FKBPL
geneOn this page
Also known as DIR1NG7WISp39
Summary
FKBPL (FKBP prolyl isomerase like, HGNC:13949) is a protein-coding gene on chromosome 6p21.32, encoding FK506-binding protein-like (Q9UIM3). May be involved in response to X-ray.
The protein encoded by this gene has similarity to the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The encoded protein is thought to have a potential role in the induced radioresistance. Also it appears to have some involvement in the control of the cell cycle.
Source: NCBI Gene 63943 — RefSeq curated summary.
At a glance
- GWAS associations: 22
- Clinical variants (ClinVar): 42 total
- MANE Select transcript:
NM_022110
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13949 |
| Approved symbol | FKBPL |
| Name | FKBP prolyl isomerase like |
| Location | 6p21.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DIR1, NG7, WISp39 |
| Ensembl gene | ENSG00000204315 |
| Ensembl biotype | protein_coding |
| OMIM | 617076 |
| Entrez | 63943 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 6 protein_coding
ENST00000375156, ENST00000887777, ENST00000930347, ENST00000930348, ENST00000930349, ENST00000958763
RefSeq mRNA: 1 — MANE Select: NM_022110
NM_022110
CCDS: CCDS4738
Canonical transcript exons
ENST00000375156 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001864878 | 32130095 | 32130288 |
| ENSE00001901420 | 32128707 | 32129854 |
Expression profiles
Bgee: expression breadth ubiquitous, 132 present calls, max score 85.31.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.2412 / max 48.9123, expressed in 1459 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 72888 | 2.5391 | 1363 |
| 72887 | 0.7020 | 394 |
Top tissues by expression
133 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.31 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.87 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 82.42 | gold quality |
| esophagus mucosa | UBERON:0002469 | 79.16 | gold quality |
| skin of leg | UBERON:0001511 | 78.09 | gold quality |
| zone of skin | UBERON:0000014 | 77.55 | gold quality |
| granulocyte | CL:0000094 | 77.09 | gold quality |
| skin of abdomen | UBERON:0001416 | 76.95 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 76.89 | gold quality |
| islet of Langerhans | UBERON:0000006 | 76.42 | gold quality |
| apex of heart | UBERON:0002098 | 75.82 | gold quality |
| body of stomach | UBERON:0001161 | 75.48 | gold quality |
| esophagus | UBERON:0001043 | 75.34 | gold quality |
| blood | UBERON:0000178 | 74.89 | gold quality |
| stromal cell of endometrium | CL:0002255 | 74.75 | gold quality |
| right adrenal gland | UBERON:0001233 | 74.57 | gold quality |
| ventricular zone | UBERON:0003053 | 74.49 | gold quality |
| fundus of stomach | UBERON:0001160 | 74.37 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 74.30 | gold quality |
| pancreas | UBERON:0001264 | 74.23 | gold quality |
| gastrocnemius | UBERON:0001388 | 74.16 | gold quality |
| ganglionic eminence | UBERON:0004023 | 74.12 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 74.08 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 73.86 | gold quality |
| placenta | UBERON:0001987 | 73.72 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 73.72 | gold quality |
| muscle of leg | UBERON:0001383 | 73.62 | gold quality |
| body of pancreas | UBERON:0001150 | 73.58 | gold quality |
| left adrenal gland | UBERON:0001234 | 73.56 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 73.56 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.90 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ESR1
Literature-anchored findings (GeneRIF, showing 16)
- Results demonstrate the importance of posttranslational stabilization of p21 protein by WISp39 in regulating cellular p21 activity. (PMID:15664193)
- FKBPL can be classed as a new member of the FKBP protein family with a role in steroid receptor complexes and signaling. (PMID:18669603)
- Findings suggest that FKBPL may have prognostic value based on its impact on tumor proliferative capacity and sensitivity to endocrine therapies, which improve outcome. (PMID:20103631)
- Alterations in the gene for FKBPL in azoospermic patients. (PMID:20210997)
- Genome-wide association study of age-related macular degeneration identifies TNXB, FKBPL and NOTCH4 as candidate susceptibility genes. (PMID:22694956)
- FKBPL and and its peptide derivative, AD-01 regulate expression of CD44. (PMID:23457460)
- high levels of FKBPL and RBCK1 correlated with increased patient survival, whereas high RBCK1 predicted for a poor response to tamoxifen. (PMID:23912458)
- FKBPL is an important regulator of developmental and pathological angiogenesis. (PMID:25767277)
- WISp39 preferentially interacts with phosphorylated Coronin 1B, allowing it to complex with Slingshot phosphatase to dephosphorylate and activate Cofilin. (PMID:25800056)
- The data suggests a role for FKBPL as a prognostic factor for BCSS, with the potential to be routinely evaluated within the clinic. (PMID:25906750)
- This study identified two low-frequency nonsynonymous variants at FKBPL (rs200847762, OR = 0.34, 95% CI = 0.20-0.57, P = 4.31 x 10-5) and ARPC1B (rs1045012, OR = 0.56, 95% CI = 0.43-0.74, P = 4.30 x 10-5) associated with breast cancer risk. (PMID:27479355)
- Role of A Novel Angiogenesis FKBPL-CD44 Pathway in Preeclampsia Risk Stratification and Mesenchymal Stem Cell Treatment. (PMID:32617576)
- FKBPL and SIRT-1 Are Downregulated by Diabetes in Pregnancy Impacting on Angiogenesis and Endothelial Function. (PMID:34149611)
- A novel mutation in FK506 binding protein-like (FKBPL) causes male infertility. (PMID:34212559)
- Loss of Expression of Antiangiogenic Protein FKBPL in Endometrioid Endometrial Carcinoma: Implications for Clinical Practice. (PMID:36295491)
- FK506-Binding Protein like (FKBPL) Has an Important Role in Heart Failure with Preserved Ejection Fraction Pathogenesis with Potential Diagnostic Utility. (PMID:36830764)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fkbpl | ENSDARG00000095322 |
| mus_musculus | Fkbpl | ENSMUSG00000033739 |
| rattus_norvegicus | Fkbpl | ENSRNOG00000000432 |
| caenorhabditis_elegans | fkb-2 | WBGENE00001427 |
| caenorhabditis_elegans | WBGENE00001429 | |
| caenorhabditis_elegans | fkb-5 | WBGENE00001430 |
| caenorhabditis_elegans | fkb-8 | WBGENE00001433 |
Paralogs (18): FKBP4 (ENSG00000004478), FKBP6 (ENSG00000077800), FKBP7 (ENSG00000079150), FKBP1A (ENSG00000088832), FKBP5 (ENSG00000096060), FKBP3 (ENSG00000100442), FKBP8 (ENSG00000105701), FKBP14 (ENSG00000106080), FKBP15 (ENSG00000119321), FKBP1B (ENSG00000119782), FKBP9 (ENSG00000122642), TTC9 (ENSG00000133985), FKBP11 (ENSG00000134285), FKBP10 (ENSG00000141756), TTC9C (ENSG00000162222), FKBP2 (ENSG00000173486), TTC9B (ENSG00000174521), FKBP1C (ENSG00000198225)
Protein
Protein identifiers
FK506-binding protein-like — Q9UIM3 (reviewed: Q9UIM3)
Alternative names: WAF-1/CIP1 stabilizing protein 39
All UniProt accessions (2): A0A024RCQ6, Q9UIM3
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in response to X-ray. Regulates p21 protein stability by binding to Hsp90 and p21.
Subunit / interactions. Forms a ternary complex with CDKN1A/p21 and HSP90AB1/Hsp90.
Tissue specificity. Ubiquitously expressed with higher levels in testis.
