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Aliases for CREBBP Gene

Aliases for CREBBP Gene

  • CREB Binding Protein 2 3 5
  • EC 4 58
  • CBP 3 4
  • Rubinstein-Taybi Syndrome 2
  • CREB-Binding Protein 3
  • KAT3A 3
  • RSTS1 3
  • RSTS 3

External Ids for CREBBP Gene

Previous HGNC Symbols for CREBBP Gene

  • RSTS

Previous GeneCards Identifiers for CREBBP Gene

  • GC16M003805
  • GC16M003776
  • GC16M003716
  • GC16M003775

Summaries for CREBBP Gene

Entrez Gene Summary for CREBBP Gene

  • 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]

CIViC summary for CREBBP Gene

GeneCards Summary for CREBBP Gene

CREBBP (CREB Binding Protein) is a Protein Coding gene. Diseases associated with CREBBP include Rubinstein-Taybi Syndrome 1 and Chromosome 16P13.3 Deletion Syndrome, Proximal. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and p70S6K Signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is EP300.

UniProtKB/Swiss-Prot for CREBBP Gene

  • Acetylates histones, giving a specific tag for transcriptional activation. Also acetylates non-histone proteins, like NCOA3 and FOXO1. Binds specifically to phosphorylated CREB and enhances its transcriptional activity toward cAMP-responsive genes. Acts as a coactivator of ALX1. Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-ARNTL/BMAL1 and CLOCK-ARNTL/BMAL1 heterodimers. Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902).

Tocris Summary for CREBBP Gene

  • Bromodomains (BRDs) are epigenetic reader domains that selectively recognize acetylated lysine residues on the tails of histone proteins, and are the only known protein modules that can target acetylated lysine residues.

Gene Wiki entry for CREBBP Gene

Additional gene information for CREBBP Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CREBBP Gene

Genomics for CREBBP Gene

Regulatory Elements for CREBBP Gene

Enhancers for CREBBP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H003148 1.7 Ensembl ENCODE dbSUPER 68.8 +729.5 729541 4.9 MLX ZFP64 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A MEF2D SSRP1 CREBBP E4F1 ZNF263 THOC6 ZNF597 ZNF213-AS1 SRRM2 ZNF205 AMDHD2 ENSG00000261938
GH16H002903 1.9 FANTOM5 Ensembl ENCODE dbSUPER 53.7 +975.1 975119 4 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF548 CREBBP ZNF597 ZNF263 ZNF174 ENSG00000261938 TBL3 ZNF75A TSC2 FLYWCH2 E4F1
GH16H004252 1.4 ENCODE dbSUPER 62.4 -372.9 -372923 1.7 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 CBX5 CREBBP ZNF500 ZNF263 ENSG00000261938 ZNF597 UBN1 ZNF75A LINC01569 ANKS3 CDIP1
GH16H004270 1.8 FANTOM5 ENCODE dbSUPER 44.4 -392.0 -391989 4.5 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF500 ZNF75A CREBBP ANKS3 ENSG00000261938 ZNF597 ZNF174 TIGD7 ENSG00000261789 LOC105371067
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CREBBP on UCSC Golden Path with GeneCards custom track

Promoters for CREBBP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000082707 726 3201 HDGF ATF1 ARID4B SIN3A ZNF2 YY1 ELK1 ZNF143 ZNF207 SP5

Genomic Locations for CREBBP Gene

Genomic Locations for CREBBP Gene
155,673 bases
Minus strand

Genomic View for CREBBP Gene

Genes around CREBBP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CREBBP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CREBBP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CREBBP Gene

Proteins for CREBBP Gene

  • Protein details for CREBBP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    CREB-binding protein
    Protein Accession:
    Secondary Accessions:
    • D3DUC9
    • O00147
    • Q16376
    • Q4LE28

    Protein attributes for CREBBP Gene

    2442 amino acids
    Molecular mass:
    265351 Da
    Quaternary structure:
    • Found in a complex containing NCOA2; NCOA3; IKKA; IKKB and IKBKG. Probably part of a complex with HIF1A and EP300. Interacts with GATA1; the interaction results in acetylation and enhancement of transcriptional activity of GATA1. Interacts with MAF AND ZCCHC12. Interacts with DAXX; the interaction is dependent on CBP sumoylation and results in suppression of the transcriptional activity via recruitment of HDAC2 to DAXX (By similarity). Interacts with phosphorylated CREB1. Interacts with CITED4 (C-terminal region). Interacts (via the TAZ-type 1 domain) with HIF1A. Interacts with SRCAP, CARM1, ELF3, MLLT7/FOXO4, N4BP2, NCOA1, NCOA3, NCOA6, PCAF, DDX5, DDX17, PELP1, PML, SMAD1, SMAD2, SMAD3, SPIB and TRERF1. Interacts with HTLV-1 Tax and p30II. Interacts with HIV-1 Tat. Interacts with KLF1; the interaction results in acetylation of KLF1 and enhancement of its transcriptional activity. Interacts with MTDH. Interacts with NFATC4. Interacts with MAFG; the interaction acetylates MAFG in the basic region and stimulates NFE2 transcriptional activity through increasing its DNA-binding activity. Interacts with IRF2; the interaction acetylates IRF2 and regulates its activity on the H4 promoter. Interacts (via N-terminus) with SS18L1/CREST (via C-terminus). Interacts with MECOM. Interacts with CITED1 (via C-terminus). Interacts with FOXO1; the interaction acetylates FOXO1 and inhibits its transcriptional activity. Interacts with human herpes virus 8/HHV-8 protein vIRF-1; this interaction inhibits CREBBP binding to IRF3. Interacts with NPAS2, CLOCK and ARNTL/BMAL1. Interacts with ASF1A and ASF1B; this promotes histone acetylation. Interacts with acetylated TP53/p53 and with the acetylated histones H3 and H4. Interacts (via transactivation domain and C-terminus) with PCNA; the interaction occurs on chromatin in UV-irradiated damaged cells (PubMed:24939902).
    • Sequence=BAE06125.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CREBBP Gene

    Alternative splice isoforms for CREBBP Gene


neXtProt entry for CREBBP Gene

Selected DME Specific Peptides for CREBBP Gene


Post-translational modifications for CREBBP Gene

  • Autoacetylation is required for binding to protein substrates, such as acetylated histones and acetylated TP53/p53.
  • Methylation of the KIX domain by CARM1 blocks association with CREB. This results in the blockade of CREB signaling, and in activation of apoptotic response (By similarity).
  • Phosphorylated by CHUK/IKKA at Ser-1382 and Ser-1386; these phosphorylations promote cell growth by switching the binding preference of CREBBP from TP53 to NF-kappa-B.
  • Sumoylation negatively regulates transcriptional activity via the recruitment of DAAX.
  • Ubiquitination at posLast=21022102
  • Modification sites at PhosphoSitePlus

Domains & Families for CREBBP Gene

Gene Families for CREBBP Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CREBBP Gene

Graphical View of Domain Structure for InterPro Entry



  • The KIX domain mediates binding to HIV-1 Tat.
  • The KIX domain mediates binding to HIV-1 Tat.
genes like me logo Genes that share domains with CREBBP: view

Function for CREBBP Gene

Molecular function for CREBBP Gene

GENATLAS Biochemistry:
cyclic-AMP response element binding protein,colocalizing with PML in special (PML/SP100) nuclear bodies (NB/POD),transcriptional coactivator with EB300 of various nuclear receptors and hypoxia inducible factor 1A (HIF1A),required for Smad (MADH4) dependent TGFB transcriptional responses in endothelial cells,involved in a variety of transcriptional pathways through chromatin remodeling,potent histone acetyltransferase,participating in basic cellular functions,associating to PML which increases its localization in POD (promyelocytic oncoprotein domain) and acting as a potent nuclear receptor coactivator,playing a pivotal role in embryonic development,fused with ZNF220 (MOZ) in acute myeloid leukemia with translocation t(8;16)(p11;p13),see AML3,and with MLL (HRX) in therapy related acute leukemia with translocation t(11;16)(q23;p13)
UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + [protein]-L-lysine = CoA + [protein]-N(6)-acetyl-L-lysine.
UniProtKB/Swiss-Prot Function:
Acetylates histones, giving a specific tag for transcriptional activation. Also acetylates non-histone proteins, like NCOA3 and FOXO1. Binds specifically to phosphorylated CREB and enhances its transcriptional activity toward cAMP-responsive genes. Acts as a coactivator of ALX1. Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-ARNTL/BMAL1 and CLOCK-ARNTL/BMAL1 heterodimers. Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902).

Enzyme Numbers (IUBMB) for CREBBP Gene

Phenotypes From GWAS Catalog for CREBBP Gene

Gene Ontology (GO) - Molecular Function for CREBBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000987 core promoter proximal region sequence-specific DNA binding IDA 21539536
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 21539536
GO:0001085 RNA polymerase II transcription factor binding IPI 21539536
GO:0001102 RNA polymerase II activating transcription factor binding TAS 11001584
GO:0001105 RNA polymerase II transcription coactivator activity TAS 11001584
genes like me logo Genes that share ontologies with CREBBP: view
genes like me logo Genes that share phenotypes with CREBBP: view

Human Phenotype Ontology for CREBBP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CREBBP Gene

MGI Knock Outs for CREBBP:

