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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cardiovascular phenotype Likely pathogenic; Pathogenic rs778176957, rs542489955 RCV004990778
RCV002460064
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital muscular dystrophy Likely pathogenic; Pathogenic rs542489955 RCV000415176
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (9 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FKBP14-related disorder Likely pathogenic; Pathogenic rs542489955 RCV004757185
★★★★☆
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
Cervical cancer Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL CONTRACTURAL ARACHNODACTYLY CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity ClinVar
CTD, Disgenet
CTD, Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired Kyphoscoliosis Acquired Kyphoscoliosis BEFREE 24677762
★☆☆☆☆
Found in Text Mining only
Acquired Kyphoscoliosis Acquired Kyphoscoliosis HPO_DG
★☆☆☆☆
Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1 Lateral Sclerosis BEFREE 10077670
★☆☆☆☆
Found in Text Mining only
Aortic Rupture Aortic rupture Pubtator 31949249 Associate
★☆☆☆☆
Found in Text Mining only
Atlantoaxial instability Atlantoaxial abnormality BEFREE 27149304
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 28731139
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 27131312, 27931282
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 28731139
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervix carcinoma Cervix carcinoma BEFREE 28731139
★☆☆☆☆
Found in Text Mining only
Clumsiness - motor delay Motor delay HPO_DG
★☆☆☆☆
Found in Text Mining only