GENE REFERENCE / HGNC:2348

CREBBP

CREB binding lysine acetyltransferase

protein-coding gene16p13.3Gene information

What does this gene do?

The CREBBP gene provides instructions for making CREB binding protein, which regulates the activity of many genes in tissues throughout the body. This protein plays an essential role in controlling cell growth and division and prompting cells to mature and assume specialized functions (differentiate). CREB binding protein appears to be critical for normal development before and after birth. Studies show that this protein is involved in development of the brain and may also be involved in the formation of long-term memories.

CREB binding protein carries out its functions by turning on (activating) transcription, which is the first step in the production of proteins from the instructions stored in DNA. The CREB binding protein ensures the DNA is ready for transcription by attaching a small molecule called an acetyl group to proteins called histones (a process called acetylation). Histones are structural proteins that bind DNA and give chromosomes their shape. Acetylation of the histone changes the shape of the chromosome, making genes available for transcription. On the basis of this function, CREB binding protein is called a histone acetyltransferase.

In addition, CREB binding protein connects other proteins that start the transcription process (known as transcription factors) with the group of proteins that carries out transcription. On the basis of this function, CREB binding protein is called a transcriptional coactivator.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-06-02. Source review: 2020-01.

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
Rubinstein-Taybi syndromeMONDO:0019188 · Evaluated 2018-04-27	Autosomal dominant	DefinitiveIntellectual Disability and Autism 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: 3,396
Submissions for variants in or overlapping this gene: 5,705
Submissions explicitly reporting this gene: 5,498
Alleles reported pathogenic / likely pathogenic: 604
VariationIDs with uncertain significance: 1,255
VariationIDs with conflicting classifications: 238

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 CREBBP?

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 604 alleles in CREBBP 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 CREBBP.

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

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