

Post-translational modifications. Sumoylated.

Activity regulation. Enzyme activity is enhanced by dsDNA (double-stranded DNA) and ssDNA (single-stranded DNA).

Domain organisation. Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs are known to be important for the association with nuclear receptors.

Similarity. Belongs to the SNF2/RAD54 helicase family.

RefSeq proteins (6): NP_001309182, NP_001309185, NP_001374795, NP_001374796, NP_001374798, NP_055921* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000330	SNF2_N	Domain
IPR001650	Helicase_C-like	Domain
IPR014001	Helicase_ATP-bd	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR038718	SNF2-like_sf	Homologous_superfamily
IPR044573	ARIP4_DEXHc	Domain
IPR044574	ARIP4-like	Family
IPR049730	SNF2/RAD54-like_C	Domain

Pfam: PF00176, PF00271

Catalyzed reactions (Rhea), 1 shown:

• ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)

UniProt features (38 total): cross-link 9, compositionally biased region 7, region of interest 7, sequence conflict 4, short sequence motif 3, modified residue 3, domain 2, chain 1, binding site 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y4B4-F1	61.77	0.24

Functional residue map

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

Ligand- & substrate-binding residues (1): 305–312

Post-translational modifications (12): 1169, 1172, 1260, 115, 127, 272, 665, 682, 759, 901, 1014, 1018

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 120 (showing top): TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GOBP_CHROMATIN_REMODELING, SCHLOSSER_SERUM_RESPONSE_AUGMENTED_BY_MYC, ACTWSNACTNY_UNKNOWN, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, GOCC_NUCLEAR_BODY, MARSON_BOUND_BY_FOXP3_STIMULATED, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_AMINOACYLTRANSFERASE_ACTIVITY, GOMF_ATP_DEPENDENT_ACTIVITY_ACTING_ON_DNA, GOMF_UBIQUITIN_LIKE_PROTEIN_LIGASE_ACTIVITY, GOMF_ATP_HYDROLYSIS_ACTIVITY, GOMF_ADENYL_NUCLEOTIDE_BINDING, GOMF_DNA_HELICASE_ACTIVITY

GO Biological Process (5): chromatin organization (GO:0006325), transcription elongation by RNA polymerase II (GO:0006368), positive regulation of transcription by RNA polymerase II (GO:0045944), R-loop processing (GO:0062176), chromatin remodeling (GO:0006338)

GO Molecular Function (12): DNA binding (GO:0003677), DNA helicase activity (GO:0003678), transcription coregulator activity (GO:0003712), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), DNA/RNA helicase activity (GO:0033677), ubiquitin protein ligase activity (GO:0061630), ATP-dependent chromatin remodeler activity (GO:0140658), nucleotide binding (GO:0000166), helicase activity (GO:0004386), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), nuclear body (GO:0016604)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ATP-dependent activity, acting on DNA	3
transcription by RNA polymerase II	2
chromatin remodeling	2
helicase activity	2
ATP-dependent activity	2
cellular component organization	1
DNA-templated transcription elongation	1
regulation of transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
chromatin organization	1
nucleic acid binding	1
transcription regulator activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribonucleoside triphosphate phosphatase activity	1
ATP-dependent activity, acting on RNA	1
catalytic activity, acting on RNA	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
DNA binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
nucleic acid conformation isomerase activity	1
catalytic activity, acting on a nucleic acid	1
binding	1
catalytic activity	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1
nucleoplasm	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1521 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RAD54L2	NR5A2	O00482	716
RAD54L2	AR	P10275	715
RAD54L2	NR3C1	P04150	669
RAD54L2	DYRK1A	Q13627	654
RAD54L2	DCAF7	P61962	617
RAD54L2	FAM117B	Q6P1L5	546
RAD54L2	TROAP	Q12815	474
RAD54L2	LIN52	Q52LA3	465
RAD54L2	SLX4IP	Q5VYV7	461
RAD54L2	TRAF3	Q13114	422
RAD54L2	FAM53C	Q9NYF3	357
RAD54L2	NFATC1	O95644	347
RAD54L2	FAM13B	Q9NYF5	341
RAD54L2	TXLNA	P40222	336
RAD54L2	GSK3B	P49841	328

