PPIC
gene geneOn this page
Also known as CYPC
Summary
PPIC (peptidylprolyl isomerase C, HGNC:9256) is a protein-coding gene on chromosome 5q23.2, encoding Peptidyl-prolyl cis-trans isomerase C (P45877). PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding.
The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase)) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. Similar to other PPIases, this protein can bind immunosuppressant cyclosporin A.
Source: NCBI Gene 5480 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 28 total
- Druggable target: yes
- MANE Select transcript:
NM_000943
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9256 |
| Approved symbol | PPIC |
| Name | peptidylprolyl isomerase C |
| Location | 5q23.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CYPC |
| Ensembl gene | ENSG00000168938 |
| Ensembl biotype | protein_coding |
| OMIM | 123842 |
| Entrez | 5480 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron
ENST00000306442, ENST00000415659, ENST00000910735, ENST00000910736, ENST00000953401
RefSeq mRNA: 1 — MANE Select: NM_000943
NM_000943
CCDS: CCDS4133
Canonical transcript exons
ENST00000306442 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001120824 | 123025784 | 123025968 |
| ENSE00001120828 | 123028775 | 123028868 |
| ENSE00001120834 | 123029305 | 123029418 |
| ENSE00001126305 | 123036509 | 123036725 |
| ENSE00001251281 | 123023250 | 123024003 |
Expression profiles
Bgee: expression breadth ubiquitous, 284 present calls, max score 99.44.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 41.0314 / max 328.5590, expressed in 1581 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 63148 | 41.0314 | 1581 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibia | UBERON:0000979 | 99.44 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 99.38 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 99.14 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 99.07 | gold quality |
| squamous epithelium | UBERON:0006914 | 98.66 | gold quality |
| skin of hip | UBERON:0001554 | 98.43 | gold quality |
| gingiva | UBERON:0001828 | 98.24 | gold quality |
| gingival epithelium | UBERON:0001949 | 98.12 | gold quality |
| pancreatic ductal cell | CL:0002079 | 98.06 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 97.99 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 97.87 | gold quality |
| periodontal ligament | UBERON:0008266 | 97.87 | gold quality |
| colonic mucosa | UBERON:0000317 | 97.76 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 97.42 | gold quality |
| parotid gland | UBERON:0001831 | 97.33 | gold quality |
| oviduct epithelium | UBERON:0004804 | 97.05 | gold quality |
| upper leg skin | UBERON:0004262 | 96.99 | gold quality |
| cauda epididymis | UBERON:0004360 | 96.98 | gold quality |
| stromal cell of endometrium | CL:0002255 | 96.83 | gold quality |
| cervix epithelium | UBERON:0004801 | 96.83 | gold quality |
| hair follicle | UBERON:0002073 | 96.77 | gold quality |
| heart right ventricle | UBERON:0002080 | 96.67 | gold quality |
| corpus epididymis | UBERON:0004359 | 96.58 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 96.32 | gold quality |
| synovial joint | UBERON:0002217 | 96.30 | gold quality |
| oral cavity | UBERON:0000167 | 96.26 | gold quality |
| myocardium | UBERON:0002349 | 96.18 | gold quality |
| jejunal mucosa | UBERON:0000399 | 96.15 | gold quality |
| vena cava | UBERON:0004087 | 96.10 | gold quality |
| visceral pleura | UBERON:0002401 | 96.00 | gold quality |
Single-cell (SCXA)
Detected in 13 experiment(s), a significant marker in 13.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6701 | yes | 65.28 |
| E-CURD-114 | yes | 55.27 |
| E-MTAB-8410 | yes | 34.41 |
| E-MTAB-5061 | yes | 26.92 |
| E-CURD-112 | yes | 17.66 |
| E-GEOD-125970 | yes | 16.88 |
| E-GEOD-135922 | yes | 12.03 |
| E-GEOD-83139 | yes | 11.03 |
| E-MTAB-9388 | yes | 10.92 |
| E-HCAD-11 | yes | 9.57 |
| E-CURD-46 | yes | 8.04 |
| E-MTAB-6678 | yes | 4.09 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
