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Aliases for KRT6A Gene

Aliases for KRT6A Gene

  • Keratin 6A 2 3 5
  • Keratin 6A, Type II 2 3
  • Type-II Keratin Kb6 3 4
  • KRT6D 3 4
  • K6A 3 4
  • Keratin, Type II Cytoskeletal 6A 3
  • Keratin, Type II Cytoskeletal 6C 3
  • Keratin, Epidermal Type II, K6A 3
  • Keratin 6A, , Type II 3
  • Allergen Hom S 5 4
  • Cytokeratin 6A 3
  • Cytokeratin 6C 3
  • Cytokeratin 6D 3
  • Cytokeratin-6A 4
  • Cytokeratin-6D 4
  • Keratin 6C 2
  • Keratin 6D 2
  • Keratin-6A 4
  • CK-6C 3
  • CK-6E 3
  • KRT6C 3
  • CK-6A 4
  • CK-6D 4
  • CK6A 3
  • CK6C 3
  • CK6D 3
  • PC3 3
  • K6C 3
  • K6D 3

External Ids for KRT6A Gene

Previous HGNC Symbols for KRT6A Gene

  • KRT6C
  • KRT6D

Previous GeneCards Identifiers for KRT6A Gene

  • GC12M053016
  • GC12M052871
  • GC12M052598
  • GC12M051168
  • GC12M051170
  • GC12M051173
  • GC12M051176
  • GC12M052880
  • GC12M049927

Summaries for KRT6A Gene

Entrez Gene Summary for KRT6A 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. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. This KRT6 gene in particular encodes the most abundant isoform. Mutations in these genes have been associated with pachyonychia congenita. In addition, peptides from the C-terminal region of the protein have antimicrobial activity against bacterial pathogens. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Oct 2014]

GeneCards Summary for KRT6A Gene

KRT6A (Keratin 6A) is a Protein Coding gene. Diseases associated with KRT6A include Pachyonychia Congenita 3 and Pachyonychia Congenita 1. Among its related pathways are Ectoderm Differentiation and Keratinization. Gene Ontology (GO) annotations related to this gene include structural molecule activity and structural constituent of cytoskeleton. An important paralog of this gene is KRT6C.

UniProtKB/Swiss-Prot for KRT6A Gene

  • Epidermis-specific type I keratin involved in wound healing. Involved in the activation of follicular keratinocytes after wounding, while it does not play a major role in keratinocyte proliferation or migration. Participates in the regulation of epithelial migration by inhibiting the activity of SRC during wound repair.

Gene Wiki entry for KRT6A Gene

Additional gene information for KRT6A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT6A Gene

Genomics for KRT6A Gene

GeneHancer (GH) Regulatory Elements for KRT6A Gene

Promoters and enhancers for KRT6A 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
GH12I052491 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 563.5 -1.2 -1160 6.4 CTCF STAT1 KLF17 CEBPB SIN3A EBF1 ZIC2 SP1 JUND GLIS1 KRT6A KRT6C KRT5 KRT71 KRT82 KRT84 KRT87P KRT86 KRT2 KRT78
GH12I052451 Promoter/Enhancer 0.9 EPDnew ENCODE dbSUPER 550.3 +40.5 40511 2 KRT6B KRT6A KRT6C PFDN5 GC12M052334 GC12M052373
GH12I052515 Promoter/Enhancer 1.8 EPDnew FANTOM5 ENCODE dbSUPER 17.5 -27.6 -27647 11.4 PKNOX1 ZNF133 GLIS2 SCRT2 RCOR1 FOS DEK ZNF398 MAFF GLIS1 KRT5 GC12M052518 KRT6A KRT6C KRT71 KRT74 KRT84 KRT2 KRT4 KRT82
GH12I052143 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 5.1 +342.8 342794 14.9 HDGF PKNOX1 CLOCK NEUROD1 SIN3A YBX1 ZBTB7B BRCA1 GLIS2 ELK1 HNRNPA3P10 EIF4B KRT7-AS KRT5 ENSG00000257989 KRT7 KRT6A OR7E47P IGFBP6 KRT6C
GH12I052513 Enhancer 0.8 ENCODE dbSUPER 10.7 -20.6 -20569 1.2 ZNF639 CEBPB MAFG BACH1 CEBPG ZNF316 ATF4 NFE2 EMSY KRT6A KRT71 KRT6C KRT5 ENSG00000259884 GC12M052518
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KRT6A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KRT6A gene promoter:

Genomic Locations for KRT6A Gene

Genomic Locations for KRT6A Gene
chr12:52,487,174-52,493,397
(GRCh38/hg38)
Size:
6,224 bases
Orientation:
Minus strand
chr12:52,880,958-52,887,181
(GRCh37/hg19)