Animal Model Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for CREBBP Gene

Localization for CREBBP Gene

Subcellular locations from UniProtKB/Swiss-Prot for CREBBP Gene

Cytoplasm. Nucleus. Note=Recruited to nuclear bodies by SS18L1/CREST. In the presence of ALX1 relocalizes from the cytoplasm to the nucleus.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CREBBP gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CREBBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000123 histone acetyltransferase complex IEA --
GO:0000790 nuclear chromatin IDA 21539536
GO:0005634 nucleus IDA,TAS 12929931
GO:0005654 nucleoplasm TAS,IDA --
GO:0005737 cytoplasm IDA,TAS 12929931
genes like me logo Genes that share ontologies with CREBBP: view

Pathways & Interactions for CREBBP Gene

genes like me logo Genes that share pathways with CREBBP: view

Pathways by source for CREBBP Gene

SIGNOR curated interactions for CREBBP Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CREBBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 21539536
GO:0001666 response to hypoxia TAS 15261140
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA,TAS 15261140
genes like me logo Genes that share ontologies with CREBBP: view

Drugs & Compounds for CREBBP Gene

(62) Drugs for CREBBP Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
9-ACETYL-2,3,4,9-TETRAHYDRO-1H-CARBAZOL-1-ONE Experimental Pharma Target 0
Mocetinostat Investigational Pharma 21
Histone Deacetylase Inhibitors Pharma 583
Garcinol Pharma 0

(23) Additional Compounds for CREBBP Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A

(4) ApexBio Compounds for CREBBP Gene

Compound Action Cas Number
Garcinol 78824-30-3
I-CBP 112 CBP/EP300 bromodomain inhibitor
L002 321695-57-2
SGC-CBP30 Inhibitor of CREBBP/EP300 bromodomain,potent 1613695-14-9
genes like me logo Genes that share compounds with CREBBP: view

Drug Products

Transcripts for CREBBP Gene

Unigene Clusters for CREBBP Gene

CREB binding protein:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CREBBP Gene

No ASD Table

Relevant External Links for CREBBP Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CREBBP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CREBBP Gene

Protein differential expression in normal tissues from HIPED for CREBBP Gene

This gene is overexpressed in Adrenal (17.1), Monocytes (8.2), and Peripheral blood mononuclear cells (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CREBBP Gene

Protein tissue co-expression partners for CREBBP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CREBBP Gene:


SOURCE GeneReport for Unigene cluster for CREBBP Gene:


Evidence on tissue expression from TISSUES for CREBBP Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Muscle(3)
  • Kidney(2.7)
  • Intestine(2.6)
  • Blood(2.4)
  • Heart(2.4)
  • Lung(2.4)
  • Thyroid gland(2.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CREBBP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lacrimal apparatus
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • scalp
  • skull
  • tooth
  • vocal cord
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
  • intestine
  • kidney
  • large intestine
  • spleen
  • ovary
  • pelvis
  • penis
  • placenta
  • rectum
  • testicle
  • urethra
  • uterus
  • vagina
  • vulva
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CREBBP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CREBBP Gene

Orthologs for CREBBP Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CREBBP Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CREBBP 33 34
  • 99.78 (n)
(Canis familiaris)
Mammalia CREBBP 33 34
  • 91.25 (n)
(Bos Taurus)
Mammalia CREBBP 33 34
  • 90.23 (n)
(Monodelphis domestica)
Mammalia CREBBP 34
  • 90 (a)
(Rattus norvegicus)
Mammalia Crebbp 33
  • 89.93 (n)
(Mus musculus)
Mammalia Crebbp 33 16 34
  • 89.65 (n)
(Ornithorhynchus anatinus)
Mammalia CREBBP 34
  • 84 (a)
(Gallus gallus)
Aves CREBBP 33 34
  • 81.69 (n)
(Anolis carolinensis)
Reptilia CREBBP 34
  • 74 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia crebbp 33
  • 71.82 (n)
Str.16673 33
African clawed frog
(Xenopus laevis)
Amphibia crebbp-A 33
(Danio rerio)
Actinopterygii LOC101884291 33
  • 72.42 (n)
CREBBP (1 of 3) 34
  • 68 (a)
crebbpa 34
  • 66 (a)
crebbpb 34
  • 66 (a)
Dr.10005 33
fruit fly
(Drosophila melanogaster)
Insecta nej 35
  • 67 (a)
CG30417 34
  • 35 (a)
CG13597 34
  • 23 (a)
CG7229 34
  • 20 (a)
(Caenorhabditis elegans)
Secernentea F40F12.7 35
  • 63 (a)
C29F9.5 34
  • 35 (a)
C49F5.5 34
  • 34 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BDF2 34
  • 24 (a)
BDF1 34
  • 22 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8744 33
Species where no ortholog for CREBBP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CREBBP Gene

Gene Tree for CREBBP (if available)
Gene Tree for CREBBP (if available)

Paralogs for CREBBP Gene

Paralogs for CREBBP Gene

genes like me logo Genes that share paralogs with CREBBP: view

Variants for CREBBP Gene

Sequence variations from dbSNP and Humsavar for CREBBP Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs121434626 Pathogenic, Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] 3,740,399(-) GTCAC(C/G)GTCAG reference, missense
rs143247685 Pathogenic, Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] 3,770,722(+) TTGGG(A/C/T)AGCAC intron-variant, reference, missense
rs267606752 Pathogenic, Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] 3,749,631(-) ACCCC(A/G)AACCG reference, missense
rs28937315 Pathogenic, Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] 3,757,894(-) AGTCT(A/G)TAAGT reference, missense
rs746728741 Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] 3,773,849(+) CTGAG(C/T)GGGCG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CREBBP Gene

Variant ID Type Subtype PubMed ID
nsv974750 CNV duplication 23825009
nsv958207 CNV deletion 24416366
nsv833130 CNV gain 17160897
nsv827526 CNV gain 20364138
nsv571262 CNV gain 21841781
nsv571261 CNV loss 21841781
nsv1140310 OTHER inversion 24896259
nsv1134492 CNV deletion 24896259
nsv1121905 CNV deletion 24896259
nsv1070739 CNV deletion 25765185
nsv1051657 CNV gain 25217958
esv9178 CNV loss 19470904
esv3637676 CNV loss 21293372
esv3637675 CNV loss 21293372
esv3581943 CNV loss 25503493
esv3553027 CNV deletion 23714750
esv2750419 CNV deletion 23290073
esv2656605 CNV deletion 23128226
esv21490 CNV gain+loss 19812545
dgv4878n54 CNV gain 21841781
dgv4877n54 CNV gain 21841781
dgv1288n106 CNV deletion 24896259

Variation tolerance for CREBBP Gene

Residual Variation Intolerance Score: 0.217% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.97; 59.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CREBBP Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CREBBP Gene

Disorders for CREBBP Gene

MalaCards: The human disease database

(23) MalaCards diseases for CREBBP Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
rubinstein-taybi syndrome 1
  • rubinstein-taybi syndrome
chromosome 16p13.3 deletion syndrome, proximal
  • rubinstein-taybi syndrome
acute myeloid leukemia with t(8;16)(p11;p13) translocation
  • aml with t(8;16)(p11;p13) translocation
crebbp-related rubinstein-taybi syndrome
  • crebbp-related broad thumbs-hallux syndrome
neonatal leukemia
- elite association - COSMIC cancer census association via MalaCards


  • Note=Chromosomal aberrations involving CREBBP may be a cause of acute myeloid leukemias. Translocation t(8;16)(p11;p13) with KAT6A; translocation t(11;16)(q23;p13.3) with KMT2A/MLL1; translocation t(10;16)(q22;p13) with KAT6B. KAT6A-CREBBP may induce leukemia by inhibiting RUNX1-mediated transcription.
  • Note=De novo missense mutations in the last part of exon 30 or beginning of exon 31 are associated with growth retardation, craniofacial dysmorphism and additional Rubinstein-Taybi-like features. No patients have broad thumbs. Patients have intellectual disability of variable severity, a marked speech delay, short stature and microcephaly. Main facial characteristics include short palpebral fissures, telecanthi, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum. {ECO:0000269 PubMed:27311832}.
  • Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]: A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, mental retardation and a propensity for development of malignancies. {ECO:0000269 PubMed:11331617, ECO:0000269 PubMed:12114483, ECO:0000269 PubMed:12566391, ECO:0000269 PubMed:15706485, ECO:0000269 PubMed:20684013, ECO:0000269 PubMed:24616510, ECO:0000269 PubMed:25388907}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CREBBP

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CREBBP: view

No data available for Genatlas for CREBBP Gene

Publications for CREBBP Gene

  1. Screening and association testing of common coding variation in steroid hormone receptor co-activator and co-repressor genes in relation to breast cancer risk: the Multiethnic Cohort. (PMID: 19183483) Haiman CA … Press MF (BMC cancer 2009) 3 22 45 60
  2. Phosphorylation of CBP by IKKalpha promotes cell growth by switching the binding preference of CBP from p53 to NF-kappaB. (PMID: 17434128) Huang WC … Chen CC (Molecular cell 2007) 3 4 22 60
  3. Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. (PMID: 12566391) Kalkhoven E … Peters DJ (Human molecular genetics 2003) 3 4 22 60
  4. Interaction between the hematopoietic Ets transcription factor Spi-B and the coactivator CREB-binding protein associated with negative cross-talk with c-Myb. (PMID: 11864910) Yamamoto H … Oikawa T (Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research 2002) 3 4 22 60
  5. Structural basis for Hif-1 alpha /CBP recognition in the cellular hypoxic response. (PMID: 11959977) Dames SA … Wright PE (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 4 22 60

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