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ZNF469

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Zinc finger protein 469 is a protein that in humans is encoded by the ZNF469 gene.^[5]

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)^[1]

Band	16q24.2	Start	88,382,959 bp^[1]
Band	16q24.2	End	88,440,757 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 8 (mouse)^[2]

Band	8\|8 E1	Start	122,985,359 bp^[2]
Band	8\|8 E1	End	122,999,389 bp^[2]

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

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Function

edit

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.^[5]

Clinical significance

edit

Mutations in ZNF469 are associated to keratoconus.^[6] as well as a type of Ehlers-Danlos syndrome called brittle cornea syndrome.

References

edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000225614 – Ensembl, May 2017

^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000043903 – Ensembl, May 2017

^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

^ ^a ^b "Entrez Gene: Zinc finger protein 469". Retrieved 2014-08-07.

^ 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.

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.

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by expanding it.

Retrieved from "https://en.wikipedia.org/w/index.php?title=ZNF469&oldid=1187380251" Last edited on 28 November 2023, at 22:09

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ZNF469

Contents

Function

Clinical significance

References

Further reading

Languages