65 targeting PPIC, 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-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548O-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548W | 99.94 | 71.24 | 3488 |
| HSA-MIR-548Y | 99.94 | 71.28 | 3514 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-498-3P | 99.91 | 71.27 | 1114 |
Literature-anchored findings (GeneRIF, showing 4)
- These findings establish cyclophilin C as an ER cyclophilin, demonstrate the novel involvement of cyclophilins B and C in ER redox homeostasis (PMID:24990953)
- Cyclophilin C participates in cytomegalovirus US2 protein-mediated degradation of major histocompatibility complex class I molecules. (PMID:26691022)
- Independent validation with glioma patients tissue (n = 70) and normal brain tissue (n = 19) found PPIC, EMP3 and CHI3L1 were up-regulated in glioma tissue. Survival value validation showed that the three genes correlated with patient survival by Kaplan-Meir analysis, including grades, age and therapy. (PMID:27801851)
- Cyclophilin C as a Novel Diagnostic and Prognostic Biomarker of Coronary Artery Diseases. A Systematic Review and Meta-Analysis. (PMID:37209796)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| ENSDARG00000104343 | ||
| mus_musculus | Ppic | ENSMUSG00000024538 |
| rattus_norvegicus | Ppic | ENSRNOG00000017416 |
| drosophila_melanogaster | Cyp40 | FBGN0036020 |
| caenorhabditis_elegans | WBGENE00000885 |
Paralogs (22): PPIE (ENSG00000084072), PPIL2 (ENSG00000100023), PPIF (ENSG00000108179), PPWD1 (ENSG00000113593), NKTR (ENSG00000114857), PPIL4 (ENSG00000131013), PPIL1 (ENSG00000137168), PPIG (ENSG00000138398), CWC27 (ENSG00000153015), PPIB (ENSG00000166794), 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 C — P45877 (reviewed: P45877)
Alternative names: Cyclophilin C, Rotamase C
All UniProt accessions (1): P45877
UniProt curated annotations — full annotation on UniProt →
Function. PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding.
Subcellular location. Cytoplasm.
Tissue specificity. Expressed in kidney, skeletal muscle, pancreas, heart, lung, liver and to a lower extent in brain.
Activity regulation. Inhibited by cyclosporin A (CsA).
Similarity. Belongs to the cyclophilin-type PPIase family.
RefSeq proteins (1): NP_000934* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002130 | Cyclophilin-type_PPIase_dom | Domain |
| IPR020892 | Cyclophilin-type_PPIase_CS | Conserved_site |
| IPR029000 | Cyclophilin-like_dom_sf | Homologous_superfamily |
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 (23 total): strand 11, turn 4, helix 3, sequence variant 3, chain 1, domain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2ESL | X-RAY DIFFRACTION | 1.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P45877-F1 | 91.88 | 0.84 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 238 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, LI_CISPLATIN_RESISTANCE_DN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_PAPILLOMA_RISK_LOW_UP, DARWICHE_PAPILLOMA_RISK_HIGH_UP, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, GOBP_PROTEIN_MATURATION, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOTZMANN_EPITHELIAL_TO_MESENCHYMAL_TRANSITION_UP, GOBP_PROTEIN_FOLDING, BASSO_HAIRY_CELL_LEUKEMIA_UP, JECHLINGER_EPITHELIAL_TO_MESENCHYMAL_TRANSITION_UP, WANG_TARGETS_OF_MLL_CBP_FUSION_DN
GO Biological Process (2): protein folding (GO:0006457), protein peptidyl-prolyl isomerization (GO:0000413)
GO Molecular Function (4): peptidyl-prolyl cis-trans isomerase activity (GO:0003755), cyclosporin A binding (GO:0016018), protein binding (GO:0005515), isomerase activity (GO:0016853)
GO Cellular Component (2): cytoplasm (GO:0005737), extracellular exosome (GO:0070062)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| cellular process | 1 |
| protein maturation | 1 |
| peptidyl-proline modification | 1 |
| cis-trans isomerase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| catalytic activity | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
3033 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PPIC | BSG | P35613 | 679 |
| PPIC | LGALS3BP | Q08380 | 602 |
| PPIC | CALM1 | P02593 | 481 |
| PPIC | CALML3 | P27482 | 466 |
| PPIC | CALML6 | Q8TD86 | 466 |
