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KERA keratocan [ Homo sapiens (human) ]

Gene ID: 11081, updated on 13-Feb-2019

Summary

Official Symbol
KERAprovided by HGNC
Official Full Name
keratocanprovided by HGNC
Primary source
HGNC:HGNC:6309
See related
Ensembl:ENSG00000139330 MIM:603288
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

Genomic context

See KERA in Genome Data Viewer
Location:
12q21.33
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (91050491..91058354, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (91444268..91452131, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene coiled-coil glutamate rich protein 1 Neighboring gene epiphycan Neighboring gene lumican Neighboring gene decorin

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Defective B4GALT1 causes B4GALT1-CDG (CDG-2d), organism-specific biosystem (from REACTOME)
    Defective B4GALT1 causes B4GALT1-CDG (CDG-2d), organism-specific biosystemCongenital disorders of glycosylation (CDG, previously called carbohydrate-deficient glycoprotein syndromes, CDGSs), are a group of hereditary multisystem disorders. They are characterized biochemica...
  • Defective CHST6 causes MCDC1, organism-specific biosystem (from REACTOME)
    Defective CHST6 causes MCDC1, organism-specific biosystemCarbohydrate sulfotransferase 6 (CHST6) catalyzes the transfer of sulfate to position 6 of non-reducing ends of N-acetylglucosamine (GlcNAc) residues on keratan sulfate (KS). KS plays a central role ...
  • Defective ST3GAL3 causes MCT12 and EIEE15, organism-specific biosystem (from REACTOME)
    Defective ST3GAL3 causes MCT12 and EIEE15, organism-specific biosystemCMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase (ST3GAL3) mediates the transfer of sialic acid from CMP-sialic acid to galactose-containing glycoproteins and forms the sialyl...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases associated with glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
    Diseases associated with glycosaminoglycan metabolism, organism-specific biosystemA number of genetic disorders are caused by mutations in the genes encoding glycosyltransferases and sulfotransferases, enzymes responsible for the synthesis of glycosaminoglycans (GAGs) as well as ...
  • Diseases of glycosylation, organism-specific biosystem (from REACTOME)
    Diseases of glycosylation, organism-specific biosystemDiseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosylt...
  • Glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
    Glycosaminoglycan metabolism, organism-specific biosystemGlycosaminoglycans (GAGs) are long, unbranched polysaccharides containing a repeating disaccharide unit composed of a hexosamine (either N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc)...
  • Keratan sulfate biosynthesis, organism-specific biosystem (from REACTOME)
    Keratan sulfate biosynthesis, organism-specific biosystemKeratan sulfate (KSI) is the best characterised keratan sulfate. It is 10 times more abundant in cornea than cartilage. KSI is attached to an asparagine (Asn) residue on the core protein via an N-lin...
  • Keratan sulfate degradation, organism-specific biosystem (from REACTOME)
    Keratan sulfate degradation, organism-specific biosystemKeratan sulfate proteoglycans (KSPGs) are degraded in lysosomes as part of normal homeostasis of glycoproteins. Glycoproteins must be completely degraded to avoid undigested fragments building up and...
  • Keratan sulfate/keratin metabolism, organism-specific biosystem (from REACTOME)
    Keratan sulfate/keratin metabolism, organism-specific biosystemKeratan sulfate (KS) (a glycosaminoglycan, GAG) is a linear polysaccharide that consists of the repeating disaccharide unit GlcNAc-Gal (N-acetylglucosamine-galactose). KS can perform a structural fun...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
cornea development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
keratan sulfate biosynthetic process TAS
Traceable Author Statement
more info
 
keratan sulfate catabolic process TAS
Traceable Author Statement
more info
 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi lumen TAS
Traceable Author Statement
more info
 
extracellular matrix NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
keratocan
Names
keratan sulfate proteoglycan keratocan

NCBI Reference Sequences (RefSeq)

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_007035.3NP_008966.1  keratocan precursor

    See identical proteins and their annotated locations for NP_008966.1

    Status: REVIEWED

    Source sequence(s)
    AC078873, BC032667, BM722433, CV571245
    Consensus CDS
    CCDS9037.1
    UniProtKB/Swiss-Prot
    O60938
    Related
    ENSP00000266719.3, ENST00000266719.3
    Conserved Domains (2) summary
    sd00033
    Location:7396
    LRR_RI; leucine-rich repeat [structural motif]
    cl26018
    Location:48311
    NEL; C-terminal novel E3 ligase, LRR-interacting

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    91050491..91058354 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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