protein, also known as CREBBP or CBP or KAT3A, (where CREB is cAMP response element-binding protein) is a coactivator encoded by the CREBBP gene in humans, located...

individuals. These characteristics are caused by a mutation or deletion in the CREBBP gene, located on chromosome 16, and/or the EP300 gene, located on chromosome...

condition has been associated with mutations in the CREB binding protein gene (CREBBP). This gene is located on the short arm of chromosome 16 (16p13.3). The...

or E1A binding protein p300) CBP (also known as CREB-binding protein or CREBBP) Both p300 and CBP interact with numerous transcription factors and act...

Robinow syndrome, autosomal recessive 2 Rubinstein-Taybi syndrome due to CREBBP mutations Sclerosteosis 1 Shprintzen-Goldberg syndrome Spondyloepimetaphyseal...

syndrome due to 16p13.3 microdeletion Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Schwartz-Jampel...

MAPK/ERK signaling pathways that control cell proliferation and survival. CREBBP: This gene's product is a transcriptional coactivator; it activates numerous...

BLM, BRCA1, BRCA2, BRCC3, BRE, CEBPZ, CDC14A, Cdk1, CFLAR, CHEK1, CCNG1, CREBBP, CREB1, Cyclin H, CDK7, DNA-PKcs, E4F1, EFEMP2, EIF2AK2, ELL, EP300, ERCC6...

females Roberts syndrome ESCO2 recessive Rubinstein–Taybi syndrome (RSTS) CREBBP dominant 1:125,000-300,000 Sandhoff disease HEXB recessive Sanfilippo syndrome...

Coactivator: CREBBP Rubinstein–Taybi syndrome Corepressor: HR (Atrichia with papular lesions)...

ATR ATM ATF1 BACH1 BARD1 BRCA2 BRCC3 BRE BRIP1 C-jun CHEK2 CLSPN COBRA1 CREBBP CSNK2B CSTF2 CDK2 DHX9 ELK4 EP300 ESR1 FANCA FANCD2 FHL2 H2AFX JUNB JunD...

Glucocorticoid receptor has been shown to interact with: BAG1, CEBPB, CREBBP, DAP3, DAXX, HSP90AA1, HNRPU, MED1, MED14, Mineralocorticoid receptor, NRIP1...

repressive state of various genes and is found in up to 27% of FL cases); 2) CREBBP (encodes CREB-binding protein which contributes to the activation of various...

proto-oncogene MLL (Mixed Lineage Leukemia, KMT2A). The paralogous coactivators CBP (CREBBP) and P300 (EP300) are recruited to DNA-bound transcription factors to activate...

Coactivator: CREBBP Rubinstein–Taybi syndrome Corepressor: HR (Atrichia with papular lesions)...

FBXO11. Finally, BCL6’s interaction with other mutated proteins, including CREBBP, EP300, EZH2, and KM2TD, can also lead to B-cell lymphomas. Given its role...

syndrome Pontocerebellar hypoplasia, IIA 17 Rubinstein-Taybi syndrome due to CREBBP mutations Saethre-Chotzen syndrome SCARF syndrome Skin creases, congenital...

tumor suppressor which codes for suppressor of cytokine signaling 1; and CREBBP, a gene that is commonly mutated in other DLBCL subtypes as well as other...

has been shown to interact with BRE, BARD1, BCCIP, BRCA1, BRCC3, BUB1B, CREBBP, C11orf30, FANCD2, FANCG, FLNA, HMG20B, P53, PALB2, PCAF, PLK1, RAD51, RPA1...

different chromosome. MLL (gene) has been shown to interact with: ASH2L, CREBBP, CTBP1, HDAC1, HCFC1, MEN1, PPIE, PPP1R15A, RBBP5, and WDR5. GRCh38: Ensembl...

Mutations in FGFR3, TP53, PIK3CA, KDM6A, ARID1A, KMT2D, HRAS, TERT, KRAS, CREBBP, RB1 and TSC1 genes may be associated with some cases of bladder cancer...

pigmentosa 268000 Robinow syndrome 268310 ROR2 Rubinstein–Taybi syndrome 180849 CREBBP Sakoda complex 610871 Schinzel–Giedion syndrome 269150 SETBP1 Split-hand/foot...

activation. NFE2L2 has been shown to interact with MAFF, MAFG, MAFK, C-jun, CREBBP, EIF2AK3, KEAP1, and UBC. Heme oxygenase Carbon monoxide-releasing molecules...

Q68CJ9 3555 CREB3L4 HGNC:18854 Q8TEY5 3556 CREB5 HGNC:16844 Q02930 3557 CREBBP HGNC:2348 Q92793 3558 CREBL2 HGNC:2350 O60519 3559 CREBRF HGNC:24050 Q8IUR6...

promoters. CREB-binding protein, also known as CREBBP or CBP, is a protein that is encoded by the CREBBP gene in humans. The CREB protein carries out its...

Aliases SRCAP, DOMO1, EAF1, FLHS, SWR1, Snf2-related CREBBP activator protein, Snf2 related CREBBP activator protein, DEHMBA External IDs OMIM: 611421;...

one or more of various other genes such as MLL2, SIN3A, ARID1A, EP300, CREBBP, and TBL1XR1) that have chromatin remodeling activity to thereby regulate...

interact with: AKAP13 AHR BRCA1 CAV1 CCNC CDC25B CEBPB COBRA1 COUP-TFI CREBBP CRSP3 Cyclin D1 DNTTIP2 EP300 ESR2 FOXO1 GREB1 GTF2H1 HSPA1A HSPA8 HSP90AA1...

chromatin remodeling (i.e. modifying chromatin architecture), KMT2A and CREBBP, have also been identified in the tumor cells of some EPS cases. Alterations...

the occurrence of gene deletions and tumor formation. Mutations in the CREBBP gene. This gene encodes CREB-binding protein, a protein that activates various...