GENE REFERENCE / HGNC:21157

GTF2H5

general transcription factor IIH subunit 5

protein-coding gene6q25.3Gene information

What does this gene do?

The GTF2H5 gene provides instructions for making a protein called p8 or TTDA. This protein is one part (subunit) of a group of related proteins known as the general transcription factor 2 H (TFIIH) complex. The TFIIH complex has two major functions: it is involved in the process of gene transcription, which is the first step in protein production, and it helps repair damaged DNA.

DNA can be damaged by ultraviolet (UV) rays from the sun and by toxic chemicals, such as those found in cigarette smoke. DNA damage occurs frequently, but normal cells are usually able to fix it before it can cause problems.

One of the major mechanisms that cells use to fix DNA is known as nucleotide excision repair (NER). As part of this repair mechanism, the TFIIH complex opens up the section of double-stranded DNA that surrounds the damage. The TTDA protein helps with this process by stabilizing the TFIIH complex and maintaining its structure. Once the damaged region has been exposed, other proteins snip out (excise) the abnormal section and replace the damaged area with the correct DNA.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-04-06. Source review: 2023-04.

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: 115
Submissions for variants in or overlapping this gene: 132
Submissions explicitly reporting this gene: 94
Alleles reported pathogenic / likely pathogenic: 12
VariationIDs with uncertain significance: 38
VariationIDs with conflicting classifications: 0

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 GTF2H5?

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 12 alleles in GTF2H5 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 GTF2H5.

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

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