FKBP14 gene homepage

General information
Gene symbol FKBP14
Gene name FK506 binding protein 14, 22 kDa
Chromosome 7
Chromosomal band p15
Imprinted Unknown
Genomic reference NG_032173.1
Transcript reference NM_017946.2
Exon/intron information NM_017946.2 exon/intron table
Associated with diseases EDS, Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Division of Human Genetics, Innsbruck and Martina Witsch-Baumgartner
Total number of public variants reported 18
Unique public DNA variants reported 7
Individuals with public variants 7
Hidden variants 0
Date created July 20, 2012
Date last updated November 11, 2018
Version FKBP14:181111

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_017946.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL Infromed Constent before genetic testing
HGNC 18625
Entrez Gene 55033
PubMed articles FKBP14
OMIM - Gene 614505
OMIM - Diseases EDS (syndrome, Ehlers-Danlos (EDS))
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
HGMD FKBP14
GeneCards FKBP14
GeneTests FKBP14


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000260 7 FK506 binding protein 14, 22 kDa NM_017946.2 NP_060416.1 18


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.