Human Gene FKBP14 (ENST00000222803.10_6) from GENCODE V47lift37
  Description: FKBP prolyl isomerase 14, transcript variant 3 (from RefSeq NR_046479.2)
Gencode Transcript: ENST00000222803.10_6
Gencode Gene: ENSG00000106080.11_8
Transcript (Including UTRs)
   Position: hg19 chr7:30,050,203-30,066,318 Size: 16,116 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr7:30,054,351-30,066,124 Size: 11,774 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:30,050,203-30,066,318)mRNA (may differ from genome)Protein (211 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FKB14_HUMAN
DESCRIPTION: RecName: Full=Peptidyl-prolyl cis-trans isomerase FKBP14; Short=PPIase FKBP14; EC=5.2.1.8; AltName: Full=22 kDa FK506-binding protein; Short=22 kDa FKBP; Short=FKBP-22; AltName: Full=FK506-binding protein 14; Short=FKBP-14; AltName: Full=Rotamase; Flags: Precursor;
FUNCTION: PPIases accelerate the folding of proteins during protein synthesis.
CATALYTIC ACTIVITY: Peptidylproline (omega=180) = peptidylproline (omega=0).
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen.
DISEASE: Defects in FKBP14 are the cause of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH) [MIM:614557]. A syndrome with features of Ehlers-Danlos syndrome types VIA and VIB on the one hand, and the collagen VI- related congenital myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy on the other hand. Clinically, this disorder is characterized by the following features: severe generalized hypotonia at birth with marked muscle weakness that improve in infancy; early-onset progressive kyphoscoliosis; joint hypermobility without contractures; hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring; myopathy as confirmed by muscle MRI, histology, and electron microscopy; hearing impairment, which is predominantly sensorineural; and a normal ratio of lysyl pyridinoline to hydroxylysyl pyridinoline (LP/HP) in urine.
SIMILARITY: Contains 2 EF-hand domains.
SIMILARITY: Contains 1 PPIase FKBP-type domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FKBP14
Diseases sorted by gene-association score: ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss* (1380), vertical talus, congenital* (283), muscular dystrophy, congenital* (234), ehlers-danlos syndrome, hypermobility type* (231), ehlers-danlos syndrome (13), ullrich congenital muscular dystrophy 1 (5), muscular dystrophy, rigid spine, 1 (5), myopathy (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.32 RPKM in Cells - Cultured fibroblasts
Total median expression: 157.14 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -53.00194-0.273 Picture PostScript Text
3' UTR -1142.404148-0.275 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011992 - EF-hand-like_dom
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2
IPR002048 - EF_hand_Ca-bd
IPR023566 - PPIase_FKBP
IPR001179 - PPIase_FKBP_dom

Pfam Domains:
PF00254 - FKBP-type peptidyl-prolyl cis-trans isomerase
PF13202 - EF hand
PF13499 - EF-hand domain pair

SCOP Domains:
47473 - EF-hand
54534 - FKBP-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
4DIP - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9NWM8
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003755 peptidyl-prolyl cis-trans isomerase activity
GO:0005509 calcium ion binding
GO:0005528 FK506 binding
GO:0016853 isomerase activity
GO:0046872 metal ion binding

Biological Process:
GO:0000413 protein peptidyl-prolyl isomerization
GO:0036498 IRE1-mediated unfolded protein response
GO:0061077 chaperone-mediated protein folding

