PPIL3

Summary

PPIL3 (peptidylprolyl isomerase like 3, HGNC:9262) is a protein-coding gene on chromosome 2q33.1, encoding Peptidyl-prolyl cis-trans isomerase-like 3 (Q9H2H8). PPIases accelerate the folding of proteins.

This gene encodes a member of the cyclophilin family. Cyclophilins catalyze the cis-trans isomerization of peptidylprolyl imide bonds in oligopeptides. They have been proposed to act either as catalysts or as molecular chaperones in protein-folding events. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 53938 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 29 total
• MANE Select transcript: NM_130906

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9262
Approved symbol	PPIL3
Name	peptidylprolyl isomerase like 3
Location	2q33.1
Locus type	gene with protein product
Status	Approved
Aliases	CyPJ
Ensembl gene	ENSG00000240344
Ensembl biotype	protein_coding
OMIM	615811
Entrez	53938

Gene structure

Transcript identifiers

Ensembl transcripts: 54 — 38 protein_coding, 6 retained_intron, 6 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay

ENST00000286175, ENST00000392283, ENST00000409264, ENST00000409361, ENST00000409449, ENST00000415562, ENST00000443398, ENST00000457063, ENST00000463866, ENST00000465823, ENST00000470442, ENST00000487879, ENST00000492074, ENST00000497263, ENST00000497501, ENST00000706557, ENST00000706558, ENST00000706559, ENST00000706560, ENST00000706561, ENST00000706562, ENST00000706563, ENST00000706564, ENST00000899879, ENST00000899880, ENST00000899881, ENST00000899882, ENST00000899883, ENST00000899884, ENST00000899885, ENST00000899886, ENST00000899887, ENST00000899888, ENST00000899889, ENST00000899890, ENST00000917428, ENST00000917429, ENST00000917430, ENST00000917431, ENST00000917432, ENST00000917433, ENST00000917434, ENST00000917435, ENST00000917436, ENST00000917437, ENST00000917438, ENST00000917439, ENST00000917440, ENST00000917441, ENST00000917442, ENST00000952531, ENST00000952532, ENST00000952533, ENST00000952534

RefSeq mRNA: 2 — MANE Select: NM_130906 NM_032472, NM_130906

CCDS: CCDS2332, CCDS2333

Canonical transcript exons

ENST00000392283 — 7 exons

Exon	Start	End
ENSE00001844706	200888956	200889077
ENSE00001902812	200870907	200871521
ENSE00003574225	200887613	200887685
ENSE00003583609	200882342	200882435
ENSE00003621214	200876919	200877037
ENSE00003663057	200885698	200885772
ENSE00003790776	200881421	200881488

Expression profiles

Bgee: expression breadth ubiquitous, 261 present calls, max score 95.81.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.9373 / max 598.3145, expressed in 1789 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
33190	8.4710	1708
33188	6.7414	1667
33187	1.2527	856
33189	0.9574	650
33191	0.3999	196
33192	0.1149	16

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	95.81	gold quality
epithelial cell of pancreas	CL:0000083	95.78	gold quality
ganglionic eminence	UBERON:0004023	95.06	gold quality
embryo	UBERON:0000922	95.05	gold quality
left ventricle myocardium	UBERON:0006566	94.82	gold quality
ventricular zone	UBERON:0003053	94.66	gold quality
secondary oocyte	CL:0000655	94.55	gold quality
right uterine tube	UBERON:0001302	94.50	gold quality
tibialis anterior	UBERON:0001385	94.40	gold quality
oocyte	CL:0000023	94.36	gold quality
germinal epithelium of ovary	UBERON:0001304	94.14	gold quality
tibia	UBERON:0000979	93.54	gold quality
left ovary	UBERON:0002119	93.48	gold quality
skin of hip	UBERON:0001554	93.38	gold quality
upper leg skin	UBERON:0004262	93.38	gold quality
kidney epithelium	UBERON:0004819	93.28	gold quality
granulocyte	CL:0000094	93.27	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.06	gold quality
lymph node	UBERON:0000029	93.05	gold quality
cardiac muscle of right atrium	UBERON:0003379	93.04	gold quality
monocyte	CL:0000576	92.89	gold quality
vermiform appendix	UBERON:0001154	92.88	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.86	gold quality
leukocyte	CL:0000738	92.83	gold quality
cerebellar hemisphere	UBERON:0002245	92.75	gold quality
cerebellar cortex	UBERON:0002129	92.72	gold quality
tibial nerve	UBERON:0001323	92.67	gold quality
ovary	UBERON:0000992	92.64	gold quality
sperm	CL:0000019	92.50	gold quality
corpus epididymis	UBERON:0004359	92.40	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.69
E-MTAB-6524	no	153.71

