ZNF469

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)
End	88,440,757 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	122,999,389 bp
RNA expression pattern
	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
	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
	84627
	195209
	ENSG00000225614
	ENSMUSG00000043903
	Q96JG9
	n/a
	NM_001127464 ; NM_001367624
	NM_001362883
	NP_001354553
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated August 29, 2024

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

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.^[5]

Clinical significance

Mutations in ZNF469 are associated with keratoconus ^[6] as well as a type of Ehlers-Danlos syndrome called brittle cornea syndrome.^{[ citation needed ]}

Related Research Articles

Keratin 12 is a protein that in humans is encoded by the KRT12 gene. It's a type I keratin.

The stroma of the cornea is a fibrous, tough, unyielding, perfectly transparent and the thickest layer of the cornea of the eye. It is between Bowman's layer anteriorly, and Descemet's membrane posteriorly.

Transforming growth factor, beta-induced, 68kDa, also known as TGFBI, is a protein which in humans is encoded by the TGFBI gene, locus 5q31.

Carbohydrate sulfotransferase 6 is an enzyme that in humans is encoded by the CHST6 gene.

Crumbs homolog 1 is a protein that in humans is encoded by the CRB1 gene.

Kinesin-like protein KIF21A is a protein that in humans is encoded by the KIF21A gene.

Keratocan (KTN) also known as keratan sulfate proteoglycan keratocan, is a protein that in humans is encoded by the KERA gene.

Collagen alpha-2(VIII) chain is a protein that in humans is encoded by the COL8A2 gene. Mutations of the gene are linked to posterior polymorphous dystrophy type 2.

Cyclic nucleotide gated channel beta 3, also known as CNGB3, is a human gene encoding an ion channel protein.

Collagen alpha-1(VIII) chain is a protein that in humans is encoded by the COL8A1 gene.

Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. BBS1 is part of the BBSome complex, which required for ciliogenesis. Mutations in this gene have been observed in patients with the major form of Bardet–Biedl syndrome.

Sodium bicarbonate transporter-like protein 11 is a protein that in humans is encoded by the SLC4A11 gene.

Heat shock factor protein 4 is a protein that in humans is encoded by the HSF4 gene.

Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene.

Nance-Horan syndrome protein is a protein that in humans is encoded by the NHS gene.

Membrane frizzled-related protein is a protein that in humans is encoded by the MFRP gene.

Congenital stromal corneal dystrophy (CSCD) is an extremely rare, autosomal dominant form of corneal dystrophy. Only 4 families have been reported to have the disease by 2009. The main features of the disease are numerous opaque flaky or feathery areas of clouding in the stroma that multiply with age and eventually preclude visibility of the endothelium. Strabismus or primary open angle glaucoma was noted in some of the patients. Thickness of the cornea stays the same, Descemet's membrane and endothelium are relatively unaffected, but the fibrils of collagen that constitute stromal lamellae are reduced in diameter and lamellae themselves are packed significantly more tightly.

Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene.

Knobloch syndrome is a rare genetic disorder presenting severe eyesight problems and often a defect in the skull. It was named after the ophthalmologist William Hunter Knobloch (1926–2005), who first described the syndrome in 1971. A usual occurrence is a degeneration of the vitreous humour and the retina, two components of the eye. This breakdown often results in the separation of the retina from the eye, called retinal detachment, which can be recurrent. Extreme myopia (near-sightedness) is a common feature. The limited evidence available from electroretinography suggests that a cone-rod pattern of dysfunction is also a feature.

Solute carrier family 16 member 12 is a protein that in humans is encoded by the SLC16A12 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000225614 – Ensembl, May 2017
1 2 3 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.
1 2 "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.

This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000225614 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] 1 2 "Entrez Gene: Zinc finger protein 469" . Retrieved 2014-08-07.

[pmid25097247-6] 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.

[1]

[2]

[3]

[4]

[5]

[6]

ZNF469

Contents

Function

Clinical significance

Related Research Articles

References

Further reading