GENE REFERENCE / HGNC:18625

FKBP14

FKBP prolyl isomerase 14

protein-coding gene7p14.3Gene information

What does this gene do?

The FKBP14 gene provides instructions for making a protein called FKBP prolyl isomerase 14 (also known as FKBP22). This protein is found in a cell structure called the endoplasmic reticulum (ER), which is involved in protein processing and transport. Among its many functions, the endoplasmic reticulum folds and modifies newly formed proteins so they have the 3-dimensional shape they need to function properly. FKBP prolyl isomerase 14 is thought to assist with protein folding, particularly the folding of procollagens. Procollagens are the precursors of collagens, which are complex molecules found in the spaces between cells (the extracellular matrix) that add strength, support, and stretchiness (elasticity) to organs and tissues throughout the body. Studies suggest that FKBP prolyl isomerase 14 may also play a role in processing other components of the extracellular matrix.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2017-11.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 319
Submissions for variants in or overlapping this gene: 544
Submissions explicitly reporting this gene: 516
Alleles reported pathogenic / likely pathogenic: 21
VariationIDs with uncertain significance: 145
VariationIDs with conflicting classifications: 7

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about FKBP14?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 21 alleles in FKBP14 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in FKBP14.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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