FKBP14 FKBP prolyl isomerase 14
Gene ID: 55033, updated on 19-Sep-2024Gene type: protein coding
Also known as: EDSKMH; FKBP22; IPBP12; EDSKSCL2
- See all available tests in GTR for this gene
- Go to complete Gene record for FKBP14
- Go to Variation Viewer for FKBP14 variants
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 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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | See labs |
| Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women. GeneReviews: Not available |
Genomic context
- Location:
- 7p14.3
- Sequence:
- Chromosome: 7; NC_000007.14 (30005923..30026702, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FKBP14 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FKBP14 homepage - FKBP14 @ LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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