GENE REFERENCE / HGNC:2515

CTNND1

catenin delta 1

protein-coding gene11q12.1Gene information

What does this gene do?

The CTNND1 gene provides instructions for making a protein called p120-catenin, also known as delta 1 catenin. This protein and others in the catenin family interact with proteins from another family called cadherins. Catenins and cadherins form protein complexes that help cells stick to neighboring cells (cell adhesion) to form organized tissues. In addition to their role in cell adhesion, catenin and cadherin interactions help transmit chemical signals within cells, control cell maturation and movement, and regulate the activity of certain genes.

The p120-catenin protein interacts with a protein called E-cadherin, which is produced from the CDH1 gene. The E-cadherin protein is found within the membrane that surrounds epithelial cells, which are the cells that line the surfaces and cavities of the body, including the inside of the eyelids and the mouth. The p120-catenin protein helps keep E-cadherin in its proper place in the cell membrane, preventing it from being taken into the cell through a process called endocytosis and broken down prematurely. Interactions between the two proteins are also important for other cell processes that are involved in the development of the head and face (craniofacial development), including the eyelids and teeth.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2017-07.

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
blepharocheilodontic syndrome 2MONDO:0040503 · Evaluated 2024-03-21	Autosomal dominant	DefinitiveCraniofacial Malformations 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: 307
Submissions for variants in or overlapping this gene: 367
Submissions explicitly reporting this gene: 336
Alleles reported pathogenic / likely pathogenic: 47
VariationIDs with uncertain significance: 200
VariationIDs with conflicting classifications: 4

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 CTNND1?

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 47 alleles in CTNND1 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 CTNND1.

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

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