Atlas of Genetics and Cytogenetics in Oncology and Haematology

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KRT2 (keratin 2)

Identity

Alias_namesKRT2A
keratin 2A (epidermal ichthyosis bullosa of Siemens)
keratin 2, type II
Alias_symbol (synonym)KRTE
Other aliasCK-2e
K2e
KRT2E
HGNC (Hugo) KRT2
LocusID (NCBI) 3849
Atlas_Id 56215
Location 12q13.13  [Link to chromosome band 12q13]
Location_base_pair Starts at 52644558 and ends at 52652175 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)

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

 

External links

Nomenclature
HGNC (Hugo)KRT2   6439
Cards
Entrez_Gene (NCBI)KRT2  3849  keratin 2
AliasesCK-2e; K2e; KRT2A; KRT2E; 
KRTE
GeneCards (Weizmann)KRT2
Ensembl hg19 (Hinxton)ENSG00000172867 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172867 [Gene_View]  ENSG00000172867 [Sequence]  chr12:52644558-52652175 [Contig_View]  KRT2 [Vega]
ICGC DataPortalENSG00000172867
TCGA cBioPortalKRT2
AceView (NCBI)KRT2
Genatlas (Paris)KRT2
WikiGenes3849
SOURCE (Princeton)KRT2
Genetics Home Reference (NIH)KRT2
Genomic and cartography
GoldenPath hg38 (UCSC)KRT2  -     chr12:52644558-52652175 -  12q13.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KRT2  -     12q13.13   [Description]    (hg19-Feb_2009)
EnsemblKRT2 - 12q13.13 [CytoView hg19]  KRT2 - 12q13.13 [CytoView hg38]
Mapping of homologs : NCBIKRT2 [Mapview hg19]  KRT2 [Mapview hg38]
OMIM146800   600194   
Gene and transcription
Genbank (Entrez)AL598277 BC096294 BC099643 BC099644 M99061
RefSeq transcript (Entrez)NM_000423
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KRT2
Cluster EST : UnigeneHs.707 [ NCBI ]
CGAP (NCI)Hs.707
Alternative Splicing GalleryENSG00000172867
Gene ExpressionKRT2 [ NCBI-GEO ]   KRT2 [ EBI - ARRAY_EXPRESS ]   KRT2 [ SEEK ]   KRT2 [ MEM ]
Gene Expression Viewer (FireBrowse)KRT2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3849
GTEX Portal (Tissue expression)KRT2
Human Protein AtlasENSG00000172867-KRT2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35908   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35908  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35908
Splice isoforms : SwissVarP35908
PhosPhoSitePlusP35908
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)KRT2
DMDM Disease mutations3849
Blocks (Seattle)KRT2
SuperfamilyP35908
Human Protein Atlas [tissue]ENSG00000172867-KRT2 [tissue]
Peptide AtlasP35908
HPRD02560
IPIIPI00021304   
Protein Interaction databases
DIP (DOE-UCLA)P35908
IntAct (EBI)P35908
FunCoupENSG00000172867
BioGRIDKRT2
STRING (EMBL)KRT2
ZODIACKRT2
Ontologies - Pathways
QuickGOP35908
Ontology : AmiGOcornified envelope  keratinocyte development  structural constituent of cytoskeleton  protein binding  extracellular space  nucleus  cytosol  intermediate filament  cytoskeletal protein binding  epidermis development  membrane  peptide cross-linking  structural constituent of epidermis  keratinization  keratinization  keratinocyte activation  keratinocyte proliferation  keratin filament  intermediate filament organization  positive regulation of epidermis development  keratinocyte migration  extracellular exosome  cornification  
Ontology : EGO-EBIcornified envelope  keratinocyte development  structural constituent of cytoskeleton  protein binding  extracellular space  nucleus  cytosol  intermediate filament  cytoskeletal protein binding  epidermis development  membrane  peptide cross-linking  structural constituent of epidermis  keratinization  keratinization  keratinocyte activation  keratinocyte proliferation  keratin filament  intermediate filament organization  positive regulation of epidermis development  keratinocyte migration  extracellular exosome  cornification  
NDEx NetworkKRT2
Atlas of Cancer Signalling NetworkKRT2
Wikipedia pathwaysKRT2
Orthology - Evolution
OrthoDB3849
GeneTree (enSembl)ENSG00000172867
Phylogenetic Trees/Animal Genes : TreeFamKRT2
HOVERGENP35908
HOGENOMP35908
Homologs : HomoloGeneKRT2
Homology/Alignments : Family Browser (UCSC)KRT2
Gene fusions - Rearrangements
Fusion : QuiverKRT2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKRT2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KRT2
dbVarKRT2
ClinVarKRT2
1000_GenomesKRT2 
Exome Variant ServerKRT2
ExAC (Exome Aggregation Consortium)ENSG00000172867
GNOMAD BrowserENSG00000172867
Varsome BrowserKRT2
Genetic variants : HAPMAP3849
Genomic Variants (DGV)KRT2 [DGVbeta]
DECