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FLASH GENE

Symbol

CUX2

contributors: mct/npt - updated : 18-12-2018

HGNC name	cut-like homeobox 2
HGNC id	19347

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EIEE67 epileptic encephalopathy, early infantile, 67
Location	12q24.11      Physical location : 111.471.827 - 111.788.356
Synonym name	homeobox protein Cux-2
	cut-like 2 (Drosophila)
	cut like 2
Synonym symbol(s)	KIAA0293, CUTL2, CDP2

DNA

TYPE	functioning gene
STRUCTURE	316.53 kb     22 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015267 22 - 6855 NP_056082 - 1486 - 2001 11353453

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 Digestive mouth tongue       Hearing/Equilibrium ear inner cochlea   highly Nervous brain forebrain cerebral cortex     Homo sapiens Reproductive male system prostate     highly Visual eye

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one homeobox domain
	three CUT domains, Cut repeat DNA-binding sequences
	one myosin tail

HOMOLOGY

interspecies	ortholog to murine Cutl2
	ortholog to rattus Cutl2_predicted
	homolog to zebrafish BI867269.1

Homologene

FAMILY

CUT homeobox family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
	intracellular,nucleus

basic FUNCTION	may be a transcription factor involved in neural specification
	able, like CUX1, to perform the CCAAT-displacement activity
	with CUX1, have redundant roles in specifying Reelin expressing cortical interneurons )
	regulates cell-cycle progression and development of neural progenitors (Iulianella 2008)
	functions at multiple levels during spinal cord neurogenesis (Iulianella 2008)
	acting as a transcription factor that integrates cell-cycle progression with neural progenitor development during spinal cord neurogenesis (Iulianella 2008)
	plays an important role in regulating the formation of dorsal spinal cord interneurons (Iulianella 2009)
	functions downstream of NOTCH signaling to regulate dorsal interneuron formation in the spinal cord (Iulianella 2009)
	CUX2 is expressed and may participate in development of a specific subtype of myelinated NTRK1(+) nociceptors
	conserved mechanism in vertebrates in which levels of CUX2 activity play an important role for ongoing neurogenesis in the olfactory epithelium
	CUX2 expression reflects hippocampal neurogenesis and identifies non-self-renewing neural progenitors (NPs) in the subgranular zone (SGZ)
	CUX2 plays an important role in the specification of neuronal cells and continues to be expressed in postmitotic neurons
	persistent expression of CUX2 in postmitotic neurons contributes likely to the maintenance of genome integrity through its stimulation of oxidative DNA damage repair

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding to DNA in a sequence-specific manner

RNA

small molecule

protein	binds both the NEUROD1 and CDKN1B promoters (Iulianella 2008)
	interacting with NOTCH (might mediate some of the effects of NOTCH signaling on interneuron formation) (Iulianella 2009)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE67

Susceptibility

to Atrial Fibrillation (AF)

Variant & Polymorphism

Candidate gene
Marker	significant genotypic association was found between CUX2 SNP rs6490029 and AF
Therapy target

ANIMAL & CELL MODELS

	Cux2 loss-of-function mouse mutants exhibit smaller spinal cords with deficits in neural progenitor development as well as in neuroblast and interneuron differentiation (Iulianella 2008)
	downregulation of Cux2 in male liver at puberty contributes to the developmental changes establishing adult patterns of sex-specific gene expression