| PPIC | CALML4 | Q96GE6 | 466 |
| PPIC | CALML5 | Q9NZT1 | 466 |
| PPIC | EPRS1 | P07814 | 460 |
| PPIC | MINAR1 | Q9UPX6 | 457 |
| PPIC | PVALB | P20472 | 441 |
| PPIC | APAF1 | O14727 | 430 |
| PPIC | PDCL | Q13371 | 419 |
| PPIC | CD248 | Q9HCU0 | 398 |
| PPIC | CCR5 | P51681 | 396 |
| PPIC | COL1A2 | P02464 | 378 |
IntAct
44 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SGTA | PPIC | psi-mi:“MI:0915”(physical association) | 0.720 |
| PPIC | SGTA | psi-mi:“MI:0915”(physical association) | 0.720 |
| BANP | PPIC | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBAP1 | PPIC | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPIC | UBQLN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBQLN1 | PPIC | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPIC | BANP | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPIC | UBQLN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPIC | SGTB | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM25C | PPIC | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPIC | CAPNS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLEC4A | SEMA7A | psi-mi:“MI:0914”(association) | 0.530 |
| PPIC | P4HA2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PPIC | ARSA | psi-mi:“MI:0915”(physical association) | 0.370 |
| TEX101 | MAP4K4 | psi-mi:“MI:0914”(association) | 0.350 |
| SHTN1 | psi-mi:“MI:0914”(association) | 0.350 | |
| SLC25A14 | PLOD3 | psi-mi:“MI:0914”(association) | 0.350 |
| PPIC | UBQLN2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PPIC | SGTA | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (35): SGTA (Two-hybrid), UBQLN1 (Two-hybrid), UBAP1 (Two-hybrid), BANP (Two-hybrid), PPIC (Co-fractionation), PPIC (Affinity Capture-MS), PPIC (Affinity Capture-MS), PPIC (Affinity Capture-MS), PPIC (Two-hybrid), BANP (Two-hybrid), UBQLN2 (Two-hybrid), FAM25A (Two-hybrid), FAM25G (Two-hybrid), SGTB (Two-hybrid), CAPNS2 (Two-hybrid)
ESM2 similar proteins: B3A0R0, D4AY02, O43447, O49605, O74729, O93826, O94273, P0C1H9, P0C1I0, P0C1I3, P0CP78, P0CP79, P0CP82, P0CP83, P15425, P23284, P23285, P24368, P24369, P25719, P28517, P30412, P35176, P45877, P52013, P52014, P52018, P80311, P84343, Q01490, Q08E11, Q0P5D0, Q26551, Q27774, Q2TZ33, Q2UGK2, Q4I5R9, Q4IPH4, Q4P6X6, Q4WCM6
Diamond homologs: A0A0R0H9T5, A2AR02, A8X8D0, D4AY02, O49605, O49886, O55035, O74729, O93826, O94273, P0C1H7, P0C1H8, P0C1H9, P0C1I1, P0C1I7, P0C1I8, P0C1I9, P0CP82, P0CP83, P14832, P17742, P18253, P21568, P21569, P22011, P24367, P24368, P24525, P25719, P26882, P30414, P30415, P34790, P34791, P35627, P45877, P52009, P52010, P52011, P52015
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
28 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 21 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
935 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:123024000:CTGT:C | acceptor_gain | 1.0000 |
| 5:123024004:C:CC | acceptor_gain | 1.0000 |
| 5:123025779:TTTA:T | donor_loss | 1.0000 |
| 5:123025780:TTA:T | donor_loss | 1.0000 |
| 5:123025781:TACCA:T | donor_loss | 1.0000 |
| 5:123025782:A:AT | donor_loss | 1.0000 |
| 5:123025782:ACCAT:A | donor_gain | 1.0000 |
| 5:123025783:C:CG | donor_loss | 1.0000 |
| 5:123025783:CCAT:C | donor_gain | 1.0000 |
| 5:123025783:CCATC:C | donor_gain | 1.0000 |
| 5:123025786:T:A | donor_gain | 1.0000 |
| 5:123025787:C:A | donor_gain | 1.0000 |
| 5:123025810:C:CT | donor_gain | 1.0000 |
| 5:123025964:CACAC:C | acceptor_gain | 1.0000 |
| 5:123025965:ACAC:A | acceptor_gain | 1.0000 |
| 5:123025966:CAC:C | acceptor_gain | 1.0000 |
| 5:123025966:CACC:C | acceptor_gain | 1.0000 |
| 5:123025969:C:CC | acceptor_gain | 1.0000 |
| 5:123025970:T:G | acceptor_loss | 1.0000 |
| 5:123025975:C:CT | acceptor_gain | 1.0000 |
| 5:123025976:A:T | acceptor_gain | 1.0000 |
| 5:123029300:CATA:C | donor_loss | 1.0000 |
| 5:123029301:ATAC:A | donor_loss | 1.0000 |
| 5:123029302:TA:T | donor_loss | 1.0000 |
| 5:123029303:A:AC | donor_gain | 1.0000 |
| 5:123029304:C:CC | donor_gain | 1.0000 |
| 5:123029304:CCT:C | donor_gain | 1.0000 |
| 5:123029304:CCTCT:C | donor_gain | 1.0000 |
| 5:123029417:ACC:A | acceptor_loss | 1.0000 |
| 5:123029419:C:CG | acceptor_loss | 1.0000 |
AlphaMissense
1388 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:123028834:C:G | R89P | 0.999 |
| 5:123025803:C:T | G164E | 0.998 |
| 5:123025856:G:C | F146L | 0.998 |
| 5:123025856:G:T | F146L | 0.998 |
| 5:123025858:A:G | F146L | 0.998 |
| 5:123025895:G:C | S133R | 0.998 |
| 5:123025895:G:T | S133R | 0.998 |
| 5:123025897:T:G | S133R | 0.998 |
| 5:123028818:G:C | F94L | 0.998 |
| 5:123028818:G:T | F94L | 0.998 |
| 5:123028820:A:G | F94L | 0.998 |
| 5:123025803:C:A | G164V | 0.997 |
| 5:123025827:A:G | L156S | 0.997 |
| 5:123025857:A:G | F146S | 0.997 |
| 5:123025961:G:C | S111R | 0.997 |
| 5:123025961:G:T | S111R | 0.997 |
| 5:123025963:T:G | S111R | 0.997 |
| 5:123029329:A:C | N69K | 0.997 |
| 5:123029329:A:T | N69K | 0.997 |
| 5:123025797:A:T | V166D | 0.996 |
| 5:123025805:A:C | F163L | 0.996 |
| 5:123025805:A:T | F163L | 0.996 |
| 5:123025807:A:G | F163L | 0.996 |
| 5:123025851:A:T | I148N | 0.996 |
| 5:123025868:A:C | N142K | 0.996 |
| 5:123025868:A:T | N142K | 0.996 |
| 5:123025899:A:T | V132D | 0.996 |
| 5:123025943:A:C | F117L | 0.996 |
| 5:123025943:A:T | F117L | 0.996 |
| 5:123025944:A:G | F117S | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000915658 (5:123026816 C>A,G), RS1001074038 (5:123034355 A>G), RS1001178867 (5:123028002 T>C), RS1001295742 (5:123027192 T>C), RS1001733446 (5:123031239 G>T), RS1001783362 (5:123035270 A>G,T), RS1001899276 (5:123025722 T>A,C), RS1001973317 (5:123033505 C>A,G,T), RS1002142314 (5:123032355 C>T), RS1002371062 (5:123025324 C>T), RS1003813604 (5:123022844 G>T), RS1004062911 (5:123036803 G>A), RS1004377592 (5:123038675 AT>A,ATT), RS1004408270 (5:123036568 G>A,C), RS1004937972 (5:123034455 T>C)
Disease associations
OMIM: gene MIM:123842 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000442_5 | Aortic root size | 1.000000e-11 |
| GCST006479_146 | Diverticular disease | 6.000000e-08 |
| GCST010701_69 | Cortical surface area (MOSTest) | 2.000000e-09 |
| GCST010702_176 | Subcortical volume (MOSTest) | 8.000000e-35 |
| GCST010703_344 | Brain morphology (MOSTest) | 4.000000e-10 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009959 | diverticular disease |
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2424505 (SINGLE PROTEIN)
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 |
|---|---|---|---|---|
| 6.93 | Ki | 118 | nM | CHEMBL2424822 |
PubChem BioAssay actives
1 with measured affinity, of 5 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-[(2R,3R)-3-[(2S,5S,11S,14S,17S,20S,23R,26S,29S,32S)-5-ethyl-1,7,10,16,20,23,25,28,31-nonamethyl-11,17,26,29-tetrakis(2-methylpropyl)-3,6,9,12,15,18,21,24,27,30,33-undecaoxo-14,32-di(propan-2-yl)-1,4,7,10,13,16,19,22,25,28,31-undecazacyclotritriacont-2-yl]-3-hydroxy-2-methylpropyl]-3H-benzimidazole-5-carboxylic acid | 770488: Inhibition of CypC PPIase activity (unknown origin) | ki | 0.1180 | uM |
CTD chemical–gene interactions
53 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases methylation, affects cotreatment, increases expression | 9 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| cobaltous chloride | decreases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| entinostat | affects cotreatment, increases expression | 2 |
| belinostat | increases expression, affects cotreatment | 2 |
| Decitabine | affects expression, increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Tretinoin | increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment | 2 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| bisphenol A | increases expression, affects cotreatment | 1 |
| sodium arsenite | decreases expression | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| MRK 003 | decreases expression | 1 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| prothioconazole | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Atrazine | increases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL2428215 | Binding | Inhibition of CypC PPIase activity (unknown origin) | Anti-inflammatory effects of extracellular cyclosporins are exclusively mediated by CD147. — J Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.