Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



KERA Gene

protein-coding   GIFtS: 61
GCID: GC12M091377

Keratocan


(Previous symbol: CNA2)
  See KERA-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
keratocan1 2
CNA21 2 5
Keratan Sulfate Proteoglycan Keratocan2 3
KTN2 3
SLRR2B2 3
Keratocan Proteoglycan1

External Ids:    HGNC: 63091   Entrez Gene: 110812   Ensembl: ENSG000001393307   OMIM: 6032885   UniProtKB: O609383   

Export aliases for KERA gene to outside databases

Previous GC identifers: GC12M090766 GC12M091891 GC12M089946 GC12M088512


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for KERA Gene:
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)

GeneCards Summary for KERA Gene:
KERA (keratocan) is a protein-coding gene. Diseases associated with KERA include posterior amorphous corneal dystrophy, and cornea plana congenita, recessive. An important paralog of this gene is PODN.

UniProtKB/Swiss-Prot: KERA_HUMAN, O60938
Function: May be important in developing and maintaining corneal transparency and for the structure of the stromal
matrix

Gene Wiki entry for KERA (Keratocan) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the KERA gene promoter:
         Nkx3-1   Nkx3-1 v4   FOXF2   Nkx3-1 v1   CUTL1   GATA-1   Nkx3-1 v2   POU2F1   POU2F1a   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKERA promoter sequence
   Search Chromatin IP Primers for KERA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KERA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q22   Ensembl cytogenetic band:  12q21.33   HGNC cytogenetic band: 12q21.3-q22

KERA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KERA gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M091377:  view genomic region     (about GC identifiers)

Start:
91,444,268 bp from pter      End:
91,452,131 bp from pter
Size:
7,864 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: KERA_HUMAN, O60938 (See protein sequence)
Recommended Name: Keratocan precursor  
Size: 352 amino acids; 40509 Da

Explore the universe of human proteins at neXtProt for KERA: NX_O60938

Explore proteomics data for KERA at MOPED

Post-translational modifications: 

  • Binds keratan sulfate chains (By similarity)1
  • Glycosylation2 at Asn93, Asn167, Asn222, Asn298
  • Modification sites at PhosphoSitePlus

  • See KERA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_008966.1  
    ENSEMBL proteins: 
     ENSP00000266719  
    Reactome Protein details: O60938

    KERA Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for KERA
    OriGene Custom MassSpec
    OriGene Custom Protein Services for KERA
    GenScript Custom Purified and Recombinant Proteins Services for KERA
    Novus Biologicals KERA Protein
    Novus Biologicals KERA Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KERA

     
    Search eBioscience for Proteins for KERA 

     
    antibodies-online proteins for KERA (6 products) 

     
    antibodies-online peptides for KERA

    KERA Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for KERA
    Novus Biologicals KERA Antibodies
    Abcam antibodies for KERA
    Cloud-Clone Corp. Antibodies for KERA
    Search ThermoFisher Antibodies for KERA
    LSBio Antibodies in human, mouse, rat for KERA
    antibodies-online antibodies for KERA (27 products) 

    KERA Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for KERA
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for KERA
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for KERA
    Cloud-Clone Corp. CLIAs for KERA
    Search eBioscience for ELISAs for KERA 
    antibodies-online kits for KERA (15 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    SLRR: Proteoglycans / Extracellular Matrix : Small leucine-rich repeats

    2 InterPro protein domains:
     IPR001611 Leu-rich_rpt
     IPR000372 LRR-contain_N

    Graphical View of Domain Structure for InterPro Entry O60938

    ProtoNet protein and cluster: O60938

    1 Blocks protein domain: IPB000372 Cysteine-rich flanking region

    UniProtKB/Swiss-Prot: KERA_HUMAN, O60938
    Similarity: Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily
    Similarity: Contains 10 LRR (leucine-rich) repeats
    Similarity: Contains 1 LRRNT domain


    Find genes that share domains with KERA           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KERA_HUMAN, O60938
    Function: May be important in developing and maintaining corneal transparency and for the structure of the stromal
    matrix

         Genatlas biochemistry entry for KERA:
    keratocan,keratan sulfate proteoglycan,on of the three major constituents of corneal stroma,expressed during eye
    development and in adult corneal keratocytes,small leucine-rich proteoglycan family

