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Aliases for KRT3 Gene

Aliases for KRT3 Gene

  • Keratin 3 2 3 5
  • Keratin, Type II Cytoskeletal 3 2 3
  • Type-II Keratin Kb3 3 4
  • Keratin 3, Type II 2 3
  • 65 KDa Cytokeratin 3 4
  • Cytokeratin 3 2 3
  • CK-3 3 4
  • K3 3 4
  • Cytokeratin-3 4
  • Keratin-3 4
  • CK3 3

External Ids for KRT3 Gene

Previous GeneCards Identifiers for KRT3 Gene

  • GC12M053297
  • GC12P053675
  • GC12M052626
  • GC12M051469
  • GC12M053183
  • GC12M050227

Summaries for KRT3 Gene

Entrez Gene Summary for KRT3 Gene

  • The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the corneal epithelium with family member KRT12 and mutations in these genes have been associated with Meesmann's Corneal Dystrophy. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]

GeneCards Summary for KRT3 Gene

KRT3 (Keratin 3) is a Protein Coding gene. Diseases associated with KRT3 include Meesmann Corneal Dystrophy and Corneal Dystrophy. Among its related pathways are Developmental Biology. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT76.

Gene Wiki entry for KRT3 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT3 Gene

Genomics for KRT3 Gene

Regulatory Elements for KRT3 Gene

Enhancers for KRT3 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
GH12F052869 1.8 FANTOM5 Ensembl ENCODE 5.1 -67.6 -67609 7.1 PKNOX1 MLX ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF766 KRT2 IGFBP6 MAP3K12 AAAS KRT84 ZNF740 PFDN5 KRT79 ENSG00000259884 KRT4
GH12F052799 0.6 ENCODE 5.3 +6.4 6366 0.2 ZNF263 SMARCC1 JUN DPF2 JUND POLR2A FOSL2 FOS KRT3 ENSG00000257404
GH12F052805 0.2 ENCODE 0.8 +0.5 526 0.2 KRT3 ENSG00000257404
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KRT3 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRT3 Gene

Chromosome:
12
Start:
52,789,685 bp from pter
End:
52,805,717 bp from pter
Size:
16,033 bases
Orientation:
Minus strand

Genomic View for KRT3 Gene

Genes around KRT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT3 Gene

Proteins for KRT3 Gene

  • Protein details for KRT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12035-K2C3_HUMAN
    Recommended name:
    Keratin, type II cytoskeletal 3
    Protein Accession:
    P12035
    Secondary Accessions:
    • A6NIS2
    • Q701L8

    Protein attributes for KRT3 Gene

    Size:
    628 amino acids
    Molecular mass:
    64417 Da
    Quaternary structure:
    • Heterotetramer of two type I and two type II keratins. Keratin-3 associates with keratin-12.
    Miscellaneous:
    • There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).
    SequenceCaution:
    • Sequence=CAF31522.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for KRT3 Gene

Post-translational modifications for KRT3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for KRT3 Gene

Domains & Families for KRT3 Gene

Gene Families for KRT3 Gene

Suggested Antigen Peptide Sequences for KRT3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P12035

UniProtKB/Swiss-Prot:

K2C3_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT3: view

Function for KRT3 Gene

Molecular function for KRT3 Gene

GENATLAS Biochemistry:
keratin 3,type II (64kDa),expressed during corneal differentiation

Gene Ontology (GO) - Molecular Function for KRT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IMP 9171831
genes like me logo Genes that share ontologies with KRT3: view
genes like me logo Genes that share phenotypes with KRT3: view

Human Phenotype Ontology for KRT3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for KRT3 Gene

miRTarBase miRNAs that target KRT3

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KRT3 Gene

Localization for KRT3 Gene

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 KRT3 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 5
nucleus 3

Gene Ontology (GO) - Cellular Components for KRT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005882 intermediate filament NAS 9171831
GO:0045095 keratin filament IEA,TAS 9171831
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with KRT3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRT3 Gene

Pathways & Interactions for KRT3 Gene

SuperPathway Contained pathways
1 Developmental Biology
genes like me logo Genes that share pathways with KRT3: view

Pathways by source for KRT3 Gene

1 Reactome pathway for KRT3 Gene

Gene Ontology (GO) - Biological Process for KRT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030855 epithelial cell differentiation ISS --
GO:0045104 intermediate filament cytoskeleton organization IMP 9171831
genes like me logo Genes that share ontologies with KRT3: view

No data available for SIGNOR curated interactions for KRT3 Gene

Drugs & Compounds for KRT3 Gene

(4) Drugs for KRT3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with KRT3: view

Transcripts for KRT3 Gene

mRNA/cDNA for KRT3 Gene

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

Unigene Clusters for KRT3 Gene

Keratin 3:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRT3 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8
SP1:
SP2: - - - - - - -
SP3:

Relevant External Links for KRT3 Gene

GeneLoc Exon Structure for
KRT3
ECgene alternative splicing isoforms for
KRT3

Expression for KRT3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRT3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT3 Gene

This gene is overexpressed in Esophagus - Mucosa (x24.6), Minor Salivary Gland (x6.0), Vagina (x5.2), and Cervix - Ectocervix (x4.4).

Protein differential expression in normal tissues from HIPED for KRT3 Gene

This gene is overexpressed in Saliva (39.0) and Cervix (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KRT3 Gene



NURSA nuclear receptor signaling pathways regulating expression of KRT3 Gene:

KRT3

SOURCE GeneReport for Unigene cluster for KRT3 Gene:

Hs.680652

mRNA Expression by UniProt/SwissProt for KRT3 Gene:

P12035-K2C3_HUMAN
Tissue specificity: Cornea specific.
genes like me logo Genes that share expression patterns with KRT3: view

Primer Products

No data available for Protein tissue co-expression partners for KRT3 Gene

Orthologs for KRT3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRT3 35
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KRT3 35
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KRT3 35
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 76 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 73 (a)
OneToMany
mouse
(Mus musculus)
Mammalia 4732456N10Rik 35
  • 59 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 35
  • 62 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 59 (a)
OneToMany
Species where no ortholog for KRT3 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KRT3 Gene

ENSEMBL:
Gene Tree for KRT3 (if available)
TreeFam:
Gene Tree for KRT3 (if available)

Paralogs for KRT3 Gene

Pseudogenes.org Pseudogenes for KRT3 Gene

genes like me logo Genes that share paralogs with KRT3: view

Variants for KRT3 Gene

Sequence variations from dbSNP and Humsavar for KRT3 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs57872071 Corneal dystrophy, Meesmann (MECD) [MIM:122100], Pathogenic 52,791,216(-) AGGGC(A/G)AGGAG reference, missense
rs60410063 Corneal dystrophy, Meesmann (MECD) [MIM:122100], Pathogenic 52,791,233(-) CTACC(A/C/G/T)CAAGC reference, missense
rs267607431 Pathogenic 52,791,248(-) CGTGG(A/T)GATCG reference, missense
rs10783537 -- 52,795,080(+) GTGGC(C/T)GTGGC intron-variant
rs10783538 -- 52,796,606(+) TGCAC(A/C)GTATG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KRT3 Gene

Variant ID Type Subtype PubMed ID
esv3446771 CNV insertion 20981092
esv3629524 CNV gain 21293372
nsv832416 CNV loss 17160897
nsv975494 CNV duplication 23825009

Variation tolerance for KRT3 Gene

Residual Variation Intolerance Score: 93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.50; 98.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRT3 Gene

Human Gene Mutation Database (HGMD)
KRT3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT3 Gene

Disorders for KRT3 Gene

MalaCards: The human disease database

(17) MalaCards diseases for KRT3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
meesmann corneal dystrophy
  • corneal dystrophy, meesmann
corneal dystrophy
corneal disease
  • corneal diseases
limbal stem cell deficiency
iridocorneal endothelial syndrome
  • ichthyosis--cheek--eyebrow syndrome
- elite association - COSMIC cancer census association via MalaCards
Search KRT3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

K2C3_HUMAN
  • Corneal dystrophy, Meesmann (MECD) [MIM:122100]: An autosomal dominant corneal disease characterized by fragility of the anterior corneal epithelium. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris-laden intraepithelial cysts. {ECO:0000269 PubMed:16227835, ECO:0000269 PubMed:9171831}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KRT3

Genetic Association Database (GAD)
KRT3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRT3
genes like me logo Genes that share disorders with KRT3: view

No data available for Genatlas for KRT3 Gene

Publications for KRT3 Gene

  1. Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. (PMID: 16227835) Chen Y.T. … Chao S.C. (Cornea 2005) 3 4 22 64
  2. Assignment of the human cytokeratin 3 gene (KRT3) to 12q12-->q13 by FISH. (PMID: 7510223) Raimondi E. … Romano V. (Cytogenet. Cell Genet. 1994) 2 3 22 64
  3. Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation. (PMID: 18806880) Szaflik J.P. … Szaflik J. (Mol. Vis. 2008) 3 22 64
  4. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J. … Wright M.W. (J. Cell Biol. 2006) 2 3 64
  5. Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q13.13. (PMID: 15737194) Rogers M.A. … Schweizer J. (J. Invest. Dermatol. 2005) 3 4 64

Products for KRT3 Gene

Sources for KRT3 Gene

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