FKBP3

Summary

FKBP3 (FKBP prolyl isomerase 3, HGNC:3719) is a protein-coding gene on chromosome 14q21.2, encoding Peptidyl-prolyl cis-trans isomerase FKBP3 (Q00688). FK506- and rapamycin-binding proteins (FKBPs) constitute a family of receptors for the two immunosuppressants which inhibit T-cell proliferation by arresting two distinct cytoplasmic signal transmission pathways.

The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin, as well as histone deacetylases, the transcription factor YY1, casein kinase II, and nucleolin. It has a higher affinity for rapamycin than for FK506 and thus may be an important target molecule for immunosuppression by rapamycin.

Source: NCBI Gene 2287 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 41 total
• Druggable target: yes
• MANE Select transcript: NM_002013

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3719
Approved symbol	FKBP3
Name	FKBP prolyl isomerase 3
Location	14q21.2
Locus type	gene with protein product
Status	Approved
Aliases	FKBP-25, FKBP25
Ensembl gene	ENSG00000100442
Ensembl biotype	protein_coding
OMIM	186947
Entrez	2287

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000216330, ENST00000396062, ENST00000556231, ENST00000557324, ENST00000904114, ENST00000904115, ENST00000931300, ENST00000931301, ENST00000931302

RefSeq mRNA: 1 — MANE Select: NM_002013 NM_002013

CCDS: CCDS9683

Canonical transcript exons

ENST00000396062 — 7 exons

Exon	Start	End
ENSE00001523752	45134349	45134481
ENSE00003490752	45130699	45130800
ENSE00003536367	45129794	45129901
ENSE00003667873	45121485	45121620
ENSE00003847980	45115599	45116252
ENSE00003889558	45120887	45120954
ENSE00003892891	45118028	45118125

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 99.50.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.0908 / max 775.5929, expressed in 1788 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
143041	31.3378	1787
143040	0.7530	350

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.50	gold quality
biceps brachii	UBERON:0001507	99.46	gold quality
vastus lateralis	UBERON:0001379	99.20	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.20	gold quality
quadriceps femoris	UBERON:0001377	99.05	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.92	gold quality
body of tongue	UBERON:0011876	98.88	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.82	gold quality
gastrocnemius	UBERON:0001388	98.67	gold quality
muscle organ	UBERON:0001630	98.67	gold quality
skeletal muscle tissue	UBERON:0001134	98.66	gold quality
sperm	CL:0000019	98.61	gold quality
diaphragm	UBERON:0001103	98.60	gold quality
muscle of leg	UBERON:0001383	98.58	gold quality
heart right ventricle	UBERON:0002080	98.56	gold quality
primary visual cortex	UBERON:0002436	98.55	gold quality
triceps brachii	UBERON:0001509	98.48	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.40	gold quality
ventricular zone	UBERON:0003053	98.37	gold quality
gluteal muscle	UBERON:0002000	98.36	gold quality
cerebellar hemisphere	UBERON:0002245	98.28	gold quality
cerebellar cortex	UBERON:0002129	98.26	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	98.26	gold quality
ganglionic eminence	UBERON:0004023	98.25	gold quality
middle temporal gyrus	UBERON:0002771	98.23	gold quality
right frontal lobe	UBERON:0002810	98.22	gold quality
nucleus accumbens	UBERON:0001882	98.21	gold quality
male germ cell	CL:0000015	98.20	gold quality
embryo	UBERON:0000922	98.13	gold quality
occipital lobe	UBERON:0002021	98.12	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	19.21
E-ANND-3	yes	9.43
E-GEOD-110499	no	1099.75
E-MTAB-9388	no	12.03

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

47 targeting FKBP3, 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-1277-5P	100.00	73.95	5056
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-802	99.61	67.70	1254
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-4480	99.42	66.02	735
HSA-MIR-513A-3P	99.39	70.63	3620
HSA-MIR-513C-3P	99.39	70.63	3620
HSA-MIR-4722-3P	99.35	65.22	1099
HSA-MIR-488-5P	99.28	68.12	821
HSA-MIR-122B-3P	99.21	68.90	1333
HSA-MIR-21-3P	99.21	68.95	1312

Literature-anchored findings (GeneRIF, showing 13)

• FKBP3, a novel regulator of the p53 pathway, induces the degradation of MDM2 and activation of p53. (PMID:19166840)
• structure of a unique N-terminal domain motif in the FKBP family, FKBP25(1-73), high-resolution structures show a new fold composed of five small helices where H3 and H4 are tilted in a novel arrangement; called Basic Tilted Helix Bundle (BTHB) domain. (PMID:24667607)
• FKBP25 is likely recruited to preribosomes to chaperone one of the protein components of the ribosome large subunit. (PMID:24840943)
• proteomics study indicates that the nuclear pool of the FKBP25 targets various nuclear proteins that are crucial for packaging of DNA, chromatin remodeling and pre-mRNA splicing (PMID:24998444)
• Structural basis for nucleic acid recognition by FKBP25 has been uncovered. (PMID:26762975)
• Taken together, these data clearly show that FKBP3/Sp1/HDAC2/p27 control cell proliferation during non-small cell lung cancer development. (PMID:28839465)
• Data show that the N-terminus of FK506 binding protein-25 (FKBP25) is anchored to regions of dsRNA, whereas the FKBP domain is free to interact with neighboring proteins. (PMID:29036638)
• Results demonstrate that FKBP25 is a novel microtubule-associated protein that engages both nucleic acids and microtubules, and that these interactions are controlled by carefully timed phosphorylation events to ensure proper cell division and genome segregation. (PMID:29361176)
• The results identify FKBP25 as a component of the DNA double-strand breaks (DSB) repair pathway. (PMID:30620620)
• FKBP3 Induces Human Immunodeficiency Virus Type 1 Latency by Recruiting Histone Deacetylase 1/2 to the Viral Long Terminal Repeat. (PMID:34281390)
• Esterase D stabilizes FKBP25 to suppress mTORC1. (PMID:34875997)
• Knockdown of FKBP3 suppresses nasopharyngeal carcinoma cell growth, invasion and migration, deactivated NF-kappaB/IL-6 signaling pathway through inhibiting histone deacetylase 2 expression. (PMID:37082996)
• FKBP3, a poor prognostic indicator, promotes the progression of LUAD via regulating ferroptosis and immune infiltration. (PMID:38941396)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	fkbp3	ENSDARG00000098059
mus_musculus	Fkbp3	ENSMUSG00000020949
rattus_norvegicus	Fkbp3	ENSRNOG00000004629
drosophila_melanogaster	zda	FBGN0034368
caenorhabditis_elegans		WBGENE00001429
caenorhabditis_elegans	fkb-5	WBGENE00001430

Paralogs (18): FKBP4 (ENSG00000004478), FKBP6 (ENSG00000077800), FKBP7 (ENSG00000079150), FKBP1A (ENSG00000088832), FKBP5 (ENSG00000096060), FKBP8 (ENSG00000105701), FKBP14 (ENSG00000106080), FKBP15 (ENSG00000119321), FKBP1B (ENSG00000119782), FKBP9 (ENSG00000122642), TTC9 (ENSG00000133985), FKBP11 (ENSG00000134285), FKBP10 (ENSG00000141756), TTC9C (ENSG00000162222), FKBP2 (ENSG00000173486), TTC9B (ENSG00000174521), FKBP1C (ENSG00000198225), FKBPL (ENSG00000204315)

Protein

Protein identifiers

Peptidyl-prolyl cis-trans isomerase FKBP3 — Q00688 (reviewed: Q00688)

Alternative names: 25 kDa FK506-binding protein, FK506-binding protein 3, Immunophilin FKBP25, Rapamycin-selective 25 kDa immunophilin, Rotamase

All UniProt accessions (2): Q00688, G3V5F2

UniProt curated annotations — full annotation on UniProt →

Function. FK506- and rapamycin-binding proteins (FKBPs) constitute a family of receptors for the two immunosuppressants which inhibit T-cell proliferation by arresting two distinct cytoplasmic signal transmission pathways. PPIases accelerate the folding of proteins.

Subcellular location. Nucleus.

Activity regulation. Inhibited preferentially by rapamycin over FK506.

Similarity. Belongs to the FKBP-type PPIase family.

RefSeq proteins (1): NP_002004* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001179	PPIase_FKBP_dom	Domain
IPR041200	FKBP3_BTHB	Domain
IPR043368	FKBP3	Family
IPR046357	PPIase_dom_sf	Homologous_superfamily

Pfam: PF00254, PF18410

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 (30 total): helix 9, strand 7, modified residue 5, turn 3, initiator methionine 1, chain 1, sequence conflict 1, domain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
5GPG	X-RAY DIFFRACTION	1.67
5D75	X-RAY DIFFRACTION	1.83
1PBK	X-RAY DIFFRACTION	2.5
2KFV	SOLUTION NMR
2MPH	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q00688-F1	77.37	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.

Post-translational modifications (5): 2, 36, 99, 152, 170

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 134 (showing top): PID_HDAC_CLASSI_PATHWAY, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, MODULE_453, MUELLER_PLURINET, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, TGIF_01, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, HIF1_Q3, TIEN_INTESTINE_PROBIOTICS_24HR_UP, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, BRACHAT_RESPONSE_TO_METHOTREXATE_DN, JIANG_AGING_CEREBRAL_CORTEX_UP, YAMAZAKI_TCEB3_TARGETS_DN

GO Biological Process (0):

GO Molecular Function (6): RNA binding (GO:0003723), peptidyl-prolyl cis-trans isomerase activity (GO:0003755), FK506 binding (GO:0005528), signaling receptor activity (GO:0038023), protein binding (GO:0005515), isomerase activity (GO:0016853)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nucleic acid binding	1
cis-trans isomerase activity	1
catalytic activity, acting on a protein	1
macrolide binding	1
molecular transducer activity	1
binding	1
catalytic activity	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

3279 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FKBP3	HDAC1	Q13547	898
FKBP3	HDAC2	Q92769	848
FKBP3	MDM2	Q00987	675
FKBP3	YY1	P25490	599
FKBP3	CALM1	P02593	554
FKBP3	CALML3	P27482	544
FKBP3	CALML5	Q9NZT1	544
FKBP3	PRPF39	Q86UA1	521
FKBP3	CALML6	Q8TD86	509
FKBP3	CALML4	Q96GE6	509
FKBP3	FKBP8	Q14318	507
FKBP3	FGFR1	P11362	471
FKBP3	MDFI	Q99750	467
FKBP3	HOMER2	Q9NSB8	464
FKBP3	HOMER3	Q9NSC5	464

IntAct

54 interactions, top by confidence:

A	B	Type	Score
PARP2	FKBP3	psi-mi:“MI:0557”(adp ribosylation reaction)	0.560
SNRNP27	UBA6	psi-mi:“MI:0914”(association)	0.530
FKBP3	MDM2	psi-mi:“MI:0915”(physical association)	0.510
MDM2	FKBP3	psi-mi:“MI:0915”(physical association)	0.510
	FKBP3	psi-mi:“MI:0407”(direct interaction)	0.440
FKBP3	SRPK1	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
ERBB2	FKBP3	psi-mi:“MI:0915”(physical association)	0.370
OTUB1	EPM2A	psi-mi:“MI:0914”(association)	0.350
BCAR1	ARHGEF11	psi-mi:“MI:0914”(association)	0.350
BCAR1	CEP290	psi-mi:“MI:0914”(association)	0.350
NCBP3	RSL1D1	psi-mi:“MI:0914”(association)	0.350
MAPT	MEX3A	psi-mi:“MI:0914”(association)	0.350
MAPT	C11orf98	psi-mi:“MI:0914”(association)	0.350
MAPT	POTEF	psi-mi:“MI:0914”(association)	0.350
APP	ESYT2	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
Pik3r2	EDIL3	psi-mi:“MI:0914”(association)	0.350
NEDD4	HMGB1P1	psi-mi:“MI:0914”(association)	0.350
	SHTN1	psi-mi:“MI:0914”(association)	0.350
PAK4	SNRPE	psi-mi:“MI:0914”(association)	0.350
MAP3K7	ACOT7	psi-mi:“MI:0914”(association)	0.350
RIPK4	TBCA	psi-mi:“MI:0914”(association)	0.350
PRKCZ	PGRMC1	psi-mi:“MI:0914”(association)	0.350
MYLK4	AP3D1	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
AK4	CNN1	psi-mi:“MI:0914”(association)	0.350
ZBTB2	SHTN1	psi-mi:“MI:0914”(association)	0.350

BioGRID (164): CGGBP1 (Co-fractionation), FKBP3 (Affinity Capture-MS), FKBP3 (Proximity Label-MS), FKBP3 (Proximity Label-MS), FKBP3 (Biochemical Activity), FKBP3 (Affinity Capture-MS), FKBP3 (Proximity Label-MS), FKBP3 (Affinity Capture-MS), MTA2 (Reconstituted Complex), FKBP3 (Affinity Capture-MS), FKBP3 (Affinity Capture-MS), FKBP3 (Affinity Capture-Western), FKBP3 (Affinity Capture-Western), HDAC1 (Affinity Capture-Western), HDAC2 (Affinity Capture-Western)

ESM2 similar proteins: A7DTF0, A8XI07, B0E412, E7EZF3, H9IWW7, O44410, O46638, O54998, O60125, O74191, P07273, P07814, P0C1J5, P26884, P49373, P54397, Q00688, Q06205, Q10175, Q13451, Q26486, Q38931, Q3B8Q1, Q43207, Q4PIN7, Q54LA1, Q54NB6, Q5RF88, Q62446, Q64378, Q6C710, Q6VBQ6, Q6VEU3, Q7S9B6, Q7SIA2, Q7YRD0, Q86ZF2, Q8CGC7, Q93ZG9, Q95L05

Diamond homologs: A5IGB8, G0SC91, O04287, O08437, O42123, O42993, O46638, O94746, O95302, P0A0W2, P0A0W3, P0A9L3, P0A9L4, P0C1B0, P0C1J3, P0C1J5, P0C1J6, P0C1J7, P0CP94, P0CP95, P0CP96, P0CP97, P18203, P20081, P26623, P26884, P26885, P27124, P28870, P30416, P31106, P38911, P44760, P45523, P45878, P48375, P51752, P53605, P54397, P56989

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SMURF1	unknown	FKBP3	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	26
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1227 predictions. Top by Δscore:

Variant	Effect	Δscore
14:45118121:TCCCA:T	acceptor_gain	1.0000
14:45118122:CCCA:C	acceptor_gain	1.0000
14:45118122:CCCAC:C	acceptor_gain	1.0000
14:45118123:CCA:C	acceptor_gain	1.0000
14:45118123:CCAC:C	acceptor_gain	1.0000
14:45118124:CA:C	acceptor_gain	1.0000
14:45118124:CAC:C	acceptor_gain	1.0000
14:45118126:C:CC	acceptor_gain	1.0000
14:45118127:T:C	acceptor_loss	1.0000
14:45120885:A:AC	donor_gain	1.0000
14:45120886:C:CC	donor_gain	1.0000
14:45120886:CTCCT:C	donor_gain	1.0000
14:45121478:GACTT:G	donor_loss	1.0000
14:45121479:ACTT:A	donor_loss	1.0000
14:45121480:CTT:C	donor_loss	1.0000
14:45121481:TTAC:T	donor_loss	1.0000
14:45121482:TACTT:T	donor_loss	1.0000
14:45121483:A:AC	donor_gain	1.0000
14:45121484:C:CA	donor_gain	1.0000
14:45121484:CT:C	donor_gain	1.0000
14:45121484:CTT:C	donor_gain	1.0000
14:45121484:CTTG:C	donor_gain	1.0000
14:45121484:CTTGT:C	donor_gain	1.0000
14:45121616:GGACC:G	acceptor_gain	1.0000
14:45121617:GACC:G	acceptor_gain	1.0000
14:45121618:ACC:A	acceptor_gain	1.0000
14:45121619:CC:C	acceptor_gain	1.0000
14:45121619:CCC:C	acceptor_gain	1.0000
14:45121619:CCCTA:C	acceptor_loss	1.0000
14:45121620:CC:C	acceptor_gain	1.0000

AlphaMissense

1475 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:45118125:A:G	W175R	1.000
14:45118125:A:T	W175R	1.000
14:45120888:C:T	G174E	1.000
14:45120889:C:G	G174R	1.000
14:45120889:C:T	G174R	1.000
14:45121504:A:C	F145L	1.000
14:45121504:A:T	F145L	1.000
14:45121505:A:G	F145S	1.000
14:45121506:A:G	F145L	1.000
14:45121529:C:T	G137E	1.000
14:45121536:A:G	Y135H	1.000
14:45121540:G:C	C133W	1.000
14:45121542:A:G	C133R	1.000
14:45121547:A:T	V131D	1.000
14:45121565:G:T	P125H	1.000
14:45116214:A:G	L220S	0.999
14:45116225:A:C	F216L	0.999
14:45116225:A:T	F216L	0.999
14:45116226:A:G	F216S	0.999
14:45116227:A:G	F216L	0.999
14:45116232:A:G	L214P	0.999
14:45116232:A:T	L214H	0.999
14:45116239:C:G	A212P	0.999
14:45116250:A:G	I208T	0.999
14:45118043:C:T	G202E	0.999
14:45118044:C:G	G202R	0.999
14:45118044:C:T	G202R	0.999
14:45118052:C:A	G199V	0.999
14:45118052:C:T	G199E	0.999
14:45118056:A:G	Y198H	0.999

dbSNP variants (sampled 300 via entrez): RS1000219598 (14:45126873 T>C), RS1000272675 (14:45116373 C>T), RS1000335497 (14:45127176 C>T), RS1000346673 (14:45127977 C>A), RS1000438325 (14:45115792 A>G), RS1000445877 (14:45120687 G>A), RS1000530472 (14:45115667 G>A), RS1000677854 (14:45133421 C>A,G,T), RS1000720905 (14:45133607 C>A), RS1000749449 (14:45115976 C>A), RS1000793538 (14:45133084 G>A,C), RS1000948674 (14:45126695 G>A), RS1001057258 (14:45120312 C>G), RS1001235505 (14:45126942 T>C), RS1001552634 (14:45132741 A>G)

Disease associations

OMIM: gene MIM:186947 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST011909_4	Hypertensive renal disease	7.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4746 (SINGLE PROTEIN)

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

ChEMBL bioactivities

1 potent at pChembl≥5 of 3 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.95	Ki	1133	nM	CHEMBL4090599

PubChem BioAssay actives

1 with measured affinity, of 4 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
(1S,5S,6R)-10-(3,5-dichlorophenyl)sulfonyl-5-(methoxymethyl)-3-(pyridin-2-ylmethyl)-3,10-diazabicyclo[4.3.1]decan-2-one	1479802: Displacement of 5-(3-(4-(((5S,6S)-10-(3,5-dichlorophenylsulfonyl)-2-oxo-5-vinyl-3,10-diazabicyclo[4.3.1]decan-3-yl)methyl)-1H-1,2,3-triazol-1-yl)propylcarbamoyl)-2-(6-(dimethylamino)-3-(dimethyliminio)-3,10-dihydroanthracen-9-yl)benzoate from human FKBP25 after 30 mins by fluorescence polarization assay	ki	1.1330	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, increases expression, decreases expression	3
Cyclosporine	decreases expression	3
bisphenol A	affects expression, decreases expression	2
cobaltous chloride	decreases expression	2
Air Pollutants	affects expression, increases abundance, decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
bisphenol F	increases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
pyrogallol 1,3-dimethyl ether	decreases expression, affects localization, increases expression, affects cotreatment	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
coumarin	increases phosphorylation	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
nutlin 3	affects cotreatment, increases secretion	1
bisphenol S	increases expression	1
bisphenol AF	increases expression	1
Sunitinib	decreases expression	1
Arsenic	decreases methylation, increases abundance	1
Caffeine	decreases phosphorylation	1
Dactinomycin	increases secretion, affects cotreatment	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Estradiol	decreases expression	1
Furaldehyde	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Ozone	affects expression, increases abundance	1
Ribonucleotides	affects binding	1
Selenium	decreases expression	1
Smoke	decreases expression, increases abundance	1

ChEMBL screening assays

4 unique, capped per target: 4 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4048817	Binding	Displacement of 5-(3-(4-(((5S,6S)-10-(3,5-dichlorophenylsulfonyl)-2-oxo-5-vinyl-3,10-diazabicyclo[4.3.1]decan-3-yl)methyl)-1H-1,2,3-triazol-1-yl)propylcarbamoyl)-2-(6-(dimethylamino)-3-(dimethyliminio)-3,10-dihydroanthracen-9-yl)benzoate fr	Chemogenomic Profiling of Human and Microbial FK506-Binding Proteins. — J Med Chem

Clinical trials (associated diseases)

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