Keratocan

KERA
Identifiers
Aliases	KERA , CNA2, KTN, SLRR2B, keratocan
External IDs	OMIM: 603288; MGI: 1202398; HomoloGene: 5106; GeneCards: KERA; OMA:KERA - orthologs
Gene location (Human) Chr. Chromosome 12 (human) [1] Band 12q21.33 Start 91,050,491 bp [1] End 91,058,024 bp [1]
Gene location (Mouse) Chr. Chromosome 10 (mouse) [2] Band 10 C3|10 50.34 cM Start 97,442,741 bp [2] End 97,449,554 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon testicle cartilage tissue synovial joint tendon of biceps brachii synovial membrane gallbladder lower lobe of lung tibialis anterior muscle trachea 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 BioGPS 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 Species Human Mouse Entrez 11081 16545 Ensembl ENSG00000139330 ENSMUSG00000019932 UniProt O60938 O35367 RefSeq (mRNA) NM_007035 NM_008438 RefSeq (protein) NP_008966 NP_032464 Location (UCSC) Chr 12: 91.05 – 91.06 Mb Chr 10: 97.44 – 97.45 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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.

References

1. GRCh38: Ensembl release 89: ENSG00000139330 – Ensembl, May 2017
2. 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.
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.
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.
7. "Entrez Gene: KERA keratocan".

Further reading

• 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.