CREBBP Chromosome 16
CREB binding lysine acetyltransferase
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What This Gene Does
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. [provided by RefSeq, Feb 2009]
Gene Info
Gene Group
"Zinc fingers ZZ-type|Lysine acetyltransferases|Bromodomain containing"
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000005339
Associated Conditions (38)
Rubinstein-Taybi syndrome
CREBBP-related disorder
Menke-Hennekam syndrome 1
Inborn genetic diseases
Rubinstein-Taybi syndrome due to CREBBP mutations
Intellectual disability
Hearing impairment
Neurodevelopmental abnormality
Familial cancer of breast
Uterine corpus endometrial carcinoma
See cases
Neoplasm
Medulloblastoma WNT activated
Tip-toe gait
6 conditions
Rare genetic intellectual disability
Abnormality of the nervous system
Cervical cancer
Kabuki-like syndrome
Scoliosis
+18 more conditions
Key Variants
RS1053049323
Conflicting classifications of pathogenicity
Rubinstein-Taybi syndrome, CREBBP-related disorder, Rubinstein-Taybi syndrome
Health Risk
RS1057521558
Conflicting classifications of pathogenicity
Health Risk
RS1057524802
Conflicting classifications of pathogenicity
Menke-Hennekam syndrome 1, Inborn genetic diseases, Menke-Hennekam syndrome 1
Health Risk
RS1064793090
Conflicting classifications of pathogenicity
Inborn genetic diseases, Rubinstein-Taybi syndrome, CREBBP-related disorder
Health Risk
RS1064794963
Conflicting classifications of pathogenicity
Inborn genetic diseases, Menke-Hennekam syndrome 1, Inborn genetic diseases
Health Risk
RS117910358
Conflicting classifications of pathogenicity
Rubinstein-Taybi syndrome, CREBBP-related disorder, Rubinstein-Taybi syndrome
Health Risk
RS1180158800
Conflicting classifications of pathogenicity
Rubinstein-Taybi syndrome, Inborn genetic diseases, Rubinstein-Taybi syndrome
Health Risk
RS1205756499
Conflicting classifications of pathogenicity
Inborn genetic diseases, Rubinstein-Taybi syndrome, Inborn genetic diseases
Health Risk
RS1211983012
Conflicting classifications of pathogenicity
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations
Health Risk
RS1213106224
Conflicting classifications of pathogenicity
Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
Health Risk
RS1260458096
Conflicting classifications of pathogenicity
Inborn genetic diseases, Rubinstein-Taybi syndrome, Inborn genetic diseases
Health Risk
RS1285192047
Conflicting classifications of pathogenicity
Rubinstein-Taybi syndrome, CREBBP-related disorder, Rubinstein-Taybi syndrome
Health Risk
All Variants (616)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555471931 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1 |
| RS1567263168 | Health Risk | Pathogenic/Likely pathogenic | Rubinstein-Taybi syndrome, Inborn genetic diseases, Rubinstein-Taybi syndrome |
| RS1596839714 | Health Risk | Pathogenic/Likely pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS2051858361 | Health Risk | Pathogenic/Likely pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS2051906390 | Health Risk | Pathogenic/Likely pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS2052611239 | Health Risk | Pathogenic/Likely pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS2151334254 | Health Risk | Pathogenic/Likely pathogenic | Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome |
| RS28937315 | Health Risk | Pathogenic/Likely pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations, Inborn genetic diseases, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783502 | Health Risk | Pathogenic/Likely pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations, CREBBP-related disorder, Rubinstein-Taybi syndrome |
| RS587783505 | Health Risk | Pathogenic/Likely pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783510 | Health Risk | Pathogenic/Likely pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS797045037 | Health Risk | Pathogenic/Likely pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1, Intellectual disability |
| RS879255381 | Health Risk | Pathogenic/Likely pathogenic | Menke-Hennekam syndrome 1, Rubinstein-Taybi syndrome, Menke-Hennekam syndrome 1 |
| RS886041286 | Health Risk | Pathogenic/Likely pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS886041518 | Health Risk | Pathogenic/Likely pathogenic | Rare genetic intellectual disability, Rubinstein-Taybi syndrome due to CREBBP mutations, Rare genetic intellectual disability |
| RS933672395 | Health Risk | Pathogenic/Likely pathogenic | Menke-Hennekam syndrome 1, Inborn genetic diseases, Menke-Hennekam syndrome 1 |