IntAct

122 interactions, top by confidence:

A	B	Type	Score
CNOT7	CNOT1	psi-mi:“MI:0914”(association)	0.880
DCAF7	DIAPH1	psi-mi:“MI:0914”(association)	0.730
SUMO1	RAD54L2	psi-mi:“MI:0915”(physical association)	0.720
RAD54L2	SUMO1	psi-mi:“MI:0915”(physical association)	0.720
RAD54L2	PSMA3	psi-mi:“MI:0915”(physical association)	0.560
RAD54L2	SIAH1	psi-mi:“MI:0915”(physical association)	0.560
SIAH1	RAD54L2	psi-mi:“MI:0915”(physical association)	0.560
PSMA3	RAD54L2	psi-mi:“MI:0915”(physical association)	0.560
RBPMS	RAD54L2	psi-mi:“MI:0915”(physical association)	0.560
THAP1	RAD54L2	psi-mi:“MI:0915”(physical association)	0.560
RUNX1T1	RAD54L2	psi-mi:“MI:0915”(physical association)	0.560
FAM118B	RAD54L2	psi-mi:“MI:0915”(physical association)	0.560
LCE1D	RAD54L2	psi-mi:“MI:0915”(physical association)	0.560
PAICS	RAD54L2	psi-mi:“MI:0915”(physical association)	0.560
	RAD54L2	psi-mi:“MI:0915”(physical association)	0.560
LCE1F	RAD54L2	psi-mi:“MI:0915”(physical association)	0.560
BANP	RAD54L2	psi-mi:“MI:0915”(physical association)	0.560
ZC2HC1A	RAD54L2	psi-mi:“MI:0915”(physical association)	0.560
KIFC3	RAD54L2	psi-mi:“MI:0915”(physical association)	0.560
HOMER1	RAD54L2	psi-mi:“MI:0915”(physical association)	0.560
KRTAP6-3	RAD54L2	psi-mi:“MI:0915”(physical association)	0.560
POU1F1	RAD54L2	psi-mi:“MI:0915”(physical association)	0.560
TFAP2D	RAD54L2	psi-mi:“MI:0915”(physical association)	0.560
TRAF4	RAD54L2	psi-mi:“MI:0915”(physical association)	0.560
ZBTB26	RAD54L2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (135): RAD54L2 (Two-hybrid), RAD54L2 (Two-hybrid), RAD54L2 (Two-hybrid), RAD54L2 (Reconstituted Complex), RAD54L2 (Affinity Capture-MS), KHSRP (Co-fractionation), RAD54L2 (Two-hybrid), CNOT7 (Two-hybrid), TAX1BP1 (Two-hybrid), RAD54L2 (Affinity Capture-MS), DYRK1A (Affinity Capture-MS), SQSTM1 (Affinity Capture-MS), DCAF7 (Affinity Capture-MS), SQSTM1 (Affinity Capture-Western), SQSTM1 (Co-localization)

ESM2 similar proteins: A0A1D5PRR9, A4IHD2, A4PBL4, B4F769, D4ACP5, F4HQE2, I3XHK1, O09053, O12944, O75417, O94762, P0DOY1, P56960, P70270, Q08D35, Q0PCS3, Q1LWH4, Q2VPA6, Q3B7N1, Q3UWM4, Q5NC05, Q5QJC2, Q5RDL2, Q5RHD1, Q5SXJ3, Q5ZJF6, Q6NU40, Q6NZP1, Q6NZQ2, Q6PFE3, Q6ZMT4, Q80Y44, Q8BGE5, Q8CGS6, Q8GT06, Q8IYD8, Q8TDG4, Q8VID5, Q92698, Q99NG0

