ENSG00000139330


Homo sapiens

Features
Gene ID: ENSG00000139330
  
Biological name :KERA
  
Synonyms : KERA / keratocan / O60938
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: q21.33
Gene start: 91050491
Gene end: 91057983
  
Corresponding Affymetrix probe sets: 220504_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000266719
NCBI entrez gene - 11081     See in Manteia.
OMIM - 603288
RefSeq - NM_007035
RefSeq Peptide - NP_008966
swissprot - O60938
Ensembl - ENSG00000139330
  
Related genetic diseases (OMIM): 217300 - Cornea plana 2, autosomal recessive, 217300
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 keraENSDARG00000056938Danio rerio
 KERAENSGALG00000011270Gallus gallus
 KeraENSMUSG00000019932Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PRELP / P51888 / proline and arginine rich end leucine rich repeat proteinENSG0000018878353
OMD / Q99983 / osteomodulinENSG0000012708339
FMOD / Q06828 / fibromodulinENSG0000012217638
LUM / P51884 / lumicanENSG0000013932934
ECM2 / O94769 / extracellular matrix protein 2ENSG0000010682330
ASPN / Q9BXN1 / asporinENSG0000010681926
BGN / P21810 / biglycanENSG0000018249226
DCN / P07585 / decorinENSG0000001146525
PODN / Q7Z5L7 / podocanENSG0000017434825
PODNL1 / Q6PEZ8 / podocan like 1ENSG0000013200024


Protein motifs (from Interpro)
Interpro ID Name
 IPR000372  Leucine-rich repeat N-terminal domain
 IPR001611  Leucine-rich repeat
 IPR003591  Leucine-rich repeat, typical subtype
 IPR032675  Leucine-rich repeat domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0018146 keratan sulfate biosynthetic process TAS
 biological_processGO:0042340 keratan sulfate catabolic process TAS
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0061303 cornea development in camera-type eye IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IBA
 cellular_componentGO:0005796 Golgi lumen TAS
 cellular_componentGO:0043202 lysosomal lumen TAS
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
Keratan sulfate biosynthesis
Keratan sulfate degradation
Defective CHST6 causes MCDC1
Defective ST3GAL3 causes MCT12 and EIEE15
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000540 Hypermetropia 
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 HP:0001084 Corneal arcus "A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years." [HPO:curators]
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 HP:0007720 Congenital cornea plana "Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age." [HPO:curators]
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 HP:0100689 Decreased corneal thickness 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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