Gene Gene information from NCBI Gene database.
Entrez ID 2287
Gene name FKBP prolyl isomerase 3
Gene symbol FKBP3
Synonyms (NCBI Gene)
FKBP-25FKBP-3FKBP25PPIase
Chromosome 14
Chromosome location 14q21.2
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.
91
miRTarBase ID miRNA Experiments Reference
MIRT021002 hsa-miR-155-5p Proteomics 18668040
MIRT027824 hsa-miR-98-5p Microarray 19088304
MIRT038728 hsa-miR-93-3p CLASH 23622248
MIRT997388 hsa-let-7a CLIP-seq
MIRT997389 hsa-let-7b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674
GO:0003755 Function Peptidyl-prolyl cis-trans isomerase activity IEA
GO:0005515 Function Protein binding IPI 19166840, 21812934
GO:0005528 Function FK506 binding TAS 1374240
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
186947 3719 ENSG00000100442
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q00688
Protein name Peptidyl-prolyl cis-trans isomerase FKBP3 (PPIase FKBP3) (EC 5.2.1.8) (25 kDa FK506-binding protein) (25 kDa FKBP) (FKBP-25) (FK506-binding protein 3) (FKBP-3) (Immunophilin FKBP25) (Rapamycin-selective 25 kDa immunophilin) (Rotamase)
Protein function FK506- and rapamycin-binding proteins (FKBPs) constitute a family of receptors for the two immunosuppressants which inhibit T-cell proliferation by arresting two distinct cytoplasmic signal transmission pathways. PPIases accelerate the folding o
PDB 1PBK , 2KFV , 2MPH , 5D75 , 5GPG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18410 BTHB 6 77 Basic tilted helix bundle domain Domain
PF00254 FKBP_C 121 221 FKBP-type peptidyl-prolyl cis-trans isomerase Domain
Sequence
Sequence length 224
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
HYPERTENSIVE NEPHROPATHY 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
AMYOTROPHIC LATERAL SCLEROSIS 1 Lateral Sclerosis BEFREE 10077670
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus Pubtator 33491460 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 37082996 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 40179422 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 31524278
★☆☆☆☆
Found in Text Mining only
Nasopharyngeal Carcinoma Nasopharyngeal carcinoma Pubtator 37082996 Stimulate
★☆☆☆☆
Found in Text Mining only
Non-Small Cell Lung Carcinoma Lung carcinoma BEFREE 28839465
★☆☆☆☆
Found in Text Mining only
Osteoglophonic dwarfism Osteoglosphonic dysplasia BEFREE 29969783
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease BEFREE 31830361
★☆☆☆☆
Found in Text Mining only
Stomach Diseases Stomach Diseases BEFREE 29148176
★☆☆☆☆
Found in Text Mining only