Atlas of Genetics and Cytogenetics in Oncology and Haematology

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KRT6A (keratin 6A)

Identity

Alias_namesKRT6C
KRT6D
keratin 6C
keratin 6D
keratin 6A, type II
Alias_symbol (synonym)CK6C
K6C
CK6D
K6D
Other aliasCK-6C
CK-6E
CK6A
K6A
PC3
HGNC (Hugo) KRT6A
LocusID (NCBI) 3853
Atlas_Id 49748
Location 12q13.13  [Link to chromosome band 12q13]
Location_base_pair Starts at 52487174 and ends at 52493397 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
APC (5q22.2) / KRT6A (12q13.13)CPSF1 (8q24.3) / KRT6A (12q13.13)KRT6A (12q13.13) / AP2B1 (17q12)
KRT6A (12q13.13) / KRT6A (12q13.13)KRT6A (12q13.13) / TUFT1 (1q21.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(5;12)(q22;q13) APC/KRT6A

External links

Nomenclature
HGNC (Hugo)KRT6A   6443
Cards
Entrez_Gene (NCBI)KRT6A  3853  keratin 6A
AliasesCK-6C; CK-6E; CK6A; CK6C; 
CK6D; K6A; K6C; K6D; KRT6C; KRT6D; PC3
GeneCards (Weizmann)KRT6A
Ensembl hg19 (Hinxton)ENSG00000205420 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000205420 [Gene_View]  ENSG00000205420 [Sequence]  chr12:52487174-52493397 [Contig_View]  KRT6A [Vega]
ICGC DataPortalENSG00000205420
TCGA cBioPortalKRT6A
AceView (NCBI)KRT6A
Genatlas (Paris)KRT6A
WikiGenes3853
SOURCE (Princeton)KRT6A
Genetics Home Reference (NIH)KRT6A
Genomic and cartography
GoldenPath hg38 (UCSC)KRT6A  -     chr12:52487174-52493397 -  12q13.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KRT6A  -     12q13.13   [Description]    (hg19-Feb_2009)
GoldenPathKRT6A - 12q13.13 [CytoView hg19]  KRT6A - 12q13.13 [CytoView hg38]
ImmunoBaseENSG00000205420
Mapping of homologs : NCBIKRT6A [Mapview hg19]  KRT6A [Mapview hg38]
OMIM148041   615726   
Gene and transcription
Genbank (Entrez)AK290245 AK299386 AK299428 AK301686 BC008807
RefSeq transcript (Entrez)NM_005554
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KRT6A
Cluster EST : UnigeneHs.700779 [ NCBI ]
CGAP (NCI)Hs.700779
Alternative Splicing GalleryENSG00000205420
Gene ExpressionKRT6A [ NCBI-GEO ]   KRT6A [ EBI - ARRAY_EXPRESS ]   KRT6A [ SEEK ]   KRT6A [ MEM ]
Gene Expression Viewer (FireBrowse)KRT6A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3853
GTEX Portal (Tissue expression)KRT6A
Human Protein AtlasENSG00000205420-KRT6A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP02538   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP02538  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP02538
Splice isoforms : SwissVarP02538
PhosPhoSitePlusP02538
Domaine pattern : Prosite (Expaxy)IF_ROD_1 (PS00226)    IF_ROD_2 (PS51842)   
Domains : Interpro (EBI)IF    Intermediate_filament_CS    Keratin_2_head    Keratin_II   
Domain families : Pfam (Sanger)Filament (PF00038)    Keratin_2_head (PF16208)   
Domain families : Pfam (NCBI)pfam00038    pfam16208   
Domain families : Smart (EMBL)Filament (SM01391)  
Conserved Domain (NCBI)KRT6A
DMDM Disease mutations3853
Blocks (Seattle)KRT6A
PDB (RSDB)5KI0   
PDB Europe5KI0   
PDB (PDBSum)5KI0   
PDB (IMB)5KI0   
Structural Biology KnowledgeBase5KI0   
SCOP (Structural Classification of Proteins)5KI0   
CATH (Classification of proteins structures)5KI0   
SuperfamilyP02538
Human Protein Atlas [tissue]ENSG00000205420-KRT6A [tissue]
Peptide AtlasP02538
HPRD01011
IPIIPI00300725   IPI00909059   IPI00942257   
Protein Interaction databases
DIP (DOE-UCLA)P02538
IntAct (EBI)P02538
FunCoupENSG00000205420
BioGRIDKRT6A
STRING (EMBL)KRT6A
ZODIACKRT6A
Ontologies - Pathways
QuickGOP02538