Genomic View for KRT6A Gene

Genes around KRT6A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT6A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT6A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT6A Gene

Proteins for KRT6A Gene

  • Protein details for KRT6A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02538-K2C6A_HUMAN
    Recommended name:
    Keratin, type II cytoskeletal 6A
    Protein Accession:
    P02538
    Secondary Accessions:
    • A4QPC1
    • P48667
    • Q08AR4
    • Q6NT67
    • Q96CL4

    Protein attributes for KRT6A Gene

    Size:
    564 amino acids
    Molecular mass:
    60045 Da
    Quaternary structure:
    • Heterodimer of a type I and a type II keratin. KRT6 isomers associate with KRT16 and/or KRT17 (By similarity). Interacts with TCHP (PubMed:15731013).
    Miscellaneous:
    • There are at least six isoforms of human type II keratin-6 (K6), K6A being the most abundant representing about 77% of all forms found in epithelia.
    • There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

    Three dimensional structures from OCA and Proteopedia for KRT6A Gene

neXtProt entry for KRT6A Gene

Post-translational modifications for KRT6A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT6A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT6A Gene

Domains & Families for KRT6A Gene

Gene Families for KRT6A Gene

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

Suggested Antigen Peptide Sequences for KRT6A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P02538

UniProtKB/Swiss-Prot:

K2C6A_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT6A: view

Function for KRT6A Gene

Molecular function for KRT6A Gene

GENATLAS Biochemistry:
keratin 6A,type II,upper outer hair root sheat,nail bed,palm and sole skin,suprabasal orogenital mucosal keratinocytes,dimerizing with KRT16
UniProtKB/Swiss-Prot Function:
Epidermis-specific type I keratin involved in wound healing. Involved in the activation of follicular keratinocytes after wounding, while it does not play a major role in keratinocyte proliferation or migration. Participates in the regulation of epithelial migration by inhibiting the activity of SRC during wound repair.

Phenotypes From GWAS Catalog for KRT6A Gene

Gene Ontology (GO) - Molecular Function for KRT6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005200 structural constituent of cytoskeleton NAS --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KRT6A: view
genes like me logo Genes that share phenotypes with KRT6A: view

Human Phenotype Ontology for KRT6A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRT6A Gene

Localization for KRT6A 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 KRT6A gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
cytoskeleton 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KRT6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament NAS,IEA 9054461
GO:0016020 membrane IDA --
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRT6A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRT6A Gene

Pathways & Interactions for KRT6A Gene

genes like me logo Genes that share pathways with KRT6A: view

Pathways by source for KRT6A Gene

1 BioSystems pathway for KRT6A Gene
2 Reactome pathways for KRT6A Gene
1 GeneGo (Thomson Reuters) pathway for KRT6A Gene
1 Cell Signaling Technology pathway for KRT6A Gene

Gene Ontology (GO) - Biological Process for KRT6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002009 morphogenesis of an epithelium ISS --
GO:0007010 cytoskeleton organization IEA --
GO:0008284 positive regulation of cell proliferation NAS --
GO:0030154 cell differentiation NAS --
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRT6A: view

No data available for SIGNOR curated interactions for KRT6A Gene

Drugs & Compounds for KRT6A Gene

(3) Drugs for KRT6A Gene - From: DrugBank, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma Target 2430
TD101 Pharma 0
genes like me logo Genes that share compounds with KRT6A: view

Transcripts for KRT6A Gene

Unigene Clusters for KRT6A Gene

Keratin 6A:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRT6A Gene

No ASD Table

Relevant External Links for KRT6A Gene

GeneLoc Exon Structure for
KRT6A
ECgene alternative splicing isoforms for
KRT6A

Expression for KRT6A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRT6A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT6A Gene

This gene is overexpressed in Esophagus - Mucosa (x24.1), Vagina (x14.0), and Cervix - Ectocervix (x8.1).

Protein differential expression in normal tissues from HIPED for KRT6A Gene

This gene is overexpressed in Saliva (26.9) and Urinary Bladder (24.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KRT6A Gene



NURSA nuclear receptor signaling pathways regulating expression of KRT6A Gene:

KRT6A

SOURCE GeneReport for Unigene cluster for KRT6A Gene:

Hs.700779

mRNA Expression by UniProt/SwissProt for KRT6A Gene:

P02538-K2C6A_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.

