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FLASH GENE

Symbol

CREBBP

contributors: mct/npt/pgu - updated : 21-02-2018

HGNC name	CREB binding protein
HGNC id	2348

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

RSTS , AMLT3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       with MYST3 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), with MYST4 in AML with t(10;16) (q22;p13) tumoral fusion       fusion genes MYST3-CREBBP in acute myeloid leukemia (AML) by chromosomal translocation tumoral somatic mutation     loss of function in B-cell non-Hodgkin lymphoma tumoral somatic mutation       in relapsed acute lymphoblastic leukaemia, mutations impaired histone acetylation and transcriptional regulation of CREBBP targets, including glucocorticoid responsive genes, and may confer resistance to therapy ( tumoral somatic mutation       in hypothalamic hamartoma with gelastic epilepsy

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer hemopathy   use of histone deacetylase inhibitors has a potential therapy in B-cell non-Hodgkin lymphoma cancer hemopathy   promising therapeutic targets across multiple subtypes in acute myeloid leukemia

ANIMAL & CELL MODELS

mice with a deletion mutation in the CBP CH1 (TAZ1) domain have an Rubinstein-Taybi Syndrome (RTS)-like phenotype that includes ASD-relevant repetitive behaviors, hyperactivity, social interaction deficits, motor dysfunction, impaired recognition memory, and abnormal synaptic plasticity