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FLASH GENE

Symbol

CECR2

contributors: mct - updated : 08-03-2017

HGNC name	cat eye syndrome chromosome region, candidate 2
HGNC id	1840

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain hindbrain cerebellum       brain limbic system hippocampus   highly Respiratory respiratory tract larynx       Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

two bromodomain, AT-HOOK motif next the bromodomain

HOMOLOGY

interspecies

homolog to murine Cecr2

Homologene

FAMILY

bromodomain family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	may be involved through its interaction with LRPPRC in the integration of cytoskeletal network with
	vesicular trafficking, nucleocytosolic shuttling, transcription, chromosome remodeling and cytokinesis
	involved in the neurulation and chromatin remodeling
	role of CECR2 in neurulation and inner ear development
	novel role of CECR2-containing complexes in spermatogenesis and CECR2 interacts predominantly with SMARCA5 instead of SMARCA1 in the testis

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

complexing with SNF2L to form a chromatin remodeling complex (complex CERF or CECR2- containing remodeling factor)

INTERACTION

DNA

RNA

small molecule

protein	is a binding partner of SMARCA1 and is involved in neural tube closure and inner ear development
	CECR2 contributes to spermatogenesis and forms a complex that includes the other ISWI ATPase SMARCA5 in the testis

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CES

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   amplification     of the genes CECR2, SLC25A18 and ATP6V1E1, mapping within the critical region for CES, may be responsible for anorectal, renal and preauricular anomalies in patients with Cat eye syndrome (CES)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

loss of Cecr2, which encodes a chromatin remodeling protein, has been associated with the neural tube defect (NTD) exencephaly and open eyelids in mice