GENE REFERENCE / HGNC:18169

FKBP10

FKBP prolyl isomerase 10

protein-coding gene17q21.2Gene information

What does this gene do?

The FKBP10 gene provides instructions for making a protein that is found in a cell structure called the endoplasmic reticulum, which is involved in protein production, processing, and transport. The FKBP10 protein (formerly known as FKBP65) is important for the correct processing of complex molecules called collagen and elastin, which are part of the intricate lattice of proteins and other molecules that forms in the spaces between cells (the extracellular matrix). This matrix provides structure and strength to connective tissues that support the body's joints and organs.

In the extracellular matrix, collagen molecules are cross-linked to one another to form long, thin fibrils. The formation of cross-links results in very strong collagen fibrils. The FKBP10 protein attaches to collagen molecules and plays a role in their cross-linking. It is thought to be involved in a reaction called hydroxylation that modifies a particular region of the collagen molecule and is necessary for cross-linking of the molecules.

The FKBP10 protein is also involved in the formation of elastin. In particular, FKBP10 helps with the proper folding of a protein called tropoelastin. Multiple copies of tropoelastin attach to one another to make elastin. Elastin is the major component of elastic fibers, which provide strength and elasticity to connective tissues as part of the extracellular matrix.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-04-11. Source review: 2013-11.

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: 720
Submissions for variants in or overlapping this gene: 1,147
Submissions explicitly reporting this gene: 1,115
Alleles reported pathogenic / likely pathogenic: 90
VariationIDs with uncertain significance: 216
VariationIDs with conflicting classifications: 41

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 FKBP10?

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 90 alleles in FKBP10 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 FKBP10.

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

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