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with KERA           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for KERA:
     Bright nuclei  Increased S DNA content 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Kera):
     hematopoietic system  immune system  vision/eye 

    Find genes that share phenotypes with KERA           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Keratm1Cyl for KERA

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KERA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KERA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KERA
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KERA

    miRNA
    Products:
        
    miRTarBase miRNAs that target KERA:
    hsa-mir-335-5p (MIRT018215)

    Block miRNA regulation of human, mouse, rat KERA using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate KERA:
    hsa-miR-219-1-3p hsa-miR-3664-5p hsa-miR-374b hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidKERA 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for KERA
    Predesigned siRNA for gene silencing in human, mouse, rat KERA

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for KERA

    Clone
    Products:
         
    OriGene clones in human, mouse for KERA (see all 5)
    OriGene ORF clones in mouse, rat for KERA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KERA (NM_007035)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KERA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KERA

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for KERA
    Browse ESI BIO Cell Lines and PureStem Progenitors for KERA 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KERA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    KERA_HUMAN, O60938: Secreted, extracellular space, extracellular matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    golgi apparatus4
    lysosome4
    vacuole4
    cytoskeleton1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix NAS10802664
    GO:0005796Golgi lumen TAS--
    GO:0043202lysosomal lumen TAS--

    Find genes that share ontologies with KERA           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for KERA About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIIB - Sanfilippo syndrome B0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS II - Hunter syndrome0.45
    MPS IV - Morquio syndrome A0.45
    Glycosaminoglycan metabolism0.45
    Mucopolysaccharidoses0.45
    MPS IV - Morquio syndrome B0.45
    2Keratan sulfate/keratin metabolism
    Keratan sulfate/keratin metabolism0.85
    Keratan sulfate degradation0.00
    Keratan sulfate biosynthesis0.85
    3Metabolism
    Metabolism0.38
    4Disease
    Disease


    Find genes that share SuperPaths with KERA           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for KERA
        Keratan sulfate biosynthesis
    Keratan sulfate degradation


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KERA
    Interactions:

        Search GeneGlobe Interaction Network for KERA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for KERA (O609382, 3 ENSP000002667194) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CXCL2P198753I2D: score=1 
    B3GNT7ENSP000002875904STRING: ENSP00000287590
    CHST1ENSP000003092704STRING: ENSP00000309270
    CHST5ENSP000003387834STRING: ENSP00000338783
    CHST6ENSP000003289834STRING: ENSP00000328983
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0007601visual perception IEA--
    GO:0018146keratan sulfate biosynthetic process TAS--
    GO:0030203glycosaminoglycan metabolic process TAS--
    GO:0042339keratan sulfate metabolic process TAS--

    Find genes that share ontologies with KERA           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KERA

    1 HMDB Compound for KERA    About this table
    CompoundSynonyms CAS #PubMed Ids
    KeratanKerato sulfate (see all 4)69992-87-6--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for KERA gene: 
    NM_007035.3  

    Unigene Cluster for KERA:

    Keratocan
    Hs.125750  [show with all ESTs]
    Unigene Representative Sequence: NM_007035
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000266719(uc001tbl.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat KERA using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate KERA:
    hsa-miR-219-1-3p hsa-miR-3664-5p hsa-miR-374b hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidKERA 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for KERA
    Predesigned siRNA for gene silencing in human, mouse, rat KERA
    Clone
    Products:
         
    OriGene clones in human, mouse for KERA (see all 5)
    OriGene ORF clones in mouse, rat for KERA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KERA (NM_007035)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KERA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KERA
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for KERA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KERA
      QuantiTect SYBR Green Assays in human, mouse, rat KERA
      QuantiFast Probe-based Assays in human, mouse, rat KERA

    Additional mRNA sequence: 

    AF063301.1 AF205403.1 AK314990.1 BC032667.2 

    1 DOTS entry:

    DT.208708 

    19 AceView cDNA sequences:

    AA456434 BC032667 AI340071 AA992157 BM722156 BE041592 AI278039 BM679097 
    AA884034 BX100837 BM720651 BM468960 AF063301 AF205403 BM722433 AI287530 
    BG115424 BM678956 NM_007035 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    KERA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTAATAAA
    KERA Expression
    About this image


