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KERA keratocan [ Homo sapiens (human) ]

Gene ID: 11081, updated on 14-Nov-2024

Summary

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Official Symbol
KERAprovided by HGNC
Official Full Name
keratocanprovided by HGNC
Primary source
HGNC:HGNC:6309
See related
Ensembl:ENSG00000139330 MIM:603288; AllianceGenome:HGNC:6309
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KTN; CNA2; SLRR2B
Summary
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]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See KERA in Genome Data Viewer
Location:
12q21.33
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (91050491..91058024, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (91028004..91035533, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (91444268..91451801, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6716 Neighboring gene coiled-coil glutamate rich protein 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:91377884-91378418 Neighboring gene epiphycan Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:91434914-91435454 Neighboring gene lumican Neighboring gene VISTA enhancer hs2540 Neighboring gene decorin

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Assignment of keratocan gene (KERA) to human chromosome band 12q22 by in situ hybridization. Tasheva ES, et al. Cytogenet Cell Genet, 2000. PMID 10828599
  2. Clinical and molecular characterization of a family with autosomal recessive cornea plana. Ebenezer ND, et al. Arch Ophthalmol, 2005 Sep. PMID 16157807
  3. Recessive cornea plana in the Kingdom of Saudi Arabia. Khan AO, et al. Ophthalmology, 2006 Oct. PMID 17011957
  4. A novel KERA mutation associated with autosomal recessive cornea plana. Khan A, et al. Ophthalmic Genet, 2004 Jun. PMID 15370545
  5. Study of p.N247S KERA mutation in a British family with cornea plana. Liskova P, et al. Mol Vis, 2007 Jul 27. PMID 17679937

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. We expand the phenotypic spectrum of biallelic KERA mutations in this report of a boy with juvenile corneal ectasia who was found to harbor an underlying novel homozygous mutation in the gene.
    Title: Corneal ectasia in a boy with homozygous KERA mutation.
  2. KERA mutation c.740A>G has been identified to date in three different populations, which makes it the most frequently occurring mutation in patients with cornea plana
    Title: Analysis of KERA in four families with cornea plana identifies two novel mutations.
  3. The mutation that we report here leads to the deletion of a conserved amino acid (p.Phe125del) from the third LRR motif of the keratocan protein, which might lead to an abnormal tertiary structure of the protein, thereby leading to the disease.
    Title: A Novel KERA Mutation in a Case of Autosomal Recessive Cornea Plana With Primary Angle-Closure Glaucoma.
  4. a novel KERA variant, p.(Ile225Thr), was detected that segregates with Cornea plana in the homozygous form.
    Title: Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.
  5. Corneal endothelial disorders were found with compound mutations in KERA
    Title: Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA.
  6. rare variant in KERA was identified in a large kindred with premature atherosclerosis
    Title: Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis.
  7. Linkage and haplotype analyses identified 12q21.33 as a locus for posterior amorphous corneal dystrophy. However, no mutations were identified in the candidate genes (KERA, LUM, DCN, EPYC) within this region.
    Title: Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness.
  9. Multiple core-protein species were detected for decorin, biglycan, lumican and keratocan in the degenerate osteoarthritic articular cartilage and menisci.
    Title: Fragmentation of decorin, biglycan, lumican and keratocan is elevated in degenerate human meniscus, knee and hip articular cartilages compared with age-matched macroscopically normal and control tissues.
  10. This is the first description of recessive cornea plana in a white British family and it is the second report on the p.N247S change in the KERA gene.
    Title: Study of p.N247S KERA mutation in a British family with cornea plana.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Cornea plana 2
MedGen: C1857574 OMIM: 217300 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.
EBI GWAS Catalog
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cornea development in camera-type eye IEA
Inferred from Electronic Annotation
more info
  
involved_in visual perception IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi lumen TAS
Traceable Author Statement
more info
  
located_in extracellular matrix NAS
Non-traceable Author Statement
more info
 PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in lysosomal lumen TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
keratocan
Names
keratan sulfate proteoglycan keratocan

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021223.1 RefSeqGene

    Range
    5001..12864
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_538

mRNA and Protein(s)

  1. NM_007035.4 → NP_008966.1  keratocan precursor

    See identical proteins and their annotated locations for NP_008966.1

    Status: REVIEWED

    Source sequence(s)
    AC078873
    Consensus CDS
    CCDS9037.1
    UniProtKB/Swiss-Prot
    O60938
    UniProtKB/TrEMBL
    B2RC89
    Related
    ENSP00000266719.3, ENST00000266719.4
    Conserved Domains (2) summary
    sd00033
    Location:73 → 96
    LRR_RI; leucine-rich repeat [structural motif]
    cl26018
    Location:48 → 311
    NEL; C-terminal novel E3 ligase, LRR-interacting

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    91050491..91058024 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    91028004..91035533 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60938.1 GenPept UniProtKB/Swiss-Prot:O60938

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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