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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
10
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Antidepressant drug treatment, accelerated response to drug response; risk factor rs1360780 RCV000007401
Asthma risk factor rs1581842283 RCV000791245
Post-traumatic stress disorder Likely risk allele rs1360780 RCV002481079
Susceptibility to severe depressive disorder Likely risk allele rs6926133, rs9380525, rs737054, rs9470079, rs4713902, rs4713916 RCV003128203
RCV003128205
RCV003128206
RCV003128207
RCV003128208
RCV003128204
Associations from Text MiningDisease 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