Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene's expression profile shows that it encodes a type II epithelial keratin, although structurally the encoded protein is more like a type II hair keratin. This protein is involved in cell differentiation, ... See more...

Aliases for KRT80 Gene

Aliases for KRT80 Gene

  • Keratin 80 2 3 5
  • Keratin, Type II Cytoskeletal 80 3 4
  • Type-II Keratin Kb20 3 4
  • Keratin 80, Type II 2 3
  • Cytokeratin-80 3 4
  • CK-80 3 4
  • KB20 3 4
  • K80 3 4
  • Type II Keratin 3
  • Keratin B20 3
  • Keratin-80 4

External Ids for KRT80 Gene

Previous GeneCards Identifiers for KRT80 Gene

  • GC12M050850
  • GC12M052562
  • GC12M049596

Summaries for KRT80 Gene

Entrez Gene Summary for KRT80 Gene

  • Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene's expression profile shows that it encodes a type II epithelial keratin, although structurally the encoded protein is more like a type II hair keratin. This protein is involved in cell differentiation, localizing near desmosomal plaques in earlier stages of differentiation but then dispersing throughout the cytoplasm in terminally differentiating cells. The type II keratins are clustered in a region of chromosome 12q13. Two transcript variants encoding two different fully functional isoforms have been found for this gene.[provided by RefSeq, Oct 2010]

GeneCards Summary for KRT80 Gene

KRT80 (Keratin 80) is a Protein Coding gene. Diseases associated with KRT80 include Cervix Uteri Carcinoma In Situ and Uterus Carcinoma In Situ. Among its related pathways are Developmental Biology and Keratinization. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT75.

Gene Wiki entry for KRT80 Gene

Additional gene information for KRT80 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRT80 Gene

Genomics for KRT80 Gene

GeneHancer (GH) Regulatory Elements for KRT80 Gene

Promoters and enhancers for KRT80 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRT80 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KRT80 gene promoter:
  • CBF-A
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GR
  • GR-alpha
  • GR-beta

Genomic Locations for KRT80 Gene

Genomic Locations for KRT80 Gene
chr12:52,168,996-52,192,014
(GRCh38/hg38)
Size:
23,019 bases
Orientation:
Minus strand
chr12:52,562,780-52,585,784
(GRCh37/hg19)
Size:
23,005 bases
Orientation:
Minus strand

Genomic View for KRT80 Gene

Genes around KRT80 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT80 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT80 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT80 Gene

Proteins for KRT80 Gene

  • Protein details for KRT80 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6KB66-K2C80_HUMAN
    Recommended name:
    Keratin, type II cytoskeletal 80
    Protein Accession:
    Q6KB66
    Secondary Accessions:
    • Q6P1A5
    • Q7Z3Q0

    Protein attributes for KRT80 Gene

    Size:
    452 amino acids
    Molecular mass:
    50525 Da
    Quaternary structure:
    • Heterotetramer of two type I and two type II keratins.
    Miscellaneous:
    • There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

    Alternative splice isoforms for KRT80 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KRT80 Gene

Post-translational modifications for KRT80 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT80 Gene

No data available for DME Specific Peptides for KRT80 Gene

Domains & Families for KRT80 Gene

Gene Families for KRT80 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for KRT80 Gene

GenScript: Design optimal peptide antigens:
  • Type-II keratin Kb20 (K2C80_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6KB66

UniProtKB/Swiss-Prot:

K2C80_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT80: view

Function for KRT80 Gene

Phenotypes From GWAS Catalog for KRT80 Gene

Gene Ontology (GO) - Molecular Function for KRT80 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KRT80: view
genes like me logo Genes that share phenotypes with KRT80: view

Animal Model Products

CRISPR Products

miRNA for KRT80 Gene

miRTarBase miRNAs that target KRT80

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRT80 Gene

Localization for KRT80 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 KRT80 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
mitochondrion 1
nucleus 1
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KRT80 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0045095 keratin filament IEA --
GO:0045111 intermediate filament cytoskeleton IDA --
genes like me logo Genes that share ontologies with KRT80: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRT80 Gene

Pathways & Interactions for KRT80 Gene

PathCards logo

SuperPathways for KRT80 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRT80: view

Pathways by source for KRT80 Gene

2 Reactome pathways for KRT80 Gene

Gene Ontology (GO) - Biological Process for KRT80 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with KRT80: view

No data available for SIGNOR curated interactions for KRT80 Gene

Drugs & Compounds for KRT80 Gene

No Compound Related Data Available

Transcripts for KRT80 Gene

mRNA/cDNA for KRT80 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRT80 Gene

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

Relevant External Links for KRT80 Gene

GeneLoc Exon Structure for
KRT80
ECgene alternative splicing isoforms for
KRT80

Expression for KRT80 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRT80 Gene

mRNA differential expression in normal tissues according to GTEx for KRT80 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x19.1), Skin - Not Sun Exposed (Suprapubic) (x17.3), and Esophagus - Mucosa (x4.7).

Protein differential expression in normal tissues from HIPED for KRT80 Gene

This gene is overexpressed in Cervix (35.6), Saliva (8.2), Brain (7.1), and Nasal epithelium (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRT80 Gene



NURSA nuclear receptor signaling pathways regulating expression of KRT80 Gene:

KRT80

SOURCE GeneReport for Unigene cluster for KRT80 Gene:

Hs.140978

mRNA Expression by UniProt/SwissProt for KRT80 Gene:

Q6KB66-K2C80_HUMAN
Tissue specificity: Weakly expressed in tongue, but not skin or in any other tissues or organs examined.

Evidence on tissue expression from TISSUES for KRT80 Gene

  • Skin(4.5)
genes like me logo Genes that share expression patterns with KRT80: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT80 Gene

Orthologs for KRT80 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT80 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRT80 33 32
  • 99.11 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KRT80 33 32
  • 88.81 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KRT80 33 32
  • 88.42 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Krt80 32
  • 85.55 (n)
mouse
(Mus musculus)
Mammalia Krt80 17 33 32
  • 85.32 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KRT80 33
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves KRT80 33 32
  • 64.13 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KRT80 33
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii KRT80 33
  • 41 (a)
OneToOne
Species where no ortholog for KRT80 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)
  • oppossum (Monodelphis domestica)
  • 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 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)

Evolution for KRT80 Gene

ENSEMBL:
Gene Tree for KRT80 (if available)
TreeFam:
Gene Tree for KRT80 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRT80: view image

Paralogs for KRT80 Gene

genes like me logo Genes that share paralogs with KRT80: view

Variants for KRT80 Gene

Sequence variations from dbSNP and Humsavar for KRT80 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000021514 -- 52,181,571(-) G/A intron_variant
rs1000122956 -- 52,186,607(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000154114 -- 52,186,902(-) C/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000182835 -- 52,190,095(-) G/A/T genic_upstream_transcript_variant, intron_variant
rs1000328087 -- 52,192,022(-) A/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KRT80 Gene

Variant ID Type Subtype PubMed ID
esv2759899 CNV gain 17122850
esv3581594 CNV gain 25503493
nsv1038149 CNV gain 25217958
nsv832409 CNV loss 17160897

Variation tolerance for KRT80 Gene

Residual Variation Intolerance Score: 97% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.75; 57.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRT80 Gene

Human Gene Mutation Database (HGMD)
KRT80
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT80

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT80 Gene

Disorders for KRT80 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KRT80 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
cervix uteri carcinoma in situ
  • carcinoma in situ of cervix
uterus carcinoma in situ
- elite association - COSMIC cancer census association via MalaCards
Search KRT80 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KRT80

genes like me logo Genes that share disorders with KRT80: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRT80 Gene

Publications for KRT80 Gene

  1. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J … Wright MW (The Journal of cell biology 2006) 2 3 56
  2. 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 MA … Schweizer J (The Journal of investigative dermatology 2005) 3 4 56
  3. SREBP1 drives Keratin-80-dependent cytoskeletal changes and invasive behavior in endocrine-resistant ERα breast cancer. (PMID: 31073170) Perone Y … Magnani L (Nature communications 2019) 3 56
  4. The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation. (PMID: 29845934) Faust TB … Frankel AD (eLife 2018) 3 56
  5. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 56

Products for KRT80 Gene

Sources for KRT80 Gene