Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55033
Gene name Gene Name - the full gene name approved by the HGNC.
FKBP prolyl isomerase 14
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FKBP14
Synonyms (NCBI Gene) Gene synonyms aliases
EDSKMH, EDSKSCL2, FKBP22, IPBP12
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p14.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018653 hsa-miR-335-5p Microarray 18185580
MIRT023029 hsa-miR-124-3p Microarray 18668037
MIRT030076 hsa-miR-26b-5p Microarray 19088304
MIRT703559 hsa-miR-4781-3p HITS-CLIP 23313552
MIRT703558 hsa-miR-4635 HITS-CLIP 23313552
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 IEA
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 28514442, 32296183, 33961781
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005788 Component Endoplasmic reticulum lumen IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614505 18625 ENSG00000106080
Protein
UniProt ID Q9NWM8
Protein name Peptidyl-prolyl cis-trans isomerase FKBP14 (PPIase FKBP14) (EC 5.2.1.8) (22 kDa FK506-binding protein) (22 kDa FKBP) (FKBP-22) (FK506-binding protein 14) (FKBP-14) (Rotamase)
Protein function PPIase which accelerates the folding of proteins during protein synthesis. Has a preference for substrates containing 4-hydroxylproline modifications, including type III collagen. May also target type VI and type X collagens. {ECO:0000269|PubMed
PDB 4DIP , 4MSP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00254 FKBP_C 38 132 FKBP-type peptidyl-prolyl cis-trans isomerase Domain
PF13499 EF-hand_7 138 207 EF-hand domain pair Domain
Sequence
Sequence length 211
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    XBP1(S) activates chaperone genes
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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
Ehlers-Danlos Syndrome ehlers-danlos syndrome N/A N/A ClinVar
hypotonia Hypotonia N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Aortic Rupture Associate 31949249
Colorectal Neoplasms Associate 35833665
Developmental Disabilities Associate 31063316
Ehlers Danlos Syndrome Associate 22265013, 31063316, 31482689, 37894834
Ehlers Danlos syndrome type 6 Associate 22265013, 28617417, 31063316, 31288483, 31949249, 34504686, 37433679, 37894834
Epiphyseal dysplasia multiple 1 Associate 24272907
Foot Deformities Associate 31063316
Fragile X Syndrome Associate 31063316
Hearing Loss Associate 22265013, 28617417, 31063316, 31949249
Hearing Loss Sensorineural Associate 22265013