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

57 targeting PPIL3, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-4663	99.62	65.33	957

Literature-anchored findings (GeneRIF, showing 6)

• The novel full-length gene of human PPIL3 may be correlated with the formation of human glioma. (PMID:15989758)
• Human cyclophilin J, a new member of the cyclophilin family, has been expressed and crystallized. (PMID:16510998)
• Human peptidyl-prolyl isomerase-like 3 (Ppil3) is one of the Apoptin-associated proteins. (PMID:18474220)
• Suppression of CYPJ could repress the growth of HCC, which makes CYPJ a potential target for the development of new strategies to treat this malignancy. (PMID:26020957)
• CYPJ structurally resembles CYPA. It is sensitive to inhibition by CsA and plays a role in regulating cell growth, proliferation, and apoptosis. (PMID:26977013)
• Cyclophilin J expression was up-regulated in gastric carcinoma compared to normal gastric tissues. (PMID:28739742)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ppil3	ENSMUSG00000026035
caenorhabditis_elegans		WBGENE00000886

Paralogs (22): PPIE (ENSG00000084072), PPIL2 (ENSG00000100023), PPIF (ENSG00000108179), PPWD1 (ENSG00000113593), NKTR (ENSG00000114857), PPIL4 (ENSG00000131013), PPIL1 (ENSG00000137168), PPIG (ENSG00000138398), CWC27 (ENSG00000153015), PPIB (ENSG00000166794), PPIC (ENSG00000168938), PPID (ENSG00000171497), PPIH (ENSG00000171960), PPIL6 (ENSG00000185250), PPIA (ENSG00000196262), PPIAL4G (ENSG00000236334), PPIAL4A (ENSG00000263353), PPIAL4H (ENSG00000270339), PPIAL4E (ENSG00000271567), PPIAL4F (ENSG00000279782), PPIAL4C (ENSG00000288867), PPIAL4D (ENSG00000289549)

Protein

Protein identifiers

Peptidyl-prolyl cis-trans isomerase-like 3 — Q9H2H8 (reviewed: Q9H2H8)

Alternative names: Cyclophilin J, Cyclophilin-like protein PPIL3, Rotamase PPIL3

All UniProt accessions (11): Q9H2H8, A0A024R3V4, A0A0S2Z5A8, A0A9L9PX21, A0A9L9PXN9, A0A9L9PY51, B8ZZ77, C9J4N2, C9K058, F8WC82, H7BZ14

UniProt curated annotations — full annotation on UniProt →

Function. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. May be involved in pre-mRNA splicing.

Subunit / interactions. Identified in the spliceosome C complex.

Tissue specificity. Ubiquitous. Detected at low levels.

Similarity. Belongs to the cyclophilin-type PPIase family. PPIL3 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H2H8-1	1, PPIL3b	yes
Q9H2H8-2	2, PPIL3a

RefSeq proteins (2): NP_115861, NP_570981* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002130	Cyclophilin-type_PPIase_dom	Domain
IPR020892	Cyclophilin-type_PPIase_CS	Conserved_site
IPR024936	Cyclophilin-type_PPIase	Family
IPR029000	Cyclophilin-like_dom_sf	Homologous_superfamily
IPR044666	Cyclophilin_A-like	Family

Pfam: PF00160

Enzyme classification (BRENDA):

• EC 5.2.1.8 — peptidylprolyl isomerase (BRENDA: 69 organisms, 374 substrates, 222 inhibitors, 24 Km, 30 kcat entries)

Substrate kinetics (BRENDA)

11 substrates with measured Km, best-characterized 11. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
N-SUCCINYL-ALA-GLU-(TRANS)-PRO-PHE-4-NITROANILID	0.17–0.7	5
N-SUCCINYL-ALA-ALA-(CIS)-PRO-PHE-4-NITROANILIDE	0.104–0.814	2
RNASE T1	0.0004–0.0006	2
SUCCINYL-ALA-ALA-PRO-PHE 4-NITROANILIDE	0.451–1.247	2
SUCCINYL-ALA-LYS-PRO-PHE-4-NITROANILIDE	0.585–0.788	2
ALA-GLY-PSI[CS-N]-PRO-PHE-4-NITROANILIDE	0.53	1
N-SUCCINYL-ALA-LEU-(CIS)-PRO-PHE-4-NITROANILIDE	0.059	1
SUCCINYL-ALA-GLU-PRO-PHE-7-AMIDO-4-METHYLCOUMARI	0.12	1
TRYWNAKMK-(CIS)-PFIFGA	2	1
SUCCINYL-ALA-ALA-(CIS)-PRO-LYS-4-METHYLCOUMARIN-	—	0
SUCCINYL-ALA-ALA-(CIS)-PRO-PHE 4-METHYLCOUMARIN	—	0

Catalyzed reactions (Rhea), 1 shown:

• [protein]-peptidylproline (omega=180) = [protein]-peptidylproline (omega=0) (RHEA:16237)

UniProt features (29 total): strand 11, turn 5, helix 3, sequence conflict 3, modified residue 2, initiator methionine 1, chain 1, domain 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
2OK3	X-RAY DIFFRACTION	2
2OJU	X-RAY DIFFRACTION	2.4
1XYH	X-RAY DIFFRACTION	2.6
8C6J	ELECTRON MICROSCOPY	2.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H2H8-F1	96.39	0.96

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): 2, 61

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-72163	mRNA Splicing - Major Pathway
R-HSA-9918481	Dengue Virus-Host Interactions

MSigDB gene sets: 115 (showing top): STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_PROTEIN_MATURATION, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_RNA_SPLICING, GOBP_PROTEIN_FOLDING, REACTOME_MRNA_SPLICING, REACTOME_METABOLISM_OF_RNA, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOCC_CATALYTIC_STEP_2_SPLICEOSOME, GOCC_SPLICEOSOMAL_COMPLEX, GOCC_RIBONUCLEOPROTEIN_COMPLEX, SCGGAAGY_ELK1_02, MGGAAGTG_GABP_B, GOMF_CIS_TRANS_ISOMERASE_ACTIVITY, YOSHIMURA_MAPK8_TARGETS_DN

GO Biological Process (5): mRNA splicing, via spliceosome (GO:0000398), protein folding (GO:0006457), protein peptidyl-prolyl isomerization (GO:0000413), mRNA processing (GO:0006397), RNA splicing (GO:0008380)

GO Molecular Function (3): peptidyl-prolyl cis-trans isomerase activity (GO:0003755), protein binding (GO:0005515), isomerase activity (GO:0016853)

GO Cellular Component (4): nucleoplasm (GO:0005654), catalytic step 2 spliceosome (GO:0071013), spliceosomal complex (GO:0005681), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
mRNA Splicing	1
Dengue Virus Infection	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	2
cellular anatomical structure	2
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
cellular process	1
protein maturation	1
peptidyl-proline modification	1
mRNA metabolic process	1
cis-trans isomerase activity	1
catalytic activity, acting on a protein	1
binding	1
catalytic activity	1
nuclear lumen	1
Prp19 complex	1
spliceosomal complex	1
U5 snRNP	1
catalytic complex	1
nuclear protein-containing complex	1
ribonucleoprotein complex	1

Protein interactions and networks

STRING

2812 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PPIL3	NIF3L1	Q9GZT8	705
PPIL3	HYCC2	Q8IXS8	616
PPIL3	BZW1	Q7L1Q6	473
PPIL3	NDUFB3	O43676	462
PPIL3	ZNF830	Q96NB3	460
PPIL3	HNRNPM	P52272	457
PPIL3	HSPA8	P11142	456
PPIL3	CRNKL1	Q9BZJ0	442
PPIL3	DHX9	Q08211	413
PPIL3	HNRNPH2	P55795	409
PPIL3	SNRPA1	P09661	404
PPIL3	ITPA	Q9BY32	395
PPIL3	ASCC2	Q9H1I8	387
PPIL3	FKBP3	Q00688	376
PPIL3	HNRNPU	Q00839	373
PPIL3	KCNJ12	Q14500	373

IntAct

46 interactions, top by confidence:

A	B	Type	Score
SLU7	PPIL3	psi-mi:“MI:0915”(physical association)	0.850
PPIL3	SLU7	psi-mi:“MI:0915”(physical association)	0.850
PPIL3	SLU7	psi-mi:“MI:0914”(association)	0.850
CENATAC	PPIL3	psi-mi:“MI:0915”(physical association)	0.560
PPIL3	VP3	psi-mi:“MI:0915”(physical association)	0.530
VP3	PPIL3	psi-mi:“MI:0407”(direct interaction)	0.530
PPIL3	VP3	psi-mi:“MI:0407”(direct interaction)	0.530
rep	SBNO1	psi-mi:“MI:0914”(association)	0.530
PPIL3	PCBP1	psi-mi:“MI:0915”(physical association)	0.370
Cdca5	ATP5MF-PTCD1	psi-mi:“MI:0914”(association)	0.350
Cct4	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
Slc6a8	SSR3	psi-mi:“MI:0914”(association)	0.350
PRSS12	PRPF40A	psi-mi:“MI:0914”(association)	0.350
SNCA	SRRM1	psi-mi:“MI:0914”(association)	0.350
VPS50	PHF20L1	psi-mi:“MI:0914”(association)	0.350
Spire2	KLF4	psi-mi:“MI:0914”(association)	0.350
SGTB	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
SYNCRIP	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
BAG6	CNOT1	psi-mi:“MI:0914”(association)	0.350
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
rep	SBNO1	psi-mi:“MI:0914”(association)	0.350
ODF2	ELAPOR2	psi-mi:“MI:0914”(association)	0.350

BioGRID (120): PPIL3 (Two-hybrid), PPIL3 (Two-hybrid), BAG1 (Co-fractionation), PPIL3 (Co-fractionation), PPIL3 (Co-fractionation), PPIL3 (Co-fractionation), PPIL3 (Co-fractionation), PPIL3 (Co-fractionation), PPIL3 (Co-fractionation), PPIL3 (Co-fractionation), PPIL3 (Co-fractionation), PPIL3 (Co-fractionation), PPIL3 (Co-fractionation), PPIL3 (Co-fractionation), PPIL3 (Co-fractionation)

ESM2 similar proteins: O25982, P0C1I4, P0C1I5, P0CP84, P0CP85, P0CP86, P0CP87, P23285, P29820, P35137, P35176, P52017, P65763, P77949, P84343, P87051, P9WHW2, P9WHW3, Q2FIC1, Q2FZU9, Q2YWT2, Q49W93, Q4L4W9, Q4PCH8, Q4WCR3, Q54E95, Q5ASQ0, Q5E992, Q5HHD1, Q5ZLV2, Q6GAX2, Q6GID4, Q6MWS8, Q7A1C0, Q7A6I1, Q812D3, Q8G0J9, Q8SRE1, Q8X191, Q8YHB5

Diamond homologs: D4AY02, G5EEW6, O42941, O74942, O93826, P0C196, P0C1I4, P0C1I5, P0C1I6, P0C1J0, P0C1J1, P0C1J2, P0CP84, P0CP85, P0CP86, P0CP87, P0CP88, P0CP89, P0CP90, P0CP91, P0CP92, P0CP93, P23284, P23285, P24367, P24369, P34790, P52012, P52013, P52014, P52017, P73789, P80311, P87051, Q08E11, Q09637, Q09928, Q13356, Q17QX9, Q27774

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 50 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.

GO biological processes:

GO term	Partners	Fold	FDR
mRNA splicing, via spliceosome	6	14.8×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	16
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1323 predictions. Top by Δscore:

Variant	Effect	Δscore
2:200871517:TTACC:T	acceptor_gain	1.0000
2:200871518:TACC:T	acceptor_gain	1.0000
2:200871520:CC:C	acceptor_gain	1.0000
2:200871521:CC:C	acceptor_gain	1.0000
2:200871523:T:A	acceptor_loss	1.0000
2:200876911:ATACT:A	donor_loss	1.0000
2:200876913:ACTC:A	donor_loss	1.0000
2:200876914:CTCA:C	donor_gain	1.0000
2:200876915:TCA:T	donor_loss	1.0000
2:200876916:CAC:C	donor_loss	1.0000
2:200876917:A:AC	donor_gain	1.0000
2:200876917:A:C	donor_loss	1.0000
2:200876917:ACTTT:A	donor_gain	1.0000
2:200876918:C:CC	donor_gain	1.0000
2:200876918:CT:C	donor_gain	1.0000
2:200876918:CTT:C	donor_gain	1.0000
2:200876918:CTTT:C	donor_gain	1.0000
2:200876918:CTTTC:C	donor_gain	1.0000
2:200876921:T:A	donor_gain	1.0000
2:200877033:TTGTG:T	acceptor_gain	1.0000
2:200877034:TGTG:T	acceptor_gain	1.0000
2:200877035:GTG:G	acceptor_gain	1.0000
2:200877036:TG:T	acceptor_gain	1.0000
2:200877037:GC:G	acceptor_loss	1.0000
2:200877038:C:CC	acceptor_gain	1.0000
2:200877038:C:CG	acceptor_loss	1.0000
2:200877039:T:C	acceptor_loss	1.0000
2:200881416:TTTA:T	donor_loss	1.0000
2:200881417:TTA:T	donor_loss	1.0000
2:200881418:TACCT:T	donor_loss	1.0000

AlphaMissense

1081 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:200876922:C:T	G119E	0.999
2:200882353:C:T	G54E	0.999
2:200882367:G:C	F49L	0.999
2:200882367:G:T	F49L	0.999
2:200882369:A:G	F49L	0.999
2:200882383:C:A	R44M	0.999
2:200882353:C:A	G54V	0.998
2:200882382:C:A	R44S	0.998
2:200882382:C:G	R44S	0.998
2:200882383:C:G	R44T	0.998
2:200882433:A:C	N27K	0.998
2:200882433:A:T	N27K	0.998
2:200876923:C:G	G119R	0.997
2:200876923:C:T	G119R	0.997
2:200876946:A:G	L111S	0.997
2:200876976:A:G	F101S	0.997
2:200877015:G:A	S88F	0.997
2:200877016:A:G	S88P	0.997
2:200877018:A:T	V87E	0.997
2:200877024:C:T	G85D	0.997
2:200882354:C:G	G54R	0.997
2:200882354:C:T	G54R	0.997
2:200882358:T:A	Q52H	0.997
2:200882358:T:G	Q52H	0.997
2:200882387:G:C	H43D	0.997
2:200882418:A:C	C32W	0.997
2:200876975:G:C	F101L	0.996
2:200876975:G:T	F101L	0.996
2:200876977:A:G	F101L	0.996
2:200877025:C:G	G85R	0.996

dbSNP variants (sampled 300 via entrez): RS1000618467 (2:200873927 C>G), RS1000810807 (2:200887174 C>T), RS1001104223 (2:200879334 T>C), RS1001237722 (2:200873796 C>T), RS1001252818 (2:200879860 T>A), RS1001330121 (2:200886372 T>C), RS1001409875 (2:200879561 G>A), RS1001430638 (2:200886481 A>G), RS1001511209 (2:200874073 C>T), RS1001555976 (2:200880486 C>A), RS1001894617 (2:200879080 T>C), RS1002192619 (2:200874220 A>T), RS1002243435 (2:200873269 T>G), RS1002247469 (2:200885535 G>A), RS1002598742 (2:200890567 C>T)

Disease associations

OMIM: gene MIM:615811 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST003008_2	Triptolide cytotoxicity	6.000000e-07
GCST003842_21	Breast cancer (estrogen-receptor negative)	1.000000e-06
GCST003845_22	Breast cancer	7.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006952	cytotoxicity measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, decreases expression, affects cotreatment	2
Particulate Matter	affects cotreatment, decreases expression, increases abundance	2
dicrotophos	decreases expression	1
tetrahydropalmatine	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
perfluorooctane sulfonic acid	increases expression	1
nutlin 3	affects cotreatment, increases secretion	1
abrine	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, decreases expression	1
Ethanol	affects cotreatment, decreases expression, increases abundance	1
Arsenic	increases abundance, affects cotreatment, decreases expression	1
Cisplatin	increases expression	1
Dactinomycin	affects cotreatment, increases secretion	1
Doxorubicin	decreases expression	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, decreases expression, increases abundance	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Valproic Acid	decreases expression	1
Aflatoxin B1	increases methylation	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1
1-Butanol	affects cotreatment, decreases expression, increases abundance	1

Clinical trials (associated diseases)

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