RefSeq proteins (1): NP_071393* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR019734 | TPR_rpt | Repeat |
| IPR050754 | FKBP4/5/8-like | Family |
Pfam: PF00515, PF13432
UniProt features (10 total): repeat 3, mutagenesis site 2, chain 1, region of interest 1, modified residue 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UIM3-F1 | 77.00 | 0.53 |
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 (1): 3
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 287 | abolishes hsp90ab1 binding; when associated with a-291. |
| 291 | abolishes hsp90ab1 binding; when associated with a-287. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8852276 | The role of GTSE1 in G2/M progression after G2 checkpoint |
MSigDB gene sets: 135 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_REGULATION_OF_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE, MARTINEZ_RB1_TARGETS_UP, DOANE_RESPONSE_TO_ANDROGEN_DN, GOBP_BLOOD_VESSEL_MORPHOGENESIS, GOBP_RESPONSE_TO_RADIATION, CYTAGCAAY_UNKNOWN, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE, FISCHER_DREAM_TARGETS, GOBP_BRANCHING_MORPHOGENESIS_OF_AN_EPITHELIAL_TUBE, GOBP_TISSUE_MORPHOGENESIS, GOBP_CIRCULATORY_SYSTEM_DEVELOPMENT
GO Biological Process (3): response to radiation (GO:0009314), regulation of blood vessel branching (GO:1905553), regulation of angiogenesis (GO:0045765)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (2): extracellular region (GO:0005576), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| G2/M Transition | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| response to abiotic stimulus | 1 |
| branching involved in blood vessel morphogenesis | 1 |
| regulation of angiogenesis | 1 |
| regulation of morphogenesis of a branching structure | 1 |
| regulation of morphogenesis of an epithelium | 1 |
| angiogenesis | 1 |
| regulation of anatomical structure morphogenesis | 1 |
| regulation of vasculature development | 1 |
| binding | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
1748 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FKBPL | HSP90AA1 | P07900 | 930 |
| FKBPL | HSP90AB1 | P08238 | 929 |
| FKBPL | ESR1 | P03372 | 621 |
| FKBPL | EGFL8 | Q99944 | 545 |
| FKBPL | DCTN2 | Q13561 | 541 |
| FKBPL | MSH5 | O43196 | 507 |
| FKBPL | CORO1B | Q9BR76 | 490 |
| FKBPL | ST13 | P50502 | 469 |
| FKBPL | FKBP15 | Q5T1M5 | 456 |
| FKBPL | PPID | Q08752 | 435 |
| FKBPL | MMRN2 | Q9H8L6 | 434 |
| FKBPL | TRIM39 | Q9HCM9 | 433 |
| FKBPL | GPSM3 | Q9Y4H4 | 422 |
| FKBPL | FKBP3 | Q00688 | 417 |
| FKBPL | USP19 | O94966 | 410 |
| FKBPL | ATF6B | Q99941 | 410 |
IntAct
72 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CSNK1A1 | FAM83G | psi-mi:“MI:0914”(association) | 0.900 |
| ANKRD49 | FKBPL | psi-mi:“MI:0915”(physical association) | 0.860 |
| CSNK1E | PER2 | psi-mi:“MI:0914”(association) | 0.850 |
| CSNK1D | PER2 | psi-mi:“MI:0914”(association) | 0.810 |
| ANKRD49 | CSNK1E | psi-mi:“MI:0914”(association) | 0.640 |
| FKBPL | CALCOCO2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CALCOCO2 | FKBPL | psi-mi:“MI:0915”(physical association) | 0.560 |
| CSNK1E | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.530 |
| FKBPL | BRAF | psi-mi:“MI:0914”(association) | 0.530 |
| FKBPL | MATR3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FKBPL | IRS4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FKBPL | CFLAR | psi-mi:“MI:0915”(physical association) | 0.400 |
| FKBPL | PSMD3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FKBPL | FBXO24 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FKBPL | BAG2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FKBPL | MOS | psi-mi:“MI:0915”(physical association) | 0.400 |
| FKBPL | RAF1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GNAZ | FKBPL | psi-mi:“MI:0915”(physical association) | 0.400 |
| GNA15 | FKBPL | psi-mi:“MI:0915”(physical association) | 0.400 |
| FKBPL | HSPA2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MLF1 | FKBPL | psi-mi:“MI:0915”(physical association) | 0.400 |
