GENE REFERENCE / HGNC:14063

HDAC4

histone deacetylase 4

protein-coding gene2q37.3Gene information

What does this gene do?

The HDAC4 gene provides instructions for making an enzyme called histone deacetylase 4. This enzyme is part of a group of related enzymes, called histone deacetylases, that modify proteins called histones. Histones are structural proteins that attach (bind) to DNA and give chromosomes their shape.

By removing a molecule called an acetyl group from histones (a process called deacetylation), histone deacetylases cause the DNA within chromosomes to become tightly packed (compressed). As a result, proteins called transcription factors, which attach (bind) to specific regions of DNA and help control the activity of particular genes, cannot access the DNA. Through deacetylation of histones, histone deacetylase 4 is able to control (regulate) the activity of certain genes.

Histone deacetylase 4 appears to be particularly important for regulating the activity of genes involved in heart and skeletal development. This protein is also involved in nerve cell survival.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2018-10.

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: 911
Submissions for variants in or overlapping this gene: 1,328
Submissions explicitly reporting this gene: 1,164
Alleles reported pathogenic / likely pathogenic: 22
VariationIDs with uncertain significance: 322
VariationIDs with conflicting classifications: 31

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 HDAC4?

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 22 alleles in HDAC4 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 HDAC4.

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

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