    KERA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Keratoblasts Corneal Stroma
             Corneal Stroma
     
     Skeletal Muscle (Muscoskeletal System)
             Extraocular Muscles
     
     Limb (Muscoskeletal System)
             Autopod
     
     Endothelium (Cardiovascular System)
             Periocular Mesenchymal Cells Periocular Mesenchyme
     
     Bone (Muscoskeletal System)
             Zeugopod Epiphyseal End
    KERA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KERA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.125750

    UniProtKB/Swiss-Prot: KERA_HUMAN, O60938
    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

        Custom PCR Arrays for KERA
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for KERA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KERA
    QuantiTect SYBR Green Assays in human, mouse, rat KERA
    QuantiFast Probe-based Assays in human, mouse, rat KERA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KERA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for KERA gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kera1 , 5 keratocan1, 5 83.33(n)1
    86.57(a)1
      10 (50.34 cM)5
    165451  NM_008438.31  NP_032464.11 
     976072055 
    chicken
    (Gallus gallus)
    Aves KERA1 keratocan 70.55(n)
    69.89(a)
      373995  NM_204176.1  NP_989507.1 
    lizard
    (Anolis carolinensis)
    Reptilia KERA6
    keratocan
    64(a)
    1 ↔ 1
    5(32369442-32376285)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kera1 keratocan 62.27(n)
    58.45(a)
      100486796  XM_002937068.2  XP_002937114.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kera1 keratocan 61.36(n)
    62.34(a)
      567017  NM_001025548.2  NP_001020719.1 


    ENSEMBL Gene Tree for KERA (if available)
    TreeFam Gene Tree for KERA (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for KERA gene
    PODN2  FLRT12  PODNL12  FMOD2  PRELP2  FLRT32  OMD2  ASPN2  
    BGN2  DCN2  FLRT22  ECM22  LOC1005090912  LUM2  
    6 SIMAP similar genes for KERA using alignment to 1 protein entry:     KERA_HUMAN:
    MST161    PRELP    FMOD    LUM    OMD    PODN

    Find genes that share paralogs with KERA           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for KERA (see all 300)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0127544
    The autosomal recessive cornea plana 2 (CNA2)4--see VAR_0127542 N S mis40--------
    VAR_0127534
    The autosomal recessive cornea plana 2 (CNA2)4--see VAR_0127532 T K mis40--------
    rs1219178631,2
    Cpathogenic191287834(-) CAGAAC/TGAGAT 2 R * stg10--------
    rs1219178581,2
    Cpathogenic191291908(-) TCACAA/GCAAAC 2 N S mis11Minor allele frequency- G:0.00NA 4516
    rs1219178621,2
    Cpathogenic191292004(-) CAATAA/CAATGC 2 K T mis10--------
    rs1219178601,2
    Cpathogenic191292128(-) ACCTAC/TAGAAC 2 Q * stg10--------
    rs1881387971,2
    --91286422(+) ACATTA/GTATTA 1 -- ds50010--------
    rs1931183281,2
    --91286465(+) ATTACA/GTTTCT 1 -- ds50010--------
    rs1849752031,2
    --91286572(+) TTTAAA/GGAATA 1 -- ds50010--------
    rs1902665851,2
    --91286578(+) GAATAA/CTGTTG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for KERA (91444268 - 91452131 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for KERA:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv899425CNV Gain21882294

    Human Gene Mutation Database (HGMD): KERA
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KERA
    DNA2.0 Custom Variant and Variant Library Synthesis for KERA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 603288   
    OMIM disorders: 217300  
    UniProtKB/Swiss-Prot: KERA_HUMAN, O60938
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 9 diseases for KERA:    
    About MalaCards
    posterior amorphous corneal dystrophy    cornea plana congenita, recessive    exposure keratitis    cloacogenic carcinoma
    morquio syndrome b    mucopolysaccharidoses    pelizaeus-merzbacher disease    keratitis
    sly syndrome

    3 diseases from the University of Copenhagen DISEASES database for KERA:
    Exposure keratitis     Keratoconus     Cloacogenic carcinoma