| FKBPL | NLRP12 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NR1H3 | FKBPL | psi-mi:“MI:0915”(physical association) | 0.400 |
| SKP2 | FKBPL | psi-mi:“MI:0915”(physical association) | 0.400 |
| KEAP1 | FKBPL | psi-mi:“MI:0915”(physical association) | 0.400 |
| FKBPL | SIM2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FKBPL | RCN2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| EFTUD2 | FKBPL | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (65): FKBPL (Two-hybrid), FKBPL (Affinity Capture-MS), FKBPL (Affinity Capture-MS), FKBPL (Affinity Capture-MS), NADSYN1 (Affinity Capture-MS), RBCK1 (Affinity Capture-MS), BRAF (Affinity Capture-MS), RNF31 (Affinity Capture-MS), CSNK1E (Affinity Capture-MS), PLS1 (Affinity Capture-MS), EDRF1 (Affinity Capture-MS), FKBPL (Affinity Capture-MS), CTU1 (Affinity Capture-MS), FKBPL (Synthetic Lethality), UNC119 (Two-hybrid)
ESM2 similar proteins: A0JN53, A6NE52, A7E3N7, A8MYJ7, D3ZVB0, D4A615, E1BD59, G3MZC5, O15287, O43299, O75064, O94812, P58660, P60330, Q0P5G1, Q14674, Q1JPD6, Q2VPB7, Q3HNM7, Q3TAP4, Q3U829, Q58EX7, Q5BK61, Q6DT37, Q6NZL6, Q6ZNJ1, Q6ZQA0, Q76MJ5, Q7Z614, Q80TE0, Q80TT2, Q80UW5, Q80VA5, Q8BGI5, Q8BUI3, Q8BYG0, Q8C0Q3, Q8C159, Q8C3R1, Q8CIE4
Diamond homologs: A4K2V0, F4IRM4, F4JTI1, F4K487, K7TQE3, O35450, O48802, Q07617, Q3KRD5, Q6MG81, Q9CYG7, Q9UIM3, O00170, O08915, O97628, Q554J3, Q5FWY5, Q7YRC1, Q924K1, Q95MN7, Q95MN8, Q95MN9, Q95MP0, Q95MP1, Q9JLG9, Q9NZN9, Q9QVC8, A4IFF3, F1RBN2, H9IWW7, P15705, Q02790, Q28IV3, Q32PZ3, Q5RAP0, Q5U2X2, Q68FQ7, Q6NU95, Q75Q39, Q80ZX8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 67 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 |
|---|---|---|---|
| regulation of circadian rhythm | 6 | 25.1× | 7e-05 |
| circadian regulation of gene expression | 5 | 18.9× | 2e-03 |
| positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 5 | 17.0× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
42 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 32 |
| Likely benign | 6 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
106 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:32129852:CAC:C | acceptor_gain | 0.9900 |
| 6:32129853:ACCTG:A | acceptor_loss | 0.9900 |
| 6:32129855:C:CC | acceptor_gain | 0.9900 |
| 6:32129851:GCAC:G | acceptor_gain | 0.9800 |
| 6:32129852:CACC:C | acceptor_gain | 0.9800 |
| 6:32129853:AC:A | acceptor_gain | 0.9700 |
| 6:32129854:CC:C | acceptor_gain | 0.9700 |
| 6:32130039:C:A | donor_gain | 0.9700 |
| 6:32129850:AGCAC:A | acceptor_gain | 0.9600 |
| 6:32130090:AGTAC:A | donor_loss | 0.9600 |
| 6:32130091:GTAC:G | donor_loss | 0.9600 |
| 6:32130092:TACC:T | donor_loss | 0.9600 |
| 6:32130093:A:C | donor_loss | 0.9600 |
| 6:32130094:C:T | donor_loss | 0.9600 |
| 6:32129856:T:G | acceptor_loss | 0.9400 |
| 6:32130095:C:G | donor_loss | 0.9300 |
| 6:32130115:G:C | donor_gain | 0.9100 |
| 6:32129855:C:T | acceptor_gain | 0.9000 |
| 6:32129970:T:A | donor_gain | 0.8600 |
| 6:32130035:AATTC:A | donor_gain | 0.8400 |
| 6:32130154:T:A | donor_gain | 0.8400 |
| 6:32130030:T:TA | donor_gain | 0.8300 |
| 6:32130097:G:A | donor_gain | 0.8200 |
| 6:32130158:T:TA | donor_gain | 0.8200 |
| 6:32130146:A:AC | donor_gain | 0.7700 |
| 6:32130038:T:TA | donor_gain | 0.7600 |
| 6:32129868:C:T | acceptor_gain | 0.7500 |
| 6:32130110:G:A | donor_gain | 0.7500 |
| 6:32129868:C:CT | acceptor_gain | 0.7100 |
| 6:32129824:A:T | acceptor_gain | 0.6900 |
AlphaMissense
2230 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:32129428:G:T | P118H | 0.992 |
| 6:32129463:C:A | K106N | 0.989 |
| 6:32129463:C:G | K106N | 0.989 |
| 6:32128855:A:G | L309P | 0.987 |
| 6:32128737:A:C | F348L | 0.986 |
| 6:32128737:A:T | F348L | 0.986 |
| 6:32128739:A:G | F348L | 0.986 |
| 6:32129205:G:C | F192L | 0.986 |
| 6:32129205:G:T | F192L | 0.986 |
| 6:32129207:A:G | F192L | 0.986 |
| 6:32128816:G:T | A322D | 0.983 |
| 6:32128998:A:C | C261W | 0.982 |
| 6:32128909:C:G | R291P | 0.981 |
| 6:32128913:A:C | Y290D | 0.981 |
| 6:32129095:G:T | A229D | 0.981 |
