Gene Gene information from NCBI Gene database.
Entrez ID 2288
Gene name FKBP prolyl isomerase 4
Gene symbol FKBP4
Synonyms (NCBI Gene)
FKBP51FKBP52FKBP59HBIHsp56PPIasep52
Chromosome 12
Chromosome location 12p13.33
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
miRNA miRNA information provided by mirtarbase database.
421
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 factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
AR Unknown 23192983
HSF1 Unknown 20692357
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
52
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600611 3720 ENSG00000004478
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
FKBP4-related disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOGONADISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TESTICULAR DISEASE GWAS catalog
★★☆☆☆
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, 19502791, 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 20332323
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 18443959
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 26988706
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 27193821
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 28011744
★☆☆☆☆
Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1 Lateral Sclerosis BEFREE 10077670
★☆☆☆☆
Found in Text Mining only
Androgen Insensitivity Syndrome Androgen insensitivity syndrome Pubtator 33182400 Associate
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 30308028
★☆☆☆☆
Found in Text Mining only