Diamond homologs: A0A0P0WGX7, A1C9W6, A1CZE5, A2BGR3, A2R9H9, A4H7G5, A4HVU6, A4IHD2, A4PBL4, A4R227, A5E0W5, A6QQR4, A6ZL17, A6ZU34, A7EQA8, A7TJI3, A7Z019, B3LN76, B4F769, B5VE38, B6EU02, C0H4W3, C7GQI8, E7F1C4, F4HW51, O13682, O14148, P0CO16, P0CO17, P0CO18, P0CO19, P32863, P34739, P36607, P38086, P41410, P43610, P46100, P51532, P53115

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 79 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
SUMOylation of DNA damage response and repair proteins	5	14.6×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
transcription by RNA polymerase II	7	7.2×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	158
Likely benign	6
Benign	6

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3374700	NM_015106.4(RAD54L2):c.389A>G (p.Gln130Arg)	Likely pathogenic

SpliceAI

3910 predictions. Top by Δscore:

Variant	Effect	Δscore
3:51590365:A:AG	acceptor_gain	1.0000
3:51590366:G:GA	acceptor_gain	1.0000
3:51590366:GC:G	acceptor_gain	1.0000
3:51590366:GCA:G	acceptor_gain	1.0000
3:51590366:GCAC:G	acceptor_gain	1.0000
3:51590366:GCACC:G	acceptor_gain	1.0000
3:51590555:GGATG:G	donor_gain	1.0000
3:51590556:GATG:G	donor_gain	1.0000
3:51590556:GATGG:G	donor_gain	1.0000
3:51590557:ATG:A	donor_gain	1.0000
3:51590557:ATGGT:A	donor_loss	1.0000
3:51590558:TG:T	donor_gain	1.0000
3:51590559:GG:G	donor_gain	1.0000
3:51590559:GGT:G	donor_loss	1.0000
3:51590560:G:GG	donor_gain	1.0000
3:51590561:T:G	donor_loss	1.0000
3:51627542:T:TA	acceptor_gain	1.0000
3:51627551:A:AG	acceptor_gain	1.0000
3:51627552:G:A	acceptor_loss	1.0000
3:51627552:G:GC	acceptor_gain	1.0000
3:51627552:GA:G	acceptor_gain	1.0000
3:51627552:GAC:G	acceptor_gain	1.0000
3:51627552:GACC:G	acceptor_gain	1.0000
3:51627552:GACCC:G	acceptor_gain	1.0000
3:51627753:CGGTG:C	donor_loss	1.0000
3:51627755:G:GG	donor_gain	1.0000
3:51627755:GTGAG:G	donor_loss	1.0000
3:51629327:T:G	acceptor_gain	1.0000
3:51629328:GTTTA:G	acceptor_loss	1.0000
3:51629329:TTTA:T	acceptor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000044650 (3:51560004 G>C), RS1000059712 (3:51561076 T>C), RS1000072247 (3:51567692 A>G), RS1000077384 (3:51559771 C>A), RS1000092566 (3:51568255 C>T), RS1000094532 (3:51593738 CA>C), RS1000097643 (3:51640079 A>C,G), RS1000104486 (3:51591814 A>G), RS1000108546 (3:51614718 G>A), RS1000136035 (3:51588534 C>A,G), RS1000137724 (3:51601549 G>T), RS1000189003 (3:51554783 A>G), RS1000218739 (3:51638236 C>G,T), RS1000281916 (3:51548755 C>T), RS1000332260 (3:51548479 C>A,T)

Disease associations

OMIM: gene MIM:620006 | 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
GCST008058_279	Estimated glomerular filtration rate	4.000000e-07
GCST008059_221	Estimated glomerular filtration rate	2.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Estradiol	increases expression	2
FR900359	affects phosphorylation	1
TAK-243	increases sumoylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
bisphenol S	affects cotreatment, decreases expression	1
(+)-JQ1 compound	increases expression	1
Sunitinib	increases expression	1
Leflunomide	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Dexamethasone	affects cotreatment, decreases expression	1
Enzyme Inhibitors	increases O-linked glycosylation, decreases activity	1
Indomethacin	affects cotreatment, decreases expression	1
Phenobarbital	affects expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	decreases expression	1
Urethane	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	decreases expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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