Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2288
Gene name Gene Name - the full gene name approved by the HGNC.
FKBP prolyl isomerase 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FKBP4
Synonyms (NCBI Gene) Gene synonyms aliases
FKBP51, FKBP52, FKBP59, HBI, Hsp56, PPIase, p52
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.33
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT050423 hsa-miR-23a-3p CLASH 23622248
MIRT049584 hsa-miR-92a-3p CLASH 23622248
MIRT048140 hsa-miR-197-3p CLASH 23622248
MIRT045461 hsa-miR-149-5p CLASH 23622248
MIRT045461 hsa-miR-149-5p CLASH 23622248
Transcription factors
Transcription factor Regulation Reference
AR Unknown 23192983
HSF1 Unknown 20692357
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674
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 11583998, 12604780, 14638689, 19875381, 20133804, 20188096, 21170051, 21360678, 21730179, 23741051, 25036637, 25277244, 28514442, 32296183, 33961781, 35063084
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600611 3720 ENSG00000004478
Protein
UniProt ID Q02790
Protein name Peptidyl-prolyl cis-trans isomerase FKBP4 (PPIase FKBP4) (EC 5.2.1.8) (51 kDa FK506-binding protein) (FKBP51) (52 kDa FK506-binding protein) (52 kDa FKBP) (FKBP-52) (59 kDa immunophilin) (p59) (FK506-binding protein 4) (FKBP-4) (FKBP59) (HSP-binding immun
Protein function Immunophilin protein with PPIase and co-chaperone activities. Component of steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). May play a role in the intracellular trafficking of heterooligomeric forms of st
PDB 1N1A , 1P5Q , 1Q1C , 1QZ2 , 4DRJ , 4LAV , 4LAW , 4LAX , 4LAY , 4TW8 , 6RCY , 8FFV
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 160 250 FKBP-type peptidyl-prolyl cis-trans isomerase Domain
PF00515 TPR_1 320 352 Tetratricopeptide repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:1279700}.
Sequence
MTAEEMKATESGAQSAPLPMEGVDISPKQDEGVLKVIKREGTGTEMPMIGDRVFVHYTGW
LLDGTKFDSSLDRKDKFSFDLGKGEVIKAWDIAIATMKVGEVCHITCKPEYAYGSAGSPP
KIPPNATLVFEVELF
EFKGEDLTEEEDGGIIRRIQTRGEGYAKPNEGAIVEVALEGYYKD
KLFDQRELRFEIGEGENLDLPYGLERAIQRMEKGEHSIVYLKPSYAFGSVGKEKFQIPPN
AELKYELHLK
SFEKAKESWEMNSEEKLEQSTIVKERGTVYFKEGKYKQALLQYKKIVSWL
EYESSFSNEEAQKAQALRLASHLNLAMCHLKLQAFSAAIESCNKALELDSNNEKGLFRRG
EAHLAVNDFELARADFQKVLQLYPNNKAAKTQLAVCQQRIRRQLAREKKLYANMFERLAE
EENKAKAEASSGDHPTDTEMKEEQKSNTAGSQSQVETEA
Sequence length 459
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)
Attenuation phase
ESR-mediated signaling
Estrogen-dependent gene expression
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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
Hypogonadism Hypogonadism N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37335089
Androgen Insensitivity Syndrome Associate 33182400
Behcet Syndrome Associate 39278467
Breast Neoplasms Associate 19228724, 24927296, 32814092, 35394865
Cap Myopathy Associate 28852180
Carcinoma Associate 31467233
Carcinoma Non Small Cell Lung Stimulate 33354489
Colorectal Neoplasms Associate 15004035
Depressive Disorder Major Associate 19199039, 20726698
Disorders of Sex Development Associate 33182400