PPIL4
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Summary
PPIL4 (peptidylprolyl isomerase like 4, HGNC:15702) is a protein-coding gene on chromosome 6q25.1, encoding Peptidyl-prolyl cis-trans isomerase-like 4 (Q8WUA2). PPIases accelerate the folding of proteins. It is a common-essential gene (DepMap: required in 94.0% of cancer cell lines).
This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions.
Source: NCBI Gene 85313 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 59 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- Cancer dependency (DepMap): dependent in 94.0% of screened cell lines (common-essential)
- MANE Select transcript:
NM_139126
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15702 |
| Approved symbol | PPIL4 |
| Name | peptidylprolyl isomerase like 4 |
| Location | 6q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000131013 |
| Ensembl biotype | protein_coding |
| OMIM | 607609 |
| Entrez | 85313 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000253329, ENST00000340881, ENST00000876132
RefSeq mRNA: 1 — MANE Select: NM_139126
NM_139126
CCDS: CCDS34550
Canonical transcript exons
ENST00000253329 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000439982 | 149545936 | 149546043 |
| ENSE00000440004 | 149504495 | 149505704 |
| ENSE00000765089 | 149541519 | 149541586 |
| ENSE00000765090 | 149541367 | 149541431 |
| ENSE00000765091 | 149540942 | 149541059 |
| ENSE00000765093 | 149535596 | 149535738 |
| ENSE00000765094 | 149534678 | 149534774 |
| ENSE00000765095 | 149533458 | 149533574 |
| ENSE00000765096 | 149526652 | 149526776 |
| ENSE00000813609 | 149517354 | 149517450 |
| ENSE00001023248 | 149521060 | 149521171 |
| ENSE00001023251 | 149525143 | 149525209 |
| ENSE00003555399 | 149512155 | 149512302 |
Expression profiles
Bgee: expression breadth ubiquitous, 257 present calls, max score 98.32.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.5551 / max 631.5590, expressed in 1792 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 76129 | 21.0914 | 1788 |
| 76130 | 1.4637 | 976 |
Top tissues by expression
260 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 98.32 | gold quality |
| tendon | UBERON:0000043 | 95.35 | gold quality |
| colonic epithelium | UBERON:0000397 | 92.79 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 92.07 | gold quality |
| left ovary | UBERON:0002119 | 90.29 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.15 | gold quality |
| ventricular zone | UBERON:0003053 | 89.93 | gold quality |
| adrenal tissue | UBERON:0018303 | 89.88 | gold quality |
| right ovary | UBERON:0002118 | 89.64 | gold quality |
| ovary | UBERON:0000992 | 89.54 | gold quality |
| endometrium | UBERON:0001295 | 89.52 | gold quality |
| islet of Langerhans | UBERON:0000006 | 89.24 | gold quality |
| thymus | UBERON:0002370 | 88.89 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 88.71 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 88.61 | gold quality |
| ganglionic eminence | UBERON:0004023 | 88.57 | gold quality |
| embryo | UBERON:0000922 | 88.56 | gold quality |
| thyroid gland | UBERON:0002046 | 88.55 | gold quality |
| medial globus pallidus | UBERON:0002477 | 88.03 | gold quality |
| adenohypophysis | UBERON:0002196 | 88.02 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 87.97 | gold quality |
