ZNF469 (zinc finger protein 469)

2019-04-01  

Identity

HGNC
LOCATION
16q24.2
LOCUSID
ALIAS
BCS,BCS1,Zfp469
FUSION GENES

Other Information

Locus ID:

NCBI: 84627
MIM: 612078
HGNC: 23216
Ensembl: ENSG00000225614

Variants:

dbSNP: 84627
ClinVar: 84627
TCGA: ENSG00000225614
COSMIC: ZNF469

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000225614ENST00000437464Q96JG9
ENSG00000225614ENST00000565624H3BS19

Expression (GTEx)

0
1
2
3
4
5
6
7
8

References

Pubmed IDYearTitleCitations
207198622010New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.60
204855162010Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.57
216649992011Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.34
184528882008Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.30
228148182012Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness.21
248954052014Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.19
250972472014Mutations in the zinc finger protein gene, ZNF469, contribute to the pathogenesis of keratoconus.18
236803542013ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.14
196612342010Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene.12
297551272018A novel long non-coding RNA linc-ZNF469-3 promotes lung metastasis through miR-574-5p-ZEB1 axis in triple negative breast cancer.12

Citation

Dessen P

ZNF469 (zinc finger protein 469)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57950/znf469