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Aliases for KERA Gene

Aliases for KERA Gene

  • Keratocan 2 3 3 5
  • Keratan Sulfate Proteoglycan Keratocan 3 4
  • SLRR2B 3 4
  • KTN 3 4
  • Keratocan Proteoglycan 2
  • CNA2 3

External Ids for KERA Gene

Previous HGNC Symbols for KERA Gene

  • CNA2

Previous GeneCards Identifiers for KERA Gene

  • GC12M090766
  • GC12M091891
  • GC12M091377
  • GC12M089946
  • GC12M088512

Summaries for KERA Gene

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 Cornea Plana Congenita, Recessive and Congenital Cornea Plana. Among its related pathways are Diseases associated with O-glycosylation of proteins and Keratan sulfate/keratin metabolism. An important paralog of this gene is PRELP.

UniProtKB/Swiss-Prot for KERA Gene

  • May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix.

Gene Wiki entry for KERA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KERA Gene

Genomics for KERA Gene

Regulatory Elements for KERA Gene

Enhancers for KERA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around KERA on UCSC Golden Path with GeneCards custom track

Genomic Location for KERA Gene

Chromosome:
12
Start:
91,050,491 bp from pter
End:
91,058,354 bp from pter
Size:
7,864 bases
Orientation:
Minus strand

Genomic View for KERA Gene

Genes around KERA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KERA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KERA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KERA Gene

Proteins for KERA Gene

  • Protein details for KERA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60938-KERA_HUMAN
    Recommended name:
    Keratocan
    Protein Accession:
    O60938

    Protein attributes for KERA Gene

    Size:
    352 amino acids
    Molecular mass:
    40509 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KERA Gene

Post-translational modifications for KERA Gene

Other Protein References for KERA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KERA Gene

Domains & Families for KERA Gene

Gene Families for KERA Gene

Suggested Antigen Peptide Sequences for KERA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60938

UniProtKB/Swiss-Prot:

KERA_HUMAN :
  • Contains 1 LRRNT domain.
  • Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily.
  • Contains 10 LRR (leucine-rich) repeats.
Domain:
  • Contains 1 LRRNT domain.
Family:
  • Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily.
Similarity:
  • Contains 10 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with KERA: view

Function for KERA Gene

Molecular function for KERA Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot Function:
May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix.

Gene Ontology (GO) - Molecular Function for KERA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with KERA: view
genes like me logo Genes that share phenotypes with KERA: view

Human Phenotype Ontology for KERA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KERA Gene

MGI Knock Outs for KERA:

Animal Model Products

CRISPR Products

miRNA for KERA Gene

miRTarBase miRNAs that target KERA

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KERA Gene

Localization for KERA Gene

Subcellular locations from UniProtKB/Swiss-Prot for KERA Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KERA Gene COMPARTMENTS Subcellular localization image for KERA gene
Compartment Confidence
extracellular 5
golgi apparatus 4
lysosome 4
vacuole 4
cytoskeleton 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for KERA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix NAS 10802664
GO:0005615 extracellular space IBA --
GO:0005796 Golgi lumen TAS --
GO:0043202 lysosomal lumen TAS --
genes like me logo Genes that share ontologies with KERA: view

Pathways & Interactions for KERA Gene

genes like me logo Genes that share pathways with KERA: view

Gene Ontology (GO) - Biological Process for KERA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007409 NOT axonogenesis IBA --
GO:0007601 visual perception IEA --
GO:0018146 keratan sulfate biosynthetic process TAS --
GO:0042340 keratan sulfate catabolic process TAS --
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with KERA: view

No data available for SIGNOR curated interactions for KERA Gene

Drugs & Compounds for KERA Gene

(1) Additional Compounds for KERA Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Keratan
  • Keratan 6'-sulfate
  • Keratan 6'-sulphate
  • Keratan sulfate
  • Keratan sulphate
  • Kerato 6'-sulfate
69992-87-6
genes like me logo Genes that share compounds with KERA: view

Transcripts for KERA Gene

mRNA/cDNA for KERA Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(19) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KERA Gene

Keratocan:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KERA Gene

No ASD Table

Relevant External Links for KERA Gene

GeneLoc Exon Structure for
KERA
ECgene alternative splicing isoforms for
KERA

Expression for KERA Gene

mRNA expression in normal human tissues for KERA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KERA Gene

This gene is overexpressed in Uterus (x14.2), Breast - Mammary Tissue (x8.2), and Muscle - Skeletal (x6.7).

Protein differential expression in normal tissues from HIPED for KERA Gene

This gene is overexpressed in Adrenal (68.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KERA Gene



Protein tissue co-expression partners for KERA Gene

NURSA nuclear receptor signaling pathways regulating expression of KERA Gene:

KERA

SOURCE GeneReport for Unigene cluster for KERA Gene:

Hs.125750

mRNA Expression by UniProt/SwissProt for KERA Gene:

O60938-KERA_HUMAN
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.
genes like me logo Genes that share expression patterns with KERA: view

Primer Products

Orthologs for KERA Gene

This gene was present in the common ancestor of chordates.

Orthologs for KERA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KERA 34
  • 89.27 (n)
  • 92.31 (a)
KERA 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KERA 34
  • 89.05 (n)
  • 92.86 (a)
KERA 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kera 34
  • 83.33 (n)
  • 86.57 (a)
Kera 16
Kera 35
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KERA 34
  • 99.53 (n)
  • 99.72 (a)
KERA 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kera 34
  • 82.19 (n)
  • 87.14 (a)
oppossum
(Monodelphis domestica)
Mammalia KERA 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KERA 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves KERA 34
  • 70.55 (n)
  • 69.89 (a)
KERA 35
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KERA 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kera 34
  • 62.27 (n)
  • 58.45 (a)
zebrafish
(Danio rerio)
Actinopterygii kera 34
  • 61.36 (n)
  • 62.34 (a)
kera 35
  • 56 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 27 (a)
OneToMany
Species where no ortholog for KERA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KERA Gene

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

Paralogs for KERA Gene

Paralogs for KERA Gene

(6) SIMAP similar genes for KERA Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KERA: view

Variants for KERA Gene

Sequence variations from dbSNP and Humsavar for KERA Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs121917862 Cornea plana 2, autosomal recessive (CNA2) 91,055,638(-) CAATA(A/C)AATGC reference, missense
rs121917858 Cornea plana 2, autosomal recessive (CNA2) 91,055,542(-) TCACA(A/G)CAAAC reference, missense
rs737111 - 91,055,578(-) TAATG(G/T)GATTC reference, missense
rs1920771 -- 91,051,772(+) TACTG(C/T)TAAGA intron-variant
rs1920772 -- 91,052,069(+) ACATA(A/C)CTTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KERA Gene

Variant ID Type Subtype PubMed ID
nsv1039417 CNV loss 25217958
nsv1042800 CNV loss 25217958

Variation tolerance for KERA Gene

Residual Variation Intolerance Score: 36.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.21; 24.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KERA Gene

Human Gene Mutation Database (HGMD)
KERA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KERA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KERA Gene

Disorders for KERA Gene

MalaCards: The human disease database

(13) MalaCards diseases for KERA Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cornea plana congenita, recessive
  • cornea plana 2, autosomal recessive
congenital cornea plana
cornea plana
  • flat cornea
keratoconus
  • conical cornea
arcus senilis
  • arcus of cornea
- elite association - COSMIC cancer census association via MalaCards
Search KERA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KERA_HUMAN
  • Cornea plana 2, autosomal recessive (CNA2) [MIM:217300]: 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. {ECO:0000269 PubMed:10802664, ECO:0000269 PubMed:11726611}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KERA

Genetic Association Database (GAD)
KERA
Human Genome Epidemiology (HuGE) Navigator
KERA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KERA
genes like me logo Genes that share disorders with KERA: view

No data available for Genatlas for KERA Gene

Publications for KERA Gene

  1. Mutations in KERA, encoding keratocan, cause cornea plana. (PMID: 10802664) Pellegata N.S. … de la Chapelle A. (Nat. Genet. 2000) 2 3 4 22 65
  2. Structure and sequence of the gene encoding human keratocan. (PMID: 10565548) Tasheva E.S. … Conrad G.W. (DNA Seq. 1999) 2 3 4 22 65
  3. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler H.E. … Kim S.K. (PLoS Genet. 2009) 3 46 65
  4. Recessive cornea plana in the Kingdom of Saudi Arabia. (PMID: 17011957) Khan A.O. … Meyer B. (Ophthalmology 2006) 3 22 65
  5. Clinical and molecular characterization of a family with autosomal recessive cornea plana. (PMID: 16157807) Ebenezer N.D. … Allen R.C. (Arch. Ophthalmol. 2005) 3 22 65

Products for KERA Gene

Sources for KERA Gene

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