| nasopharynx | UBERON:0001728 | 87.96 | gold quality |
| omental fat pad | UBERON:0010414 | 87.90 | gold quality |
| peritoneum | UBERON:0002358 | 87.89 | gold quality |
| corpus callosum | UBERON:0002336 | 87.83 | gold quality |
| gall bladder | UBERON:0002110 | 87.81 | gold quality |
| uterus | UBERON:0000995 | 87.72 | gold quality |
| seminal vesicle | UBERON:0000998 | 87.70 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 87.64 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 87.63 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.64 |
| E-ENAD-17 | no | 524.59 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
92 targeting PPIL4, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-3912-5P | 99.95 | 66.11 | 925 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 94.0% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 2)
- Molecular cloning, structure and expression of a novel nuclear RNA-binding cyclophilin-like gene (PPIL4) from human fetal brain (PMID:11978968)
- PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans. (PMID:34887573)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ppil4 | ENSDARG00000043854 |
| mus_musculus | Ppil4 | ENSMUSG00000015757 |
| rattus_norvegicus | Ppil4 | ENSRNOG00000015552 |
| drosophila_melanogaster | CG5808 | FBGN0027617 |
| caenorhabditis_elegans | sig-7 | WBGENE00000890 |
Paralogs (22): PPIE (ENSG00000084072), PPIL2 (ENSG00000100023), PPIF (ENSG00000108179), PPWD1 (ENSG00000113593), NKTR (ENSG00000114857), PPIL1 (ENSG00000137168), PPIG (ENSG00000138398), CWC27 (ENSG00000153015), PPIB (ENSG00000166794), PPIC (ENSG00000168938), PPID (ENSG00000171497), PPIH (ENSG00000171960), PPIL6 (ENSG00000185250), PPIA (ENSG00000196262), PPIAL4G (ENSG00000236334), PPIL3 (ENSG00000240344), PPIAL4A (ENSG00000263353), PPIAL4H (ENSG00000270339), PPIAL4E (ENSG00000271567), PPIAL4F (ENSG00000279782), PPIAL4C (ENSG00000288867), PPIAL4D (ENSG00000289549)
Protein
Protein identifiers
Peptidyl-prolyl cis-trans isomerase-like 4 — Q8WUA2 (reviewed: Q8WUA2)
Alternative names: Cyclophilin-like protein PPIL4, Rotamase PPIL4
All UniProt accessions (2): Q8WUA2, Q5T4S2
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.
Subcellular location. Nucleus.
Tissue specificity. Abundantly expressed in kidney but has a ubiquitously low expression pattern in other adult tissues.
Similarity. Belongs to the cyclophilin-type PPIase family. PPIL4 subfamily.
RefSeq proteins (1): NP_624311* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR002130 | Cyclophilin-type_PPIase_dom | Domain |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR029000 | Cyclophilin-like_dom_sf | Homologous_superfamily |
| IPR035538 | Cyclophilin_PPIL4 | Domain |
| IPR035542 | CRIP | Family |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
Pfam: PF00076, PF00160
Catalyzed reactions (Rhea), 1 shown:
- [protein]-peptidylproline (omega=180) = [protein]-peptidylproline (omega=0) (RHEA:16237)
UniProt features (50 total): strand 19, cross-link 7, helix 5, modified residue 4, turn 4, compositionally biased region 4, region of interest 3, domain 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
7 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8I0T | ELECTRON MICROSCOPY | 3 |
| 8I0V | ELECTRON MICROSCOPY | 3 |
| 7QTT | ELECTRON MICROSCOPY | 3.1 |
| 8I0U | ELECTRON MICROSCOPY | 3.3 |
| 9DWV | ELECTRON MICROSCOPY | 3.5 |
| 8I0S | ELECTRON MICROSCOPY | 4.2 |
| 8CH6 | ELECTRON MICROSCOPY | 5.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WUA2-F1 | 69.56 | 0.35 |
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 (11): 178, 182, 393, 471, 201, 212, 218, 321, 362, 405, 460
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: 116 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, EFC_Q6, chr6q25, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_RNA_SPLICING, REACTOME_MRNA_SPLICING, FONTAINE_PAPILLARY_THYROID_CARCINOMA_DN, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, REACTOME_METABOLISM_OF_RNA, GOCC_U2_TYPE_SPLICEOSOMAL_COMPLEX, WGGAATGY_TEF1_Q6, GOCC_SPLICEOSOMAL_COMPLEX
GO Biological Process (1): protein peptidyl-prolyl isomerization (GO:0000413)
GO Molecular Function (5): RNA binding (GO:0003723), peptidyl-prolyl cis-trans isomerase activity (GO:0003755), nucleic acid binding (GO:0003676), protein binding (GO:0005515), isomerase activity (GO:0016853)
GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829)
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 |
|---|---|
| binding | 2 |
| cellular anatomical structure | 2 |
| peptidyl-proline modification | 1 |
| nucleic acid binding | 1 |
| cis-trans isomerase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
2764 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PPIL4 | FKBP6 | O75344 | 826 |
| PPIL4 | FKBP2 | P26885 | 685 |
| PPIL4 | TRIP12 | Q14669 | 590 |
| PPIL4 | FBXO38 | Q6PIJ6 | 562 |
| PPIL4 | USP11 | P51784 | 512 |
| PPIL4 | SYF2 | O95926 | 494 |
| PPIL4 | PPM1G | O15355 | 465 |
| PPIL4 | SLC7A4 | O43246 | 450 |
| PPIL4 | TCEAL4 | Q96EI5 | 447 |
| PPIL4 | SLC15A4 | Q8N697 | 429 |
| PPIL4 | ZNF622 | Q969S3 | 427 |
| PPIL4 | DHX40 | Q8IX18 | 419 |
| PPIL4 | PCMT1 | P22061 | 419 |
| PPIL4 | SF3A1 | Q15459 | 401 |
| PPIL4 | DDX24 | Q9GZR7 | 391 |
IntAct
74 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DHX38 | DHX16 | psi-mi:“MI:0914”(association) | 0.630 |
| PAX6 | PPIL4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DLG2 | PPIL4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNRNP27 | UBA6 | psi-mi:“MI:0914”(association) | 0.530 |
| NAGK | ZBTB43 | psi-mi:“MI:0914”(association) | 0.530 |
| PES1 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| ORC6 | DCTN6 | psi-mi:“MI:0914”(association) | 0.530 |
| AMMECR1 | HNRNPF | psi-mi:“MI:0914”(association) | 0.530 |
| NCBP3 | SAP18 | psi-mi:“MI:0914”(association) | 0.530 |
| DHX40 | TRIM27 | psi-mi:“MI:0914”(association) | 0.530 |
| CHERP | PPIL4 | psi-mi:“MI:0915”(physical association) | 0.520 |
| NSRP1 | PPIL4 | psi-mi:“MI:0914”(association) | 0.480 |
| H4C16 | PPIL4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PPIL4 | SUOX | psi-mi:“MI:0915”(physical association) | 0.400 |
| SDC1 | ILVBL | psi-mi:“MI:0915”(physical association) | 0.400 |
| SMAD5 | PPIL4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Junb | RGPD3 | psi-mi:“MI:0914”(association) | 0.350 |
| XRCC3 | DERL1 | psi-mi:“MI:0914”(association) | 0.350 |
| EMC2 | TBL2 | psi-mi:“MI:0914”(association) | 0.350 |
| MMGT1 | DERL1 | psi-mi:“MI:0914”(association) | 0.350 |
| USP7 | STIL | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| TTC29 | DHX16 | psi-mi:“MI:0914”(association) | 0.350 |
| JMJD6 | U2SURP | psi-mi:“MI:0914”(association) | 0.350 |
| LUC7L2 | CASC3 | psi-mi:“MI:0914”(association) | 0.350 |
