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ZNF469
Identifiers
Aliases	ZNF469, BCS, BCS1, zinc finger protein 469, Zfp469
External IDs	OMIM: 612078; MGI: 2684868; HomoloGene: 18937; GeneCards: ZNF469; OMA:ZNF469 - orthologs
Gene location (Human) Chr. Chromosome 16 (human) Band 16q24.2 Start 88,382,959 bp End 88,440,757 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8|8 E1 Start 122,985,359 bp End 122,999,389 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibia cartilage tissue pancreatic epithelial cell vein right ventricle saphenous vein cardia subthalamic nucleus Pons ventral tegmental area Top expressed in basilar part of occipital bone facial skeleton rib membranous bone mandible decidua molar bones of free part of lower limb sphenoid bone calvaria More reference expression data BioGPS n/a
Gene ontology Molecular function metal ion binding DNA binding nucleic acid binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process transcription, DNA-templated regulation of transcription, DNA-templated regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 84627 195209 Ensembl ENSG00000225614 ENSMUSG00000043903 UniProt Q96JG9 n/a RefSeq (mRNA) NM_001127464 NM_001367624 NM_001362883 RefSeq (protein) NP_001354553 n/a Location (UCSC) Chr 16: 88.38 – 88.44 Mb Chr 8: 122.99 – 123 Mb PubMed search
Wikidata
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Zinc finger protein 469 is a protein that in humans is encoded by the ZNF469 gene.

Function

This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome.

Clinical significance

Mutations in ZNF469 are associated with keratoconus as well as a type of Ehlers-Danlos syndrome called brittle cornea syndrome.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000225614 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000043903 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ "Entrez Gene: Zinc finger protein 469". Retrieved 2014-08-07.
6. Vincent AL, Jordan CA, Cadzow MJ, Merriman TR, McGhee CN (2014). "Mutations in the zinc finger protein gene, ZNF469, contribute to the pathogenesis of keratoconus". Invest. Ophthalmol. Vis. Sci. 55 (9): 5629–35. doi:10.1167/iovs.14-14532. PMID 25097247.

Further reading

• Vitart V, Bencić G, Hayward C, Skunca Herman J, Huffman J, Campbell S, Bućan K, Navarro P, Gunjaca G, Marin J, Zgaga L, Kolcić I, Polasek O, Kirin M, Hastie ND, Wilson JF, Rudan I, Campbell H, Vatavuk Z, Fleck B, Wright A (2010). "New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8". Hum. Mol. Genet. 19 (21): 4304–11. doi:10.1093/hmg/ddq349. PMID 20719862.
• Christensen AE, Knappskog PM, Midtbø M, Gjesdal CG, Mengel-From J, Morling N, Rødahl E, Boman H (2010). "Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene". Invest. Ophthalmol. Vis. Sci. 51 (1): 47–52. doi:10.1167/iovs.09-4251. PMID 19661234.
• Lu Y, Dimasi DP, Hysi PG, Hewitt AW, Burdon KP, Toh T, Ruddle JB, Li YJ, Mitchell P, Healey PR, Montgomery GW, Hansell N, Spector TD, Martin NG, Young TL, Hammond CJ, Macgregor S, Craig JE, Mackey DA (2010). "Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness". PLOS Genet. 6 (5): e1000947. doi:10.1371/journal.pgen.1000947. PMC 2869325. PMID 20485516.
• Burkitt Wright EM, Spencer HL, Daly SB, Manson FD, Zeef LA, Urquhart J, Zoppi N, Bonshek R, Tosounidis I, Mohan M, Madden C, Dodds A, Chandler KE, Banka S, Au L, Clayton-Smith J, Khan N, Biesecker LG, Wilson M, Rohrbach M, Colombi M, Giunta C, Black GC (2011). "Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance". Am. J. Hum. Genet. 88 (6): 767–77. doi:10.1016/j.ajhg.2011.05.007. PMC 3113239. PMID 21664999.
• Khan AO, Aldahmesh MA, Alkuraya FS (2012). "Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation". Ophthalmic Genet. 33 (4): 257–9. doi:10.3109/13816810.2012.670362. PMID 22486320. S2CID 38585727.
• Abu A, Frydman M, Marek D, Pras E, Nir U, Reznik-Wolf H, Pras E (2008). "Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome". Am. J. Hum. Genet. 82 (5): 1217–22. doi:10.1016/j.ajhg.2008.04.001. PMC 2427192. PMID 18452888.
• Hoehn R, Zeller T, Verhoeven VJ, Grus F, Adler M, Wolfs RC, Uitterlinden AG, Castagne R, Schillert A, Klaver CC, Pfeiffer N, Mirshahi A (2012). "Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness". Hum. Genet. 131 (11): 1783–93. doi:10.1007/s00439-012-1201-3. PMID 22814818. S2CID 17779513.
• Khan AO, Aldahmesh MA, Mohamed JN, Alkuraya FS (2010). "Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X)". Arch. Ophthalmol. 128 (10): 1376–9. doi:10.1001/archophthalmol.2010.238. PMID 20938016.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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