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Gene: FKBP14 (FKBP prolyl isomerase 14) Homo sapiens
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Symbol: FKBP14
Name: FKBP prolyl isomerase 14
Description: 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 this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 22 kDa FK506-binding protein; 22 kDa FKBP; EDSKMH; EDSKSCL2; FK506 binding protein 14; FK506 binding protein 14, 22 kDa; FK506-binding protein 14; FKBP-14; FKBP-22; FKBP22; FLJ20731; IPBP12; peptidyl-prolyl cis-trans isomerase FKBP14; PPIase FKBP14; rotamase
Orthologs:
Mus musculus (house mouse) : Fkbp14 (FK506 binding protein 14)  MGI  Alliance
Rattus norvegicus (Norway rat) : Fkbp14 (FKBP prolyl isomerase 14)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Fkbp14 (FKBP prolyl isomerase 14)
Pan paniscus (bonobo/pygmy chimpanzee) : FKBP14 (FKBP prolyl isomerase 14)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Fkbp14 (FKBP prolyl isomerase 14)
Sus scrofa (pig) : FKBP14 (FKBP prolyl isomerase 14)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38730,010,587 - 30,026,702 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37730,050,199 - 30,066,417 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36730,019,409 - 30,032,793 (-)NCBINCBI36hg18NCBI36
Build 34729,826,123 - 29,839,508NCBI
Celera730,042,275 - 30,055,659 (-)NCBI
Cytogenetic Map7p14.3NCBI
HuRef729,932,008 - 29,948,256 (-)NCBIHuRef
CHM1_1730,050,309 - 30,066,527 (-)NCBICHM1_1
CRA_TCAGchr7v2730,100,028 - 30,116,246 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on FKBP14
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1323300
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-09-12
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.