Keratocan

KERA
Identifiers
Aliases	KERA , CNA2, KTN, SLRR2B, keratocan
External IDs	OMIM: 603288 MGI: 1202398 HomoloGene: 5106 GeneCards: KERA
Gene location (Human)
Chr.	Chromosome 12 (human)
End	91,058,024 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	97,449,554 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; synovial joint; ; synovial membrane; ; gallbladder; ; lower lobe of lung; ; tibialis anterior muscle; ; trachea; ; human penis; ; urethra; ; superior surface of tongue;
	Top expressed in
	cornea; ; corneal stroma; ; conjunctival fornix; ; ankle; ; body of femur; ; digastric muscle; ; temporal muscle; ; intercostal muscle; ; triceps brachii muscle; ; soleus muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	molecular function ;
Cellular component	Golgi lumen ; extracellular region ; lysosomal lumen ; extracellular space ; extracellular matrix ;
Biological process	cornea development in camera-type eye ; keratan sulfate biosynthetic process ; keratan sulfate catabolic process ; axonogenesis ; response to stimulus ; visual perception ;
	Sources:Amigo / QuickGO
Orthologs
	11081
	16545
	ENSG00000139330
	ENSMUSG00000019932
	O60938
	O35367
	NM_007035
	NM_008438
	NP_008966
	NP_032464
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated August 18, 2023

Keratocan (KTN) also known as keratan sulfate proteoglycan keratocan, is a protein that in humans is encoded by the KERA gene.^[5]^[6]^[7]

Keratan sulfate proteoglycans (KSPGs) are members of the small leucine-rich proteoglycan (SLRP) family. KSPGs, particularly keratocan, lumican and mimecan, are important to the transparency of the cornea.^[7]

Mutations of the gene cause cornea plana 2.

Related Research Articles

Keratin 12 is a protein that in humans is encoded by the KRT12 gene.

Keratan sulfate (KS), also called keratosulfate, is any of several sulfated glycosaminoglycans that have been found especially in the cornea, cartilage, and bone. It is also synthesized in the central nervous system where it participates both in development and in the glial scar formation following an injury. Keratan sulfates are large, highly hydrated molecules which in joints can act as a cushion to absorb mechanical shock.

Lumican, also known as LUM, is an extracellular matrix protein that, in humans, is encoded by the LUM gene on chromosome 12.

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.

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Beta-crystallin B1 is a protein that in humans is encoded by the CRYBB1 gene. Variants in CRYBB1 are associated with autosomal dominant congenital cataract.

Osteoglycin, encoded by the OGN gene, is a human protein.

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Oxygen-regulated protein 1 also known as retinitis pigmentosa 1 protein (RP1) is a protein that in humans is encoded by the RP1 gene.

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

Hemicentin-1 is a protein that in humans is encoded by the HMCN1 gene.

Fascin-2 is a protein that in humans is encoded by the FSCN2 gene.

Interphotoreceptor matrix proteoglycan 1 is a protein that in humans is encoded by the IMPG1 gene.

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<span class="mw-page-title-main">Sclerocornea</span> Medical condition

Sclerocornea is a congenital anomaly of the eye in which the cornea blends with sclera, having no clear-cut boundary. The extent of the resulting opacity varies from peripheral to total. The severe form is thought to be inherited in an autosomal recessive manner, but there may be another, milder form that is expressed in a dominant fashion. In some cases the patients also have abnormalities beyond the eye (systemic), such as limb deformities and craniofacial and genitourinary defects.

Cornea plana 2 (CNA2) is an extremely rare congenital hereditary deformity of the eye surface, leading to severe decrease in corneal curvature. There is evidence that cornea plana 2 is caused by mutations in KERA gene encoding keratocan.

Zinc finger protein 469 is a protein that in humans is encoded by the ZNF469 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000139330 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000019932 - 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.
↑ Tasheva ES, Funderburgh JL, Funderburgh ML, Corpuz LM, Conrad GW (Jan 2000). "Structure and sequence of the gene encoding human keratocan". DNA Seq. 10 (1): 67–74. doi:10.3109/10425179909033939. PMID 10565548.
↑ Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivela T, Kucherlapati R, Forsius H, de la Chapelle A (Jun 2000). "Mutations in KERA, encoding keratocan, cause cornea plana". Nat Genet. 25 (1): 91–5. doi:10.1038/75664. PMID 10802664. S2CID 8837115.
1 2 "Entrez Gene: KERA keratocan".

Kurpakus Wheater M, Kernacki KA, Hazlett LD (1999). "Corneal cell proteins and ocular surface pathology". Biotechnic & Histochemistry. 74 (3): 146–59. doi:10.3109/10520299909047967. PMID 10416788.
Tahvanainen E, Forsius H, Karila E, et al. (1995). "Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis". Genomics. 26 (2): 290–3. doi:10.1016/0888-7543(95)80213-6. PMID 7601455.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID 8889548.
Tasheva ES, Pettenati M, Von Kap-Her C, Conrad GW (2000). "Assignment of keratocan gene (KERA) to human chromosome band 12q22 by in situ hybridization". Cytogenet. Cell Genet. 88 (3–4): 244–5. doi:10.1159/000015528. PMID 10828599. S2CID 31707663.
Tasheva ES, Conrad AH, Conrad GW (2000). "Identification and characterization of conserved cis-regulatory elements in the human keratocan gene promoter". Biochim. Biophys. Acta. 1492 (2–3): 452–9. doi:10.1016/s0167-4781(00)00129-9. PMID 10899581.
Wentz-Hunter K, Cheng EL, Ueda J, et al. (2002). "Keratocan expression is increased in the stroma of keratoconus corneas". Mol. Med. 7 (7): 470–7. doi:10.1007/BF03401852. PMC 1950054 . PMID 11683372.
Lehmann OJ, El-ashry MF, Ebenezer ND, et al. (2002). "A novel keratocan mutation causing autosomal recessive cornea plana". Invest. Ophthalmol. Vis. Sci. 42 (13): 3118–22. PMID 11726611.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC 139241 . PMID 12477932.
Khan A, Al-Saif A, Kambouris M (2004). "A novel KERA mutation associated with autosomal recessive cornea plana". Ophthalmic Genet. 25 (2): 147–52. doi:10.1080/13816810490514397. PMID 15370545. S2CID 44275816.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928 . PMID 15489334.
Ebenezer ND, Patel CB, Hariprasad SM, et al. (2005). "Clinical and molecular characterization of a family with autosomal recessive cornea plana". Arch. Ophthalmol. 123 (9): 1248–53. doi:10.1001/archopht.123.9.1248. PMID 16157807.
Liu T, Qian WJ, Gritsenko MA, et al. (2006). "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry". J. Proteome Res. 4 (6): 2070–80. doi:10.1021/pr0502065. PMC 1850943 . PMID 16335952.
Szabó V, Balogh K, Süveges I, et al. (2006). "The role of lumican and keratocan genes in persistent subepithelial corneal haze following excimer laser photorefractive keratectomy". Mol. Vis. 12: 597–605. PMID 16760896.
Khan AO, Aldahmesh M, Meyer B (2006). "Recessive cornea plana in the Kingdom of Saudi Arabia". Ophthalmology. 113 (10): 1773–8. doi:10.1016/j.ophtha.2006.04.026. PMID 17011957.
Aldave AJ, Sonmez B, Bourla N, et al. (2007). "Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2". Ophthalmic Genet. 28 (2): 57–67. doi:10.1080/13816810701351321. PMID 17558846. S2CID 23491990.
Liskova P, Hysi PG, Williams D, et al. (2007). "Study of p.N247S KERA mutation in a British family with cornea plana". Mol. Vis. 13: 1339–47. PMID 17679937.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000139330 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000019932 - 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.

[pmid10565548-5] Tasheva ES, Funderburgh JL, Funderburgh ML, Corpuz LM, Conrad GW (Jan 2000). "Structure and sequence of the gene encoding human keratocan". DNA Seq. 10 (1): 67–74. doi:10.3109/10425179909033939. PMID 10565548.

[pmid10802664-6] Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivela T, Kucherlapati R, Forsius H, de la Chapelle A (Jun 2000). "Mutations in KERA, encoding keratocan, cause cornea plana". Nat Genet. 25 (1): 91–5. doi:10.1038/75664. PMID 10802664. S2CID 8837115.

[entrez-7] 1 2 "Entrez Gene: KERA keratocan".

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Keratocan

Related Research Articles

References

Further reading