Evidence on tissue expression from TISSUES for KRT6A Gene

  • Skin(4.9)
  • Nervous system(4.9)
  • Pancreas(4.5)
  • Liver(4.3)
  • Lung(3.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT6A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • scalp
  • skull
  • tongue
  • tooth
  • vocal cord
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • hair
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with KRT6A: view

No data available for Protein tissue co-expression partners for KRT6A Gene

Orthologs for KRT6A Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT6A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRT6A 34 33
  • 99.35 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 34
  • 89 (a)
OneToMany
KRT6B 33
  • 86.29 (n)
mouse
(Mus musculus)
Mammalia Krt6a 34
  • 88 (a)
ManyToMany
Krt6b 34
  • 86 (a)
ManyToMany
Gm5414 34
  • 70 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 87 (a)
ManyToMany
-- 34
  • 87 (a)
ManyToMany
KRT6B 34
  • 87 (a)
ManyToMany
KRT6C 33
  • 85.77 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 74 (a)
ManyToMany
chicken
(Gallus gallus)
Aves KRT6A 34
  • 73 (a)
ManyToMany
KRT3 33
  • 71.91 (n)
KRT75 34
  • 67 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 68 (a)
OneToMany
Species where no ortholog for KRT6A 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)
  • 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 KRT6A Gene

ENSEMBL:
Gene Tree for KRT6A (if available)
TreeFam:
Gene Tree for KRT6A (if available)

Paralogs for KRT6A Gene

Paralogs for KRT6A Gene

genes like me logo Genes that share paralogs with KRT6A: view

Variants for KRT6A Gene

Sequence variations from dbSNP and Humsavar for KRT6A Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs113369052 pathogenic, PC-K6a 52,487,957(-) T/A/G splice_acceptor_variant
rs267607460 not-provided, not provided, Pachyonychia congenita 3 (PC3) [MIM:615726] 52,492,692(-) T/C/G coding_sequence_variant, missense_variant
rs267607461 not-provided, not provided, Pachyonychia congenita 3 (PC3) [MIM:615726] 52,492,656(-) A/T coding_sequence_variant, missense_variant
rs267607462 pathogenic, not provided, Pachyonychia congenita 3 (PC3) [MIM:615726] 52,488,365(-) C/G/T coding_sequence_variant, missense_variant
rs267607463 pathogenic, not provided, Pachyonychia congenita 3 (PC3) [MIM:615726] 52,488,359(-) A/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for KRT6A Gene

Variant ID Type Subtype PubMed ID
dgv1505n100 CNV loss 25217958
dgv95n21 CNV loss 19592680
esv2660079 CNV deletion 23128226
esv2745892 CNV deletion 23290073
esv3581627 CNV gain 25503493
nsv1035936 CNV gain 25217958
nsv832410 CNV gain 17160897
nsv832411 CNV loss 17160897
nsv832412 CNV loss 17160897
nsv832413 CNV loss 17160897
nsv973066 CNV duplication 23825009

Variation tolerance for KRT6A Gene

Residual Variation Intolerance Score: 96.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.98; 89.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRT6A Gene

Human Gene Mutation Database (HGMD)
KRT6A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT6A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT6A Gene

Disorders for KRT6A Gene

MalaCards: The human disease database

(11) MalaCards diseases for KRT6A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pachyonychia congenita 3
  • pc3
pachyonychia congenita 1
  • pc1
fissured tongue
  • congenital fissure of tongue
median rhomboid glossitis
  • persistent tuberculum impar
glossitis
- elite association - COSMIC cancer census association via MalaCards
Search KRT6A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

K2C6A_HUMAN
  • Pachyonychia congenita 3 (PC3) [MIM:615726]: An autosomal dominant genodermatosis characterized by hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. {ECO:0000269 PubMed:10232400, ECO:0000269 PubMed:11886499, ECO:0000269 PubMed:15387942, ECO:0000269 PubMed:15840119, ECO:0000269 PubMed:16250206, ECO:0000269 PubMed:17309457, ECO:0000269 PubMed:17719747, ECO:0000269 PubMed:18489596, ECO:0000269 PubMed:19416275, ECO:0000269 PubMed:21326300, ECO:0000269 PubMed:22668561, ECO:0000269 PubMed:7545493}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KRT6A

genes like me logo Genes that share disorders with KRT6A: view

No data available for Genatlas for KRT6A Gene

Publications for KRT6A Gene

  1. Novel and recurrent keratin 6A (KRT6A) mutations in Chinese patients with pachyonychia congenita type 1. (PMID: 19416275) Lv YM … Zhang XJ (The British journal of dermatology 2009) 3 4 22 58
  2. A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. (PMID: 17719747) Liao H … Smith FJ (Journal of dermatological science 2007) 3 4 22 58
  3. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. (PMID: 11886499) Terrinoni A … McLean WH (The Journal of investigative dermatology 2001) 3 4 22 58
  4. Mutation of a type II keratin gene (K6a) in pachyonychia congenita. (PMID: 7545493) Bowden PE … Turner RJ (Nature genetics 1995) 3 4 22 58
  5. Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12. (PMID: 1713141) Rosenberg M … Shows TB (Cytogenetics and cell genetics 1991) 2 3 22 58

Products for KRT6A Gene

Sources for KRT6A Gene

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