• Gene id: 11081

Gene Summary

• Gene Symbol: KERA   Gene   UCSC   Ensembl
• Aliases: CNA2, KTN, SLRR2B
• Gene name: keratocan
• Alternate names: keratocan, keratan sulfate proteoglycan keratocan,
• Gene location: 12q21.33 (91058023: 91050490)     Exons: 3     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is a keratan sulfate proteoglycan that is involved in corneal transparency. Defects in this gene are a cause of autosomal recessive cornea plana 2 (CNA2).[provided by RefSeq, May 2010]
• OMIM: 126255

Protein Summary

• Protein general information: O60938  
  • Name: Keratocan (KTN) (Keratan sulfate proteoglycan keratocan)
  • Length: 352  
  • Mass: 40509
  • Tissue specificity: Cornea (at protein level) (PubMed
• Sequence:

  MAGTICFIMWVLFITDTVWSRSVRQVYEVHDSDDWTIHDFECPMECFCPPSFPTALYCENRGLKEIPAIPSRIWY
  LYLQNNLIETIPEKPFENATQLRWINLNKNKITNYGIEKGALSQLKKLLFLFLEDNELEEVPSPLPRSLEQLQLA
  RNKVSRIPQGTFSNLENLTLLDLQNNKLVDNAFQRDTFKGLKNLMQLNMAKNALRNMPPRLPANTMQLFLDNNSI
  EGIPENYFNVIPKVAFLRLNHNKLSDEGLPSRGFDVSSILDLQLSHNQLTKVPRISAHLQHLHLDHNKIKSVNVS
  VICPSPSMLPAERDSFSYGPHLRYLRLDGNEIKPPIPMALMTCFRLLQAVII

• Structural information:
  • Protein Domains: (33..7-)
    (/note="LRRNT"-)
  • Interpro: IPR001611  IPR003591  IPR032675  IPR000372  
  • Prosite: PS51450
  • STRING: ENSP00000266719
• Other Databases: GeneCards:  KERA  Malacards:  KERA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0050896	response to stimulus	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0018146	keratan sulfate biosynthetic process	TAS	biological process
GO:0042340	keratan sulfate catabolic process	TAS	biological process
GO:0061303	cornea development in camera-type eye	IEA	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0031012	extracellular matrix	NAS	cellular component

Diseases

Associated diseases	References
Cornea plana congenita	KEGG:H01029
Cornea plana congenita	KEGG:H01029
Keratoconus	PMID:11683372
Arcus senilis	PMID:10802664
Corneal dystrophy	PMID:10802664
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray