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FLASH GENE

Symbol

ZIC4

contributors: mct/npt - updated : 13-09-2011

HGNC name	Zic family member 4
HGNC id	20393

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	20.00 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 5 - 4087 36.6 334 - Grinberg (2004)

EXPRESSION

Type	restricted

constitutive of

expressed in	(based on citations)
organ(s)

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

four C2H2-type zinc fingers

HOMOLOGY

interspecies	homolog to rattus LOC315882
	ortholog to murine Zic4

Homologene

FAMILY

GLI C2H2-type zinc-finger protein family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus
text	nuclear localization of ZIC4/ZIC5 not affected by the presence of MDFI

basic FUNCTION	may be playing a role in cerebellar development
	required for development of the dorsal roof plate
	ZIC1 and ZIC4 have both SHH-dependent and -independent roles during cerebellar development and that multiple developmental disruptions underlie ZIC1/4-related Dandy-Walker malformation

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule	metal binding,
	ion Zn2+

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DWS1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in X-linked visceral heterotaxy and holoprosencephaly type 5 constitutional   deletion     of ZIC1 and ZIC4 in patient presented with mental retardation, epilepsy, and multiple congenital malformations including spina bifida, mild dysmorphic facial features and Dandy-Walker malformation (

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS