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FLASH GENE

Symbol

ZNF469

contributors: shn/npt - updated : 09-11-2018

HGNC name	zinc finger protein 469
HGNC id	23216

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BCS Brittle cornea syndrome
Location	16q24.2      Physical location : 88.493.878 - 88.507.165
Synonym symbol(s)	KIAA1858

DNA

TYPE	functioning gene
STRUCTURE	13.29 kb     2 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D16S3123 - D16S2621 - ZNF469 - D16S3023 - D16S3121 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001127464 2 - 13203 NP_001120936 - 3925 - -

EXPRESSION

Type	restricted

constitutive of

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 Cardiovascular heart         Endocrine thyroid         Lymphoid/Immune lymph node         Nervous brain         Respiratory lung

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

five zinc finger domains

HOMOLOGY

interspecies	ortholog to ZNF469, Pan troglodytes
	ortholog to Znf469_predicted, Rattus norvegicus

Homologene

FAMILY

Krueppel C2H2-type zinc finger protein family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	may be involved in transcriptional regulation
	could act as a transcription factor involved in the synthesis and/or organization of collagen fibers (Abu et al, 2008)
	ZNF469 is a nuclear transcription factor that regulates the synthesis and structure of collagen fibers in the cornea

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)

BCS

Susceptibility

to central corneal thickness variation and to glaucoma

Variant & Polymorphism other	common variants contribute to central corneal thickness variation and to glaucoma in the general population (Lu 2010)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS