Gene Gene information from NCBI Gene database.
Entrez ID 2289
Gene name FKBP prolyl isomerase 5
Gene symbol FKBP5
Synonyms (NCBI Gene)
AIG6FKBP51FKBP54P54PPIasePtg-10
Chromosome 6
Chromosome location 6p21.31
Summary 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
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs4713916 A>C,G,T Drug-response Genic upstream transcript variant, intron variant
miRNA miRNA information provided by mirtarbase database.
447
miRTarBase ID miRNA Experiments Reference
MIRT030843 hsa-miR-21-5p Microarray 18591254
MIRT050456 hsa-miR-22-3p CLASH 23622248
MIRT043776 hsa-miR-328-3p CLASH 23622248
MIRT038745 hsa-miR-93-3p CLASH 23622248
MIRT437605 hsa-miR-100-5p FACSLuciferase reporter assayqRT-PCRWestern blot 24030073
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0003755 Function Peptidyl-prolyl cis-trans isomerase activity IBA
GO:0003755 Function Peptidyl-prolyl cis-trans isomerase activity IDA 11350175
GO:0003755 Function Peptidyl-prolyl cis-trans isomerase activity IEA
GO:0005515 Function Protein binding IPI 14676191, 14743216, 19615732, 19875381, 20562859, 21170051, 21360678, 23455922, 23602568, 24169621, 24981860, 25036637, 25852190, 27086506, 28514442, 29079741, 30021884, 30382094, 32296183, 32707033, 33961781, 34591612, 35271311
GO:0005528 Function FK506 binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602623 3721 ENSG00000096060
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13451
Protein name Peptidyl-prolyl cis-trans isomerase FKBP5 (PPIase FKBP5) (EC 5.2.1.8) (51 kDa FK506-binding protein) (51 kDa FKBP) (FKBP-51) (54 kDa progesterone receptor-associated immunophilin) (Androgen-regulated protein 6) (FF1 antigen) (FK506-binding protein 5) (FKB
Protein function Immunophilin protein with PPIase and co-chaperone activities (PubMed:11350175). Component of unligated steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). Plays a role in the intracellular trafficking of het
PDB 1KT0 , 3O5D , 3O5E , 3O5F , 3O5G , 3O5I , 3O5J , 3O5K , 3O5L , 3O5M , 3O5O , 3O5P , 3O5Q , 3O5R , 4DRH , 4DRI , 4DRK , 4DRM , 4DRN , 4DRO , 4DRP , 4DRQ , 4JFI , 4JFJ , 4JFK , 4JFL , 4JFM , 4R0X , 4TW6 , 4TW7 , 4TX0 , 4W9O , 4W9P , 4W9Q , 5BXJ , 5DIT , 5DIU , 5DIV , 5NJX , 5OBK , 5OMP , 6SAF , 6TX4 , 6TX5 , 6TX6 , 6TX7 , 6TX8 , 6TX9 , 6TXX , 7A6W , 7A6X
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00254 FKBP_C 43 135 FKBP-type peptidyl-prolyl cis-trans isomerase Domain
PF00254 FKBP_C 158 248 FKBP-type peptidyl-prolyl cis-trans isomerase Domain
PF00515 TPR_1 318 350 Tetratricopeptide repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Widely expressed, enriched in testis compared to other tissues.
Sequence
MTTDEGAKNNEESPTATVAEQGEDITSKKDRGVLKIVKRVGNGEETPMIGDKVYVHYKGK
LSNGKKFDSSHDRNEPFVFSLGKGQVIKAWDIGVATMKKGEICHLLCKPEYAYGSAGSLP
KIPSNATLFFEIELL
DFKGEDLFEDGGIIRRTKRKGEGYSNPNEGATVEIHLEGRCGGRM
FDCRDVAFTVGEGEDHDIPIGIDKALEKMQREEQCILYLGPRYGFGEAGKPKFGIEPNAE
LIYEVTLK
SFEKAKESWEMDTKEKLEQAAIVKEKGTVYFKGGKYMQAVIQYGKIVSWLEM
EYGLSEKESKASESFLLAAFLNLAMCYLKLREYTKAVECCDKALGLDSANEKGLYRRGEA
QLLMNEFESAKGDFEKVLEVNPQNKAARLQISMCQKKAKEHNERDRRIYANMFKKFAEQD
AKEEANKAMGKKTSEGVTNEKGTDSQAMEEEKPEGHV
Sequence length 457
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Estrogen signaling pathway   HSP90 chaperone cycle for steroid hormone receptors (SHR)
ESR-mediated signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
27
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Antidepressant drug treatment, accelerated response to drug response; risk factor ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma risk factor ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 18443959, 29113312
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 18443959
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 26467701, 29052817
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 18443959
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 30510241, 31089142
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 23936393
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma GWASCAT_DG 30510241
★☆☆☆☆
Found in Text Mining only
Affective Disorders, Psychotic Affective Psychosis BEFREE 17081296
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 35205209 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 28011744
★☆☆☆☆
Found in Text Mining only