Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2289
Gene name Gene Name - the full gene name approved by the HGNC.
FKBP prolyl isomerase 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FKBP5
Synonyms (NCBI Gene) Gene synonyms aliases
AIG6, FKBP51, FKBP54, P54, PPIase, Ptg-10
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.31
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 FACS, Luciferase reporter assay, qRT-PCR, Western blot 24030073
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602623 3721 ENSG00000096060
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma asthma N/A N/A ClinVar
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Hypothyroidism Hypothyroidism N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 29052817, 34417596
Alzheimer Disease Associate 35205209
Anxiety Associate 23274505, 26424511, 28300138, 28364727, 29466454, 30036794, 30334356, 31908177, 31931271, 33705478, 34715840, 35205209, 38460581
Anxiety Disorders Associate 23406438, 24253961, 24411633, 24756342
Arthritis Rheumatoid Associate 17082220, 36941600
Asthma Associate 39868576
Atrial Fibrillation Associate 25706326
Attention Deficit and Disruptive Behavior Disorders Associate 26228411
Binge Drinking Associate 31931271
Bipolar Disorder Associate 18180755, 24345775, 25522387, 28002634, 28030643, 30524168