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FLASH GENE

Symbol

ZBED4

contributors: shn/npt - updated : 06-05-2012

HGNC name	zinc finger, BED domain containing 4
HGNC id	20721

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	22q13.33      Physical location : 50.247.496 - 50.283.726
Synonym name	zinc finger BED domain-containing protein 4
	zinc finger, BED domain containing 4
Synonym symbol(s)	KIAA0637

DNA

TYPE	functioning gene
STRUCTURE	36.23 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

linked

status

provisional

Map	cen - D22S922 - D22S1169 - ZBED4 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014838 2 - 6897 NP_055653 135 1171 cone nuclei, inner segments and pedicles and Müller cell endfeet in the retina Ishikawa et al, 1998

EXPRESSION

Type

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 Visual eye retina     specific Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Visual cone photoreceptor Homo sapiens Visual Muller cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four predicted DNA-binding domains
	a dimerization domain
	four BED zinc finger domains
	hACT dimerization domain
	and two LXXLL motifs characteristic of coactivators/corepressors of nuclear hormone receptors

mono polymer

dimer

HOMOLOGY

interspecies	ortholog to ZBED4 , Mus musculus
	ortholog to zbed4, Danio rerio
	ortholog to Zbed4, Rattus norvegicus

Homologene

FAMILY

human hAT transposase family

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION

a possible involvement in retinal morphogenesis and Müller cell function (

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene	a candidate gene for patients affected with cone dystrophies
Marker
Therapy target

ANIMAL & CELL MODELS