| RAB3IL1 | PPFIA3 | psi-mi:“MI:0914”(association) | 0.350 |
| TMA16 | SEC24D | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (200): PPIL4 (Affinity Capture-MS), PPIL4 (Affinity Capture-MS), PPIL4 (Affinity Capture-MS), PPIL4 (Affinity Capture-MS), CCAR2 (Co-fractionation), PPIL4 (Co-fractionation), PPIL4 (Affinity Capture-MS), PPIL4 (Affinity Capture-MS), PPIL4 (Affinity Capture-MS), PPIL4 (Affinity Capture-MS), PPIL4 (Affinity Capture-MS), PPIL4 (Affinity Capture-MS), PPIL4 (Affinity Capture-MS), PPIL4 (Affinity Capture-MS), PPIL4 (Affinity Capture-MS)
ESM2 similar proteins: A3GEV2, A5E032, A8X8D0, C8VBH4, F4K2E9, G5EEW6, O18017, O42941, O74942, O95251, P0C1I6, P0C1I9, P0C1J0, P0C1J2, P0CP88, P0CP89, P25334, P32783, P34498, P52012, P52016, Q02770, Q09637, Q09928, Q17R09, Q19546, Q26548, Q29RZ2, Q2U256, Q4IBK5, Q4IE79, Q4IEV4, Q4P3S3, Q4WAQ9, Q5ARI5, Q5NVL7, Q6C710, Q6CGK4, Q6Q151, Q6Q152
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 96 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 | 14.3× | 2e-06 |
| Processing of Capped Intron-Containing Pre-mRNA | 11 | 13.1× | 1e-07 |
| mRNA Splicing - Major Pathway | 16 | 12.7× | 3e-11 |
| mRNA Polyadenylation | 7 | 8.9× | 1e-03 |
| Dengue Virus-Host Interactions | 11 | 7.3× | 3e-05 |
| Metabolism of RNA | 9 | 5.4× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitotic spindle organization | 5 | 15.6× | 5e-03 |
| mRNA splicing, via spliceosome | 13 | 13.7× | 6e-09 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
59 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 47 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2424 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:149505703:TCC:T | acceptor_loss | 1.0000 |
| 6:149505705:CTGT:C | acceptor_loss | 1.0000 |
| 6:149517333:A:AC | donor_gain | 1.0000 |
| 6:149517334:C:CC | donor_gain | 1.0000 |
| 6:149517355:C:CA | donor_gain | 1.0000 |
| 6:149525138:CATA:C | donor_loss | 1.0000 |
| 6:149525140:TACC:T | donor_loss | 1.0000 |
| 6:149525142:C:CA | donor_loss | 1.0000 |
| 6:149525205:CACAA:C | acceptor_gain | 1.0000 |
| 6:149525207:CAA:C | acceptor_gain | 1.0000 |
| 6:149525208:AA:A | acceptor_gain | 1.0000 |
| 6:149525210:C:CA | acceptor_loss | 1.0000 |
| 6:149525210:C:CC | acceptor_gain | 1.0000 |
| 6:149526646:GATTA:G | donor_loss | 1.0000 |
| 6:149526647:ATTAC:A | donor_loss | 1.0000 |
| 6:149526648:TTACC:T | donor_loss | 1.0000 |
| 6:149526651:CCTT:C | donor_gain | 1.0000 |
| 6:149526651:CCTTC:C | donor_loss | 1.0000 |
| 6:149526697:T:C | donor_gain | 1.0000 |
| 6:149526773:CCAC:C | acceptor_gain | 1.0000 |
| 6:149526774:CACC:C | acceptor_gain | 1.0000 |
| 6:149526775:ACCTA:A | acceptor_loss | 1.0000 |
| 6:149526778:T:A | acceptor_loss | 1.0000 |
| 6:149533452:T:C | donor_gain | 1.0000 |
| 6:149533452:TCTTA:T | donor_loss | 1.0000 |
| 6:149533453:CTTAC:C | donor_loss | 1.0000 |
| 6:149533454:TTA:T | donor_loss | 1.0000 |
| 6:149533455:TAC:T | donor_loss | 1.0000 |
| 6:149533456:A:AC | donor_gain | 1.0000 |
| 6:149533456:AC:A | donor_gain | 1.0000 |
AlphaMissense
3313 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:149521090:A:G | S318P | 1.000 |
| 6:149521091:C:A | Q317H | 1.000 |
| 6:149521091:C:G | Q317H | 1.000 |
| 6:149521094:G:C | S316R | 1.000 |
| 6:149521094:G:T | S316R | 1.000 |
| 6:149521096:T:G | S316R | 1.000 |
| 6:149521097:A:C | F315L | 1.000 |
| 6:149521097:A:T | F315L | 1.000 |
| 6:149521098:A:G | F315S | 1.000 |
| 6:149521099:A:G | F315L | 1.000 |
| 6:149521104:A:T | V313E | 1.000 |
| 6:149521108:G:C | H312D | 1.000 |
| 6:149521110:A:C | I311R | 1.000 |
| 6:149521110:A:G | I311T | 1.000 |
| 6:149521110:A:T | I311K | 1.000 |
| 6:149521112:T:A | R310S | 1.000 |
| 6:149521112:T:G | R310S | 1.000 |
| 6:149521113:C:G | R310T | 1.000 |
| 6:149521121:A:C | D307E | 1.000 |
| 6:149521121:A:T | D307E | 1.000 |
| 6:149521122:T:A | D307V | 1.000 |
| 6:149521123:C:G | D307H | 1.000 |
| 6:149521125:A:T | I306K | 1.000 |
| 6:149521128:A:G | L305P | 1.000 |
| 6:149521128:A:T | L305H | 1.000 |
| 6:149521139:C:A | M301I | 1.000 |
| 6:149521139:C:G | M301I | 1.000 |
| 6:149521139:C:T | M301I | 1.000 |
| 6:149521140:A:G | M301T | 1.000 |
| 6:149521160:A:C | C294W | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000146145 (6:149535993 T>C), RS1000207476 (6:149547863 T>G), RS1000255004 (6:149511457 C>T), RS1000287239 (6:149529533 C>A,T), RS1000314723 (6:149531328 G>A), RS1000446045 (6:149537719 GAAT>G), RS1000504895 (6:149530721 A>G), RS1000531095 (6:149543102 T>C), RS1000565201 (6:149523713 A>C), RS1000676604 (6:149524012 T>A,C), RS1000800046 (6:149506061 C>G,T), RS1000860672 (6:149538065 G>A), RS1000939108 (6:149510178 A>G), RS1000990214 (6:149519403 A>C,G), RS1001102337 (6:149536566 A>C)
Disease associations
OMIM: gene MIM:607609 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002318_75 | Rheumatoid arthritis | 3.000000e-09 |
| GCST002318_89 | Rheumatoid arthritis | 5.000000e-08 |
| GCST006959_118 | Rheumatoid arthritis | 7.000000e-07 |
| GCST006959_97 | Rheumatoid arthritis | 5.000000e-06 |
| GCST010702_29 | Subcortical volume (MOSTest) | 7.000000e-11 |
| GCST010703_317 | Brain morphology (MOSTest) | 7.000000e-22 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5725153 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.12 | IC50 | 7610 | nM | MOLIBRESIB |
PubChem BioAssay actives
1 with measured affinity, of 6 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 |
|---|---|---|---|---|
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2179043: Inhibition of PPIL4 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | ic50 | 7.6100 | uM |
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects methylation, increases abundance, increases expression | 3 |
| Valproic Acid | decreases expression, affects cotreatment, increases expression | 3 |
| Quercetin | affects expression, decreases expression | 2 |
| aristolochic acid I | decreases expression, increases expression | 1 |
| GSK-J4 | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| K 7174 | increases expression | 1 |
| abrine | increases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Cadmium | increases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Catechin | affects cotreatment, increases expression | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Formaldehyde | increases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Manganese | increases abundance, increases expression | 1 |
| Methotrexate | increases expression | 1 |
ChEMBL screening assays
6 unique, capped per target: 6 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5697773 | Binding | Inhibition of PPIL4 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): rheumatoid arthritis