GENE REFERENCE / HGNC:11634

TCF4

transcription factor 4

protein-coding gene18q21.2Gene information

What does this gene do?

The TCF4 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of many other genes. On the basis of this action, the TCF4 protein is known as a transcription factor. The TCF4 protein is part of a group of proteins known as E-proteins. E-proteins each bind with another identical or similar protein and then bind to a specific sequence of DNA known as an E-box. E-proteins are involved in many aspects of development.

The TCF4 protein is found in the brain, muscles, lungs, and heart. This protein also appears to be active (expressed) in various tissues before birth. The TCF4 protein plays a role in the maturation of cells to carry out specific functions (cell differentiation) and the self-destruction of cells (apoptosis).

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-05-02. Source review: 2011-05.

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
Pitt-Hopkins syndromeMONDO:0012589 · Evaluated 2018-05-02	Autosomal dominant	DefinitiveRett and Angelman-like Disorders 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: 1,435
Submissions for variants in or overlapping this gene: 2,153
Submissions explicitly reporting this gene: 2,005
Alleles reported pathogenic / likely pathogenic: 340
VariationIDs with uncertain significance: 462
VariationIDs with conflicting classifications: 25

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 TCF4?

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 340 alleles in TCF4 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 TCF4.

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

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