Cellular Component:
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen


-  Descriptions from all associated GenBank mRNAs
  LF207153 - JP 2014500723-A/14656: Polycomb-Associated Non-Coding RNAs.
JD267371 - Sequence 248395 from Patent EP1572962.
JD088609 - Sequence 69633 from Patent EP1572962.
JD377625 - Sequence 358649 from Patent EP1572962.
JD228959 - Sequence 209983 from Patent EP1572962.
JD281605 - Sequence 262629 from Patent EP1572962.
JD334996 - Sequence 316020 from Patent EP1572962.
JD442739 - Sequence 423763 from Patent EP1572962.
LF362479 - JP 2014500723-A/169982: Polycomb-Associated Non-Coding RNAs.
LF362480 - JP 2014500723-A/169983: Polycomb-Associated Non-Coding RNAs.
LF362481 - JP 2014500723-A/169984: Polycomb-Associated Non-Coding RNAs.
AY358643 - Homo sapiens clone DNA44194 FKBP14 (UNQ322) mRNA, complete cds.
AK000738 - Homo sapiens cDNA FLJ20731 fis, clone HEP10272.
JD472303 - Sequence 453327 from Patent EP1572962.
JD152440 - Sequence 133464 from Patent EP1572962.
JD145101 - Sequence 126125 from Patent EP1572962.
JD361815 - Sequence 342839 from Patent EP1572962.
JD220443 - Sequence 201467 from Patent EP1572962.
JD380877 - Sequence 361901 from Patent EP1572962.
JD228101 - Sequence 209125 from Patent EP1572962.
LF362482 - JP 2014500723-A/169985: Polycomb-Associated Non-Coding RNAs.
JD090659 - Sequence 71683 from Patent EP1572962.
JD138171 - Sequence 119195 from Patent EP1572962.
JD310270 - Sequence 291294 from Patent EP1572962.
JD486179 - Sequence 467203 from Patent EP1572962.
JD344752 - Sequence 325776 from Patent EP1572962.
JD055100 - Sequence 36124 from Patent EP1572962.
JD041671 - Sequence 22695 from Patent EP1572962.
JD169552 - Sequence 150576 from Patent EP1572962.
JD529341 - Sequence 510365 from Patent EP1572962.
JD557440 - Sequence 538464 from Patent EP1572962.
JD326838 - Sequence 307862 from Patent EP1572962.
JD084389 - Sequence 65413 from Patent EP1572962.
JD169551 - Sequence 150575 from Patent EP1572962.
JD372562 - Sequence 353586 from Patent EP1572962.
JD106583 - Sequence 87607 from Patent EP1572962.
JD047517 - Sequence 28541 from Patent EP1572962.
JD135720 - Sequence 116744 from Patent EP1572962.
JD117498 - Sequence 98522 from Patent EP1572962.
JD449474 - Sequence 430498 from Patent EP1572962.
JD267943 - Sequence 248967 from Patent EP1572962.
JD144522 - Sequence 125546 from Patent EP1572962.
JD395746 - Sequence 376770 from Patent EP1572962.
JD345505 - Sequence 326529 from Patent EP1572962.
JD411933 - Sequence 392957 from Patent EP1572962.
JD105266 - Sequence 86290 from Patent EP1572962.
JD329063 - Sequence 310087 from Patent EP1572962.
JD420074 - Sequence 401098 from Patent EP1572962.
JD420073 - Sequence 401097 from Patent EP1572962.
JD329062 - Sequence 310086 from Patent EP1572962.
JD127993 - Sequence 109017 from Patent EP1572962.
JD421695 - Sequence 402719 from Patent EP1572962.
JD180254 - Sequence 161278 from Patent EP1572962.
JD049815 - Sequence 30839 from Patent EP1572962.
JD563257 - Sequence 544281 from Patent EP1572962.
JD060295 - Sequence 41319 from Patent EP1572962.
JD479202 - Sequence 460226 from Patent EP1572962.
AK309552 - Homo sapiens cDNA, FLJ99593.
JD526402 - Sequence 507426 from Patent EP1572962.
JD507975 - Sequence 488999 from Patent EP1572962.
LF362483 - JP 2014500723-A/169986: Polycomb-Associated Non-Coding RNAs.
BC005206 - Homo sapiens FK506 binding protein 14, 22 kDa, mRNA (cDNA clone MGC:12218 IMAGE:4042173), complete cds.
JD043421 - Sequence 24445 from Patent EP1572962.
JD393878 - Sequence 374902 from Patent EP1572962.
JD562943 - Sequence 543967 from Patent EP1572962.
JD052444 - Sequence 33468 from Patent EP1572962.
DQ892525 - Synthetic construct clone IMAGE:100005155; FLH187169.01X; RZPDo839E0672D FK506 binding protein 14, 22 kDa (FKBP14) gene, encodes complete protein.
DQ895737 - Synthetic construct Homo sapiens clone IMAGE:100010197; FLH187165.01L; RZPDo839E0662D FK506 binding protein 14, 22 kDa (FKBP14) gene, encodes complete protein.
CU675039 - Synthetic construct Homo sapiens gateway clone IMAGE:100023349 5' read FKBP14 mRNA.
KJ894116 - Synthetic construct Homo sapiens clone ccsbBroadEn_03510 FKBP14 gene, encodes complete protein.
JQ797475 - Homo sapiens IPBP12 mRNA, complete cds, alternatively spliced.
MA442730 - JP 2018138019-A/14656: Polycomb-Associated Non-Coding RNAs.
MA598056 - JP 2018138019-A/169982: Polycomb-Associated Non-Coding RNAs.
MA598057 - JP 2018138019-A/169983: Polycomb-Associated Non-Coding RNAs.
MA598058 - JP 2018138019-A/169984: Polycomb-Associated Non-Coding RNAs.
MA598059 - JP 2018138019-A/169985: Polycomb-Associated Non-Coding RNAs.
MA598060 - JP 2018138019-A/169986: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NWM8 (Reactome details) participates in the following event(s):

R-HSA-381038 XBP1(S) activates chaperone genes
R-HSA-381070 IRE1alpha activates chaperones
R-HSA-381119 Unfolded Protein Response (UPR)
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000222803.1, ENST00000222803.2, ENST00000222803.3, ENST00000222803.4, ENST00000222803.5, ENST00000222803.6, ENST00000222803.7, ENST00000222803.8, ENST00000222803.9, FKB14_HUMAN, FKBP22, NR_046479, Q9NWM8, uc317dfw.1, uc317dfw.2, UNQ322/PRO381
UCSC ID: ENST00000222803.10_6
RefSeq Accession: NM_017946.4
Protein: Q9NWM8 (aka FKB14_HUMAN or FK14_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene FKBP14:
fkbp14-keds (FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.