    Find genes that share disorders with KERA           About GenesLikeMe

    Genetic Association Database (GAD): KERA
    Human Genome Epidemiology (HuGE) Navigator: KERA (3 documents)

    Export disorders for KERA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for KERA gene, integrated from 10 sources (see all 29):
    (articles sorted by number of sources associating them with KERA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in KERA, encoding keratocan, cause cornea plana. (PubMed id 10802664)1, 2, 3, 9 Pellegata N.S....de la Chapelle A. (Nat. Genet. 2000)
    2. Structure and sequence of the gene encoding human keratocan. (PubMed id 10565548)1, 2, 3, 9 Tasheva E.S....Conrad G.W. (DNA Seq. 1999)
    3. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (PLoS Genet. 2009)
    4. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (J. Proteome Res. 2005)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Keratocan expression is increased in the stroma of keratoconus corneas. (PubMed id 11683372)1, 2 Wentz-Hunter K.... Yue B.Y.J.T. (Mol. Med. 2001)
    7. A novel keratocan mutation causing autosomal recessive cornea plana. (PubMed id 11726611)1, 2 Lehmann O.J....Bhattacharya S.S. (Invest. Ophthalmol. Vis. Sci. 2001)
    8. Clinical and molecular characterization of a family with autosomal recessive cornea plana. (PubMed id 16157807)1, 9 Ebenezer N.D....Allen R.C. (Arch. Ophthalmol. 2005)
    9. Recessive cornea plana in the Kingdom of Saudi Arabia. (PubMed id 17011957)1, 9 Khan A.O....Meyer B. (Ophthalmology 2006)
    10. Assignment of keratocan gene (KERA) to human chromosome band 12q22 by in situ hybridization. (PubMed id 10828599)1, 9 Tasheva E.S....Conrad G.W. (Cytogenet. Cell Genet. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 11081 HGNC: 6309 AceView: KERA Ensembl:ENSG00000139330 euGenes: HUgn11081
    ECgene: KERA H-InvDB: KERA

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for KERA Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for KERA gene:
    Search GeneIP for patents involving KERA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for KERA  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for KERA  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for KERA  
     OriGene qSTAR qPCR primer pairs in human, mouse for KERA   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for KERA   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for KERA   OriGene Custom Protein Services for KERA  

     
     
     Block miRNA regulation of human, mouse, rat KERA using miScript Target Protectors SeqTarget long-range PCR primers for resequencing KERA
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KERA Predesigned siRNA for gene silencing in human, mouse, rat KERA
     QuantiFast Probe-based Assays in human, mouse, rat KERA QuantiTect SYBR Green Assays in human, mouse, rat KERA
     Custom PCR Arrays for KERA Search Chromatin IP Primers for KERA
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KERA  Search GeneGlobe Interaction Network for KERA
     Regulatory tfbs in KERA promoter
     GenScript Custom Purified and Recombinant Proteins Services for KERA GenScript cDNA clones with any tag delivered in your preferred vector for KERA
     GenScript Custom Assay Services for KERA GenScript Custom overexpressing Cell Line Services for KERA
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for KERA
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     KERA antibodies
     KERA proteins
     KERA lysates
     Antibodies for KERA
     See all of Abcam's Antibodies, Kits and Proteins for KERA
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for KERA
     Antibodies for KERA
     ELISAs for KERA
     CLIAs for KERA



     Browse ESI BIO Cell Lines and PureStem Progenitors for KERA
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KERA
     SwitchGear 3'UTR luciferase reporter plasmids for KERA
     SwitchGear Promoter luciferase reporter plasmids for KERA
     Search ThermoFisher Antibodies for KERA
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KERA
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KERA
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KERA
     LSBio Antibodies in human, mouse, rat for KERA
     Browse compounds at ApexBio
     Search Addgene for plasmids for KERA
      Search eBioscience for proteins for KERA
      Search eBioscience for elisas for KERA
      eBioscience FlowRNA Probe Sets
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     antibodies-online antibodies for KERA (27 products)
     antibodies-online kits for KERA (15 products)
     antibodies-online peptides for KERA
     antibodies-online proteins for KERA (6 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      KERA gene at Home site.
    Version: 3.12.234 23 Oct 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4