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
GeneCards FKBP14
GeneTests FKBP14

Active transcripts




NCBI ID     

NCBI Protein ID     

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

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