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Aliases for KRT6C Gene

Aliases for KRT6C Gene

  • Keratin 6C, Type II 2 3
  • Type-II Keratin Kb12 3 4
  • Cytokeratin-6C 3 4
  • Cytokeratin-6E 3 4
  • Keratin K6h 3 4
  • Keratin 6E 2 3
  • Keratin-6C 3 4
  • PPKNEFD 3 6
  • KRT6E 3 4
  • CK-6C 3 4
  • CK-6E 3 4
  • K6C 3 4
  • Keratin, Type II Cytoskeletal 6C 3
  • Keratin 6C 2
  • K6E 3

External Ids for KRT6C Gene

Previous HGNC Symbols for KRT6C Gene

  • KRT6E

Previous GeneCards Identifiers for KRT6C Gene

  • GC12U990221
  • GC12M052911
  • GC12M052597
  • GC12M051169
  • GC12M051172
  • GC12M051174
  • GC12M051150
  • GC12M052865
  • GC12M049906

Summaries for KRT6C Gene

Entrez Gene Summary for KRT6C Gene

  • Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jul 2009]

GeneCards Summary for KRT6C Gene

KRT6C (Keratin 6C, Type II) is a Protein Coding gene. Diseases associated with KRT6C include palmoplantar keratoderma, nonepidermolytic, focal or diffuse and autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering. Among its related pathways are Cytoskeletal Signaling and Cytoskeleton remodeling Neurofilaments. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT82.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT6C Gene

Genomics for KRT6C Gene

Regulatory Elements for KRT6C Gene

Genomic Location for KRT6C Gene

Start:
52,468,516 bp from pter
End:
52,473,785 bp from pter
Size:
5,270 bases
Orientation:
Minus strand

Genomic View for KRT6C Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KRT6C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT6C Gene

Proteins for KRT6C Gene

  • Protein details for KRT6C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48668-K2C6C_HUMAN
    Recommended name:
    Keratin, type II cytoskeletal 6C
    Protein Accession:
    P48668
    Secondary Accessions:
    • A1L4L5
    • P48666
    • Q2TAZ9
    • Q7RTN9

    Protein attributes for KRT6C Gene

    Size:
    564 amino acids
    Molecular mass:
    60025 Da
    Quaternary structure:
    • Heterodimer of a type I and a type II keratin. KRT6 isomers associate with KRT16 and/or KRT17
    Miscellaneous:
    • There are at least six isoforms of human type II keratin-6 (K6)
    • There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively)

neXtProt entry for KRT6C Gene

Proteomics data for KRT6C Gene at MOPED

Post-translational modifications for KRT6C Gene

  • Ubiquitination at Lys173, Lys180, and Lys252
  • Modification sites at PhosphoSitePlus

Other Protein References for KRT6C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT6C Gene

Domains for KRT6C Gene

Gene Families for KRT6C Gene

HGNC:
  • IFF2 :Intermediate filaments type II, keratins (basic)

Protein Domains for KRT6C Gene

Suggested Antigen Peptide Sequences for KRT6C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P48668

UniProtKB/Swiss-Prot:

K2C6C_HUMAN :
  • P48668
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT6C: view

Function for KRT6C Gene

Gene Ontology (GO) - Molecular Function for KRT6C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KRT6C: view

Phenotypes for KRT6C Gene

GenomeRNAi human phenotypes for KRT6C:
genes like me logo Genes that share phenotypes with KRT6C: view

miRNA for KRT6C Gene

miRTarBase miRNAs that target KRT6C

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for KRT6C Gene

Localization for KRT6C Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRT6C Gene COMPARTMENTS Subcellular localization image for KRT6C gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for KRT6C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005882 intermediate filament NAS 9054461
GO:0045095 keratin filament IEA --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with KRT6C: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRT6C Gene

Pathways for KRT6C Gene

genes like me logo Genes that share pathways with KRT6C: view

Pathways by source for KRT6C Gene

1 Cell Signaling Technology pathway for KRT6C Gene
1 GeneGo (Thomson Reuters) pathway for KRT6C Gene

Gene Ontology (GO) - Biological Process for KRT6C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045104 intermediate filament cytoskeleton organization IMP 23662636
genes like me logo Genes that share ontologies with KRT6C: view

Transcripts for KRT6C Gene

mRNA/cDNA for KRT6C Gene

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

Unigene Clusters for KRT6C Gene

Keratin 6C:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KRT6C

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for KRT6C
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRT6C Gene

No ASD Table

Relevant External Links for KRT6C Gene

GeneLoc Exon Structure for
KRT6C
ECgene alternative splicing isoforms for
KRT6C

Expression for KRT6C Gene

mRNA expression in normal human tissues for KRT6C Gene

mRNA differential expression in normal tissues according to GTEx for KRT6C Gene

This gene is overexpressed in Esophagus - Mucosa (28.7), Vagina (9.7), Cervix - Ectocervix (7.7), and Minor Salivary Gland (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KRT6C Gene

SOURCE GeneReport for Unigene cluster for KRT6C Gene Hs.709234

mRNA Expression by UniProt/SwissProt for KRT6C Gene

P48668-K2C6C_HUMAN
Tissue specificity: Constitutively expressed in distinct types of epithelia such as those in oral mucosa, esophagus, papillae of tongue and hair follicle outer root sheath
genes like me logo Genes that share expressions with KRT6C: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for KRT6C Gene

Orthologs for KRT6C Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT6C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 36
  • 99 (a)
OneToMany
KRT6B 35
  • 98.58 (n)
  • 98.94 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 87 (a)
ManyToMany
-- 36
  • 86 (a)
ManyToMany
KRT6B 36
  • 86 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 88 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Gm5414 36
  • 69 (a)
ManyToMany
Krt6a 36
  • 87 (a)
ManyToMany
Krt6b 36
  • 86 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 73 (a)
ManyToMany
chicken
(Gallus gallus)
Aves KRT6A 36
  • 72 (a)
ManyToMany
KRT75 36
  • 66 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 67 (a)
OneToMany
Species with no ortholog for KRT6C:
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 KRT6C Gene

ENSEMBL:
Gene Tree for KRT6C (if available)
TreeFam:
Gene Tree for KRT6C (if available)

Paralogs for KRT6C Gene

genes like me logo Genes that share paralogs with KRT6C: view

Variants for KRT6C Gene

Sequence variations from dbSNP and Humsavar for KRT6C Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs2567 -- 52,468,983(-) CTATC(C/G)TCTCC utr-variant-3-prime
rs2568 -- 52,468,999(-) CGTCT(C/T)CTCAG utr-variant-3-prime
rs367087 -- 52,470,221(-) AGATG(C/T)ATTCC intron-variant
rs370354 -- 52,468,257(+) AAGTC(C/T)GAGGG downstream-variant-500B
rs372790 -- 52,468,741(+) AAGGA(A/G)CAGAG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for KRT6C Gene

Variant ID Type Subtype PubMed ID
nsv832410 CNV Gain 17160897
nsv832411 CNV Loss 17160897
nsv832412 CNV Loss 17160897
esv2751106 CNV Loss 17911159
nsv899090 CNV Loss 21882294
nsv899091 CNV Gain 21882294
esv7827 CNV Loss 19470904
esv2745892 CNV Deletion 23290073
esv2660079 CNV Deletion 23128226
dgv95n21 CNV Loss 19592680

Relevant External Links for KRT6C Gene

HapMap Linkage Disequilibrium report
KRT6C
Human Gene Mutation Database (HGMD)
KRT6C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT6C Gene

Disorders for KRT6C Gene

(1) OMIM Diseases for KRT6C Gene (612315)

UniProtKB/Swiss-Prot

K2C6C_HUMAN
  • Palmoplantar keratoderma, non-epidermolytic, focal or diffuse (PPKNEFD) [MIM:615735]: A dermatological disorder characterized by non-epidermolytic abnormal thickening of the skin on the palms and soles. Diffuse palmoplantar keratoderma is characterized by uniform involvement of the palmoplantar surface, while the focal form consists of localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. {ECO:0000269 PubMed:19609311, ECO:0000269 PubMed:21801157, ECO:0000269 PubMed:23662636}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with KRT6C: view

Publications for KRT6C Gene

  1. Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms. (PMID: 7543104) Takahashi K. … Coulombe P.A. (J. Biol. Chem. 1995) 2 3 4
  2. Phosphorylation of human keratin 8 in vivo at conserved head domain serine 23 and at epidermal growth factor-stimulated tail domain serine 431. (PMID: 9054461) Ku N.-O. … Omary M.B. (J. Biol. Chem. 1997) 3 4
  3. Genes for intermediate filament proteins and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18. (PMID: 11683385) Hesse M. … Weber K. (J. Cell Sci. 2001) 3 4
  4. Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma. (PMID: 23662636) Kubo A. … Amagai M. (J. Dermatol. 2013) 3 4
  5. Keratin K6c mutations cause focal palmoplantar keratoderma. (PMID: 19609311) Wilson N.J. … Smith F.J. (J. Invest. Dermatol. 2010) 3 4

Products for KRT6C Gene

Sources for KRT6C Gene

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