InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KERA

Summary

InnateDB Protein

IDBP-50811.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

KERA

Protein Name

keratocan

Synonyms

CNA2; KTN; SLRR2B;

Species

Homo sapiens

Ensembl Protein

ENSP00000266719

InnateDB Gene

IDBG-50809 (KERA)

Protein Structure

UniProt Annotation

Function

May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix.

Subcellular Localization

Secreted, extracellular space, extracellular matrix {ECO:0000250}.

Disease Associations

The autosomal recessive cornea plana 2 (CNA2) [MIM:217300]: In CNA2, the forward convex curvature is flattened, leading to a decrease in refraction, reduced visual activity, extreme hyperopia (usually plus 10 d or more), hazy corneal limbus, opacities in the corneal parenchyma, and marked arcus senilis (often detected at an early age). CNA2 is a rare disorder with a worldwide distribution, but a high prevalence in the Finnish population. {ECO:0000269PubMed:10802664, ECO:0000269PubMed:11726611}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Cornea. Increased expression in the stroma of keratoconus corneas. Also detected in trachea, and in low levels, in intestine, skeletal muscle, ovary, lung and putamen. {ECO:0000269PubMed:11683372}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003674	molecular_function
GO:0005515	protein binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0007601	visual perception
GO:0018146	keratan sulfate biosynthetic process
GO:0030203	glycosaminoglycan metabolic process
GO:0042339	keratan sulfate metabolic process
GO:0042340	keratan sulfate catabolic process
GO:0044281	small molecule metabolic process
GO:0050896	response to stimulus
GO:0061303	cornea development in camera-type eye