GENE REFERENCE / HGNC:12305

TRIP11

thyroid hormone receptor interactor 11

protein-coding gene14q32.12Gene information

What does this gene do?

The TRIP11 gene provides instructions for making a protein known as thyroid receptor-interacting protein 11 (TRIP-11). This protein is found in the Golgi apparatus, a cell structure in which newly produced proteins are modified so they can carry out their functions. Studies suggest that TRIP-11 helps to maintain the structure of the Golgi apparatus, and it may also be involved in the transport of certain proteins out of cells.

Although TRIP-11 is found throughout the body, researchers suspect that it may have a particularly important role in cells called chondrocytes in the developing skeleton. Chondrocytes give rise to cartilage, a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears.

Source: MedlinePlus, National Library of Medicine. Source publication: 2024-08-19. Source review: 2015-03.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
TRIP11-related skeletal dysplasiaMONDO:1040009 · Evaluated 2024-09-30	Autosomal recessive	DefinitivePrenatal Gene Curation Expert Panel

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: 1,109
Submissions for variants in or overlapping this gene: 1,785
Submissions explicitly reporting this gene: 1,741
Alleles reported pathogenic / likely pathogenic: 99
VariationIDs with uncertain significance: 488
VariationIDs with conflicting classifications: 58

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 TRIP11?

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 99 alleles in TRIP11 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 TRIP11.

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

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