CREB binding protein (Rubinstein-Taybi syndrome)

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NCBI Description of CREBBP

This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms.

Community Annotation of CREBBP Add / Edit CREBBP: Annotations

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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


CREBBP is highly significantly mutated in
Diffuse large B-cell lymphoma
14 patients (24%)
combined cohort
158 patients (3%)
CREBBP is significantly mutated in
12 patients (12%)
CREBBP is near significance in
7 patients (2%)

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for CREBBP