Keratocan

KERA

Identifiers

KERA, CNA2, KTN, SLRR2B, keratocan

External IDs

OMIM: 603288 MGI: 1202398 HomoloGene: 5106 GeneCards: KERA

Gene location (Human)

Chr.	Chromosome 12 (human)^[1]

Band	12q21.33	Start	91,050,491 bp^[1]
Band	12q21.33	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]
Band	10 C3\|10 50.34 cM	End	97,449,554 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

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

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000139330 - Ensembl, May 2017
^ ^a ^b ^c 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.
^ ^a ^b "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.

Protein, glycoconjugate: glycoproteins and glycopeptides

Mucoproteins

Mucin	CD43 CD164 MUC1 MUC2 MUC3A MUC3B MUC4 MUC5AC MUC5B MUC6 MUC7 MUC8 MUC12 MUC13 MUC15 MUC16 MUC17 MUC19 MUC20
Other	Haptoglobin Intrinsic factor Orosomucoid Peptidoglycan Phytohaemagglutinin Ovomucin

Proteoglycans

CS/DS	Decorin Biglycan Versican
HS/CS	Testican Perlecan
CS	Chondroitin sulfate proteoglycans: Aggrecan Neurocan Brevican CD44 CSPG4 CSPG5 Platelet factor 4 Structural maintenance of chromosomes 3
KS	Fibromodulin Lumican Keratocan
HS	Syndecan 1

Other

Eye proteins

Opsin
(retinylidene protein)

visual	Rhodopsin Cone opsins OPN1LW OPN1MW/OPN1MW2 OPN1SW
nonvisual	Melanopsin OPN3 OPN5 RRH RGR

Crystallin

Alpha (A
B)
Beta (A1
A2
A4
B1
B2
B3)
Gamma (A
B
C
D
N
S)

Other

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This page was last edited on 17 August 2023, at 18:52

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References

Further reading