KERA Gene (Protein Coding)

Keratocan

GC12M091050
GIFtS:
42
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] See more...

Aliases for KERA Gene

Aliases for KERA Gene

  • Keratocan 2 3 4 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 2, Autosomal Recessive and Congenital Cornea Plana. Among its related pathways are Keratan sulfate/keratin metabolism and Defective B4GALT1 causes B4GALT1-CDG (CDG-2d). An important paralog of this gene is PRELP.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for KERA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KERA Gene

Genomics for KERA Gene

GeneHancer (GH) Regulatory Elements for KERA Gene

Promoters and enhancers for KERA Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH12J091053 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 756.2 +2.6 2550 5.2 MAFK MAFF KERA hsa-miR-5095-097
GH12J091058 Enhancer 0.3 ENCODE dbSUPER 756 -1.3 -1257 1.9 KERA LUM
GH12J091175 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 14.6 -121.5 -121505 9.7 CTCF RAD21 PRDM1 POLR2A ZNF512 ZSCAN4 CEBPB ZNF316 SMC3 NR2F2 DCN lnc-LUM-1 KERA LUM ENSG00000258100
GH12J091098 Enhancer 0.9 Ensembl ENCODE dbSUPER 18.7 -41.1 -41052 2.4 POLR2A SMARCC1 CEBPB ATF7 JUN JUND EP300 FOS STAT3 TCF7L2 KERA EPYC LUM
GH12J091137 Enhancer 1.2 VISTA Ensembl ENCODE dbSUPER 10.6 -82.5 -82547 6.6 ZNF384 POLR2A CEBPB JUN EP300 FOS STAT3 RCOR1 FEZF1 LUM DCN KERA ENSG00000258100 lnc-LUM-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KERA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KERA gene promoter:
  • CUTL1
  • FOXF2
  • GATA-1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • POU2F1
  • POU2F1a

Genomic Locations for KERA Gene

Genomic Locations for KERA Gene
chr12:91,050,491-91,058,354
(GRCh38/hg38)
Size:
7,864 bases
Orientation:
Minus strand
chr12:91,444,268-91,452,131
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for KERA Gene

Proteins for KERA Gene

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  • 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

Protein Expression for KERA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KERA Gene

  • Binds keratan sulfate chains.
  • Glycosylation at Asn93, Asn167, Asn222, and Asn298
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for KERA Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KERA Gene

GenScript: Design optimal peptide antigens:
  • Keratan sulfate proteoglycan keratocan (KERA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60938

UniProtKB/Swiss-Prot:

KERA_HUMAN :
  • Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily.
Family:
  • Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily.
genes like me logo Genes that share domains with KERA: view

Function for KERA Gene

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Molecular function for KERA Gene

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

Phenotypes From GWAS Catalog for KERA Gene

Gene Ontology (GO) - Molecular Function for KERA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IEA --
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KERA

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KERA gene
Compartment Confidence
extracellular 5
lysosome 4
golgi apparatus 4
cytoskeleton 1
peroxisome 1
plasma membrane 0

Gene Ontology (GO) - Cellular Components for KERA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005796 Golgi lumen TAS --
GO:0031012 extracellular matrix NAS 10802664
GO:0043202 lysosomal lumen TAS --
genes like me logo Genes that share ontologies with KERA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KERA Gene

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:0007601 visual perception IEA --
GO:0018146 keratan sulfate biosynthetic process TAS --
GO:0042340 keratan sulfate catabolic process TAS --
GO:0050896 response to stimulus IEA --
GO:0061303 cornea development in camera-type eye 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

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  1. Drug

(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

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mRNA/cDNA for KERA Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KERA

Clone 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

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KERA Gene

mRNA expression in normal human tissues for KERA Gene
mRNA expression by GTEx for KERA GenemRNA expression by BioGPS 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 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 (at protein level) (PubMed:10802664, PubMed:11683372). Increased expression in the stroma of keratoconus corneas (PubMed:11683372). Also detected in trachea, and in low levels, in intestine, skeletal muscle, ovary, lung and putamen (PubMed:10802664).

Evidence on tissue expression from TISSUES for KERA Gene

  • Bone marrow(4.1)
  • Intestine(4.1)
  • Eye(3.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KERA Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with KERA: view

Orthologs for KERA Gene

This gene was present in the common ancestor of chordates.

Orthologs for KERA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia KERA 33 32
  • 99.53 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia KERA 33 32
  • 89.27 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia KERA 33 32
  • 89.05 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia KERA 33
  • 85 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia KERA 33
  • 84 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Kera 17 33 32
  • 83.33 (n)
rat
(Rattus norvegicus)
 Mammalia Kera 32
  • 82.19 (n)
chicken
(Gallus gallus)
 Aves KERA 33 32
  • 70.55 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia KERA 33
  • 64 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia kera 32
  • 62.27 (n)
zebrafish
(Danio rerio)
 Actinopterygii kera 33 32
  • 61.36 (n)
 OneToOne
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KERA: view image

Paralogs for KERA Gene

Paralogs for KERA Gene

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

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

Variants for KERA Gene

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Sequence variations from dbSNP and Humsavar for KERA Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs121917858 pathogenic, Cornea plana 2, Cornea plana 2, autosomal recessive (CNA2) [MIM:217300] 91,055,542(-) T/C coding_sequence_variant, missense_variant
rs121917860 pathogenic, Cornea plana 2 91,055,762(-) G/A/C coding_sequence_variant, missense_variant, stop_gained
rs121917862 pathogenic, Cornea plana 2, Cornea plana 2, autosomal recessive (CNA2) [MIM:217300] 91,055,638(-) G/T coding_sequence_variant, missense_variant
rs121917863 pathogenic, Cornea plana 2 91,051,468(-) G/A/C/T coding_sequence_variant, missense_variant, stop_gained, synonymous_variant
rs386833984 likely-pathogenic, Cornea plana 2 91,051,379(-) GG/G coding_sequence_variant, frameshift

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)

Additional Variant Information for KERA Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for KERA Gene

MalaCards: The human disease database

(15) MalaCards diseases for KERA Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cornea plana 2, autosomal recessive
  • cna2
congenital cornea plana
cornea plana
  • flat cornea
corneal ectasia
exposure keratitis
  • exposure keratoconjunctivitis
- 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.

Additional Disease Information for KERA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 NS … de la Chapelle A (Nature genetics 2000) 2 3 4 23 56
  2. Structure and sequence of the gene encoding human keratocan. (PMID: 10565548) Tasheva ES … Conrad GW (DNA sequence : the journal of DNA sequencing and mapping 1999) 2 3 4 23 56
  3. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler HE … Kim SK (PLoS genetics 2009) 3 43 56
  4. Recessive cornea plana in the Kingdom of Saudi Arabia. (PMID: 17011957) Khan AO … Meyer B (Ophthalmology 2006) 3 23 56
  5. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PMID: 16335952) Liu T … Smith RD (Journal of proteome research 2005) 3 4 56

ExternalLinks

View latest publications for KERA gene in Mastermind

Products for KERA Gene

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Sources for KERA Gene