| 6:32129008:A:G | L258P | 0.980 |
| 6:32129294:A:G | C163R | 0.980 |
| 6:32128999:C:T | C261Y | 0.979 |
| 6:32128956:A:C | C275W | 0.978 |
| 6:32128897:G:T | A295D | 0.975 |
| 6:32129005:G:T | A259D | 0.975 |
| 6:32129131:C:T | G217D | 0.975 |
| 6:32129409:G:C | C124W | 0.975 |
| 6:32128898:C:G | A295P | 0.974 |
| 6:32128920:C:A | K287N | 0.974 |
| 6:32128920:C:G | K287N | 0.974 |
| 6:32129429:G:A | P118S | 0.973 |
| 6:32128903:C:T | G293E | 0.972 |
| 6:32128957:C:T | C275Y | 0.972 |
| 6:32128958:A:G | C275R | 0.972 |
dbSNP variants (sampled 300 via entrez): RS1000439018 (6:32131347 C>G), RS1000814463 (6:32129672 G>A,C), RS1001180453 (6:32131495 A>G), RS1001729851 (6:32131089 T>C), RS1001790787 (6:32131533 G>T), RS1004554070 (6:32131010 G>A,C), RS1005498688 (6:32131106 G>A), RS1006195348 (6:32128657 GCCCCC>G,GC,GCCCC,GCCCCCC), RS1006599742 (6:32130227 G>A), RS1007599659 (6:32128476 G>A,C), RS1008037338 (6:32131640 G>A,T), RS1008993377 (6:32129919 C>T), RS1009941406 (6:32129806 G>A), RS1011564375 (6:32131960 T>G), RS1012030948 (6:32131560 A>T)
Disease associations
OMIM: gene MIM:617076 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
22 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001942_21 | Prostate cancer | 5.000000e-09 |
| GCST003450_2 | Clozapine-induced agranulocytosis/granulocytopenia in treatment-resistant schizophrenia | 3.000000e-09 |
| GCST004131_25 | Inflammatory bowel disease | 2.000000e-31 |
| GCST004133_79 | Ulcerative colitis | 5.000000e-65 |
| GCST004521_114 | Autism spectrum disorder or schizophrenia | 3.000000e-17 |
| GCST004521_117 | Autism spectrum disorder or schizophrenia | 3.000000e-15 |
| GCST004521_118 | Autism spectrum disorder or schizophrenia | 3.000000e-15 |
| GCST004521_126 | Autism spectrum disorder or schizophrenia | 2.000000e-10 |
| GCST004521_154 | Autism spectrum disorder or schizophrenia | 3.000000e-08 |
| GCST004521_17 | Autism spectrum disorder or schizophrenia | 2.000000e-12 |
| GCST004521_170 | Autism spectrum disorder or schizophrenia | 4.000000e-14 |
| GCST004521_173 | Autism spectrum disorder or schizophrenia | 4.000000e-14 |
| GCST004521_209 | Autism spectrum disorder or schizophrenia | 5.000000e-16 |
| GCST004521_211 | Autism spectrum disorder or schizophrenia | 5.000000e-15 |
| GCST004521_213 | Autism spectrum disorder or schizophrenia | 5.000000e-13 |
| GCST004521_226 | Autism spectrum disorder or schizophrenia | 4.000000e-12 |
| GCST004521_296 | Autism spectrum disorder or schizophrenia | 6.000000e-18 |
| GCST004521_45 | Autism spectrum disorder or schizophrenia | 2.000000e-16 |
| GCST004521_81 | Autism spectrum disorder or schizophrenia | 1.000000e-14 |
| GCST005542_1 | Sarcoidosis (non-Lofgren’s syndrome without extrapulmonary manifestations) | 7.000000e-06 |
| GCST005580_265 | Intraocular pressure | 3.000000e-10 |
| GCST005830_112 | Hand grip strength | 4.000000e-11 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004695 | intraocular pressure measurement |
| EFO:0006941 | grip strength measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — Peptidyl-prolyl cis/trans isomerases
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | increases expression, affects binding, increases activity | 1 |
| bisphenol A | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Fulvestrant | increases response to substance | 1 |
| Leflunomide | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cisplatin | increases expression | 1 |
| Coumestrol | increases expression | 1 |
| Cyclophosphamide | increases expression | 1 |
| Estradiol | increases phosphorylation, decreases reaction | 1 |
| Fluorouracil | increases expression | 1 |
| Manganese | increases abundance, increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Tamoxifen | decreases reaction, increases phosphorylation, increases response to substance | 1 |
| Urethane | increases expression | 1 |
| Epirubicin | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
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): sarcoidosis