Gene Gene information from NCBI Gene database.
Entrez ID 55033
Gene name FKBP prolyl isomerase 14
Gene symbol FKBP14
Synonyms (NCBI Gene)
EDSKMHEDSKSCL2FKBP22IPBP12
Chromosome 7
Chromosome location 7p14.3
Summary 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.
726
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614505 18625 ENSG00000106080
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
307
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiovascular phenotype Likely pathogenic; Pathogenic rs778176957, rs542489955 RCV004990778
RCV002460064
Congenital muscular dystrophy Likely pathogenic; Pathogenic rs542489955 RCV000415176
Ehlers-Danlos syndrome, kyphoscoliotic type, 2 Pathogenic; Likely pathogenic rs2127950876, rs2127949580, rs747353360, rs753355121, rs775594340, rs542489955, rs1790069483, rs770271683, rs1562840744, rs1430849353, rs1583738732, rs1583734485, rs1583725395, rs758622304 RCV001380251
RCV001960107
RCV000148990
RCV002574060
RCV003226828
RCV000533832
RCV003531012
RCV000024197
RCV000687575
RCV000736019
RCV000813591
RCV000984515
RCV000995548
RCV001215138
FKBP14-related disorder Likely pathogenic; Pathogenic rs542489955 RCV004757185
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Conflicting classifications of pathogenicity rs763069544 RCV005912871
Ehlers-Danlos syndrome Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity rs752455232, rs17150692, rs148034796, rs143268242, rs762279651, rs542254849, rs747381671 RCV002278045
RCV002279183
RCV002279211
RCV002279213
RCV002279276
RCV002279278
RCV002279558
Thymoma Likely benign rs375827354 RCV005912925
Uterine corpus endometrial carcinoma Likely benign rs375827354 RCV005912926
Associations from Text MiningDisease 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