Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CECR2 contributors: mct - updated : 08-03-2017
HGNC name cat eye syndrome chromosome region, candidate 2
HGNC id 1840
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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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