Ontology : AmiGOnegative regulation of cytolysis by symbiont of host cells  morphogenesis of an epithelium  structural constituent of cytoskeleton  protein binding  nucleus  cytosol  cytoskeleton organization  positive regulation of cell proliferation  membrane  cell differentiation  keratinization  wound healing  keratin filament  defense response to Gram-positive bacterium  defense response to Gram-positive bacterium  cytolysis in other organism involved in symbiotic interaction  cytolysis in other organism involved in symbiotic interaction  antimicrobial humoral immune response mediated by antimicrobial peptide  antimicrobial humoral immune response mediated by antimicrobial peptide  extracellular exosome  cornification  negative regulation of entry of bacterium into host cell  
Ontology : EGO-EBInegative regulation of cytolysis by symbiont of host cells  morphogenesis of an epithelium  structural constituent of cytoskeleton  protein binding  nucleus  cytosol  cytoskeleton organization  positive regulation of cell proliferation  membrane  cell differentiation  keratinization  wound healing  keratin filament  defense response to Gram-positive bacterium  defense response to Gram-positive bacterium  cytolysis in other organism involved in symbiotic interaction  cytolysis in other organism involved in symbiotic interaction  antimicrobial humoral immune response mediated by antimicrobial peptide  antimicrobial humoral immune response mediated by antimicrobial peptide  extracellular exosome  cornification  negative regulation of entry of bacterium into host cell  
NDEx NetworkKRT6A
Atlas of Cancer Signalling NetworkKRT6A
Wikipedia pathwaysKRT6A
Orthology - Evolution
OrthoDB3853
GeneTree (enSembl)ENSG00000205420
Phylogenetic Trees/Animal Genes : TreeFamKRT6A
HOGENOMP02538
Homologs : HomoloGeneKRT6A
Homology/Alignments : Family Browser (UCSC)KRT6A
Gene fusions - Rearrangements
Fusion : MitelmanAPC/KRT6A [5q22.2/12q13.13]  [t(5;12)(q22;q13)]  
Fusion : QuiverKRT6A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKRT6A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KRT6A
dbVarKRT6A
ClinVarKRT6A
1000_GenomesKRT6A 
Exome Variant ServerKRT6A
ExAC (Exome Aggregation Consortium)ENSG00000205420
GNOMAD BrowserENSG00000205420
Varsome BrowserKRT6A
Genetic variants : HAPMAP3853
Genomic Variants (DGV)KRT6A [DGVbeta]
DECIPHERKRT6A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKRT6A 
Mutations
ICGC Data PortalKRT6A 
TCGA Data PortalKRT6A 
Broad Tumor PortalKRT6A
OASIS PortalKRT6A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKRT6A  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DKRT6A
Mutations and Diseases : HGMDKRT6A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KRT6A
DgiDB (Drug Gene Interaction Database)KRT6A
DoCM (Curated mutations)KRT6A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KRT6A (select a term)
intoGenKRT6A
Cancer3DKRT6A(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM148041    615726   
Orphanet2169   
DisGeNETKRT6A
MedgenKRT6A
Genetic Testing Registry KRT6A
NextProtP02538 [Medical]
TSGene3853
GENETestsKRT6A
Target ValidationKRT6A
Huge Navigator KRT6A [HugePedia]
snp3D : Map Gene to Disease3853
BioCentury BCIQKRT6A
ClinGenKRT6A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3853
Chemical/Pharm GKB GenePA30231
Clinical trialKRT6A
Miscellaneous
canSAR (ICR)KRT6A (select the gene name)
DataMed IndexKRT6A
Probes
Litterature
PubMed73 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKRT6A
EVEXKRT6A
GoPubMedKRT6A
iHOPKRT6A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 17:50:05 CET 2019
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