Entity Details

Primary name KERA_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO60938
EntryNameKERA_HUMAN
FullNameKeratocan
TaxID9606
Evidenceevidence at protein level
Length352
SequenceStatuscomplete
DateCreated2002-02-11
DateModified2021-04-07

Ontological Relatives

GenesKERA

GO terms

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GOName
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005796 Golgi lumen
GO:0007601 visual perception
GO:0018146 keratan sulfate biosynthetic process
GO:0031012 extracellular matrix
GO:0042340 keratan sulfate catabolic process
GO:0043202 lysosomal lumen
GO:0050896 response to stimulus
GO:0061303 cornea development in camera-type eye

Subcellular Location

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Subcellular Location
Secreted

Domains

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DomainNameCategoryType
IPR000372 Leucine-rich repeat N-terminal domainDomainDomain
IPR001611 Leucine-rich repeatRepeatRepeat
IPR003591 Leucine-rich repeat, typical subtypeRepeatRepeat
IPR032675 Leucine-rich repeat domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
217300 OMIMCornea plana 2, autosomal recessive (CNA2)A severe form of cornea plana, a rare ocular disorder characterized by flattened corneal curvature leading to a decrease in refraction, reduced visual activity, hyperopia, hazy corneal limbus, opacities in the corneal parenchyma, and marked arcus senilis often detected at an early age. CNA2 patients manifest extreme hyperopia and additional ocular anomalies such as malformations of the iris, a slit-like pupil, and adhesions between iris and cornea. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
KERA_HUMANCDC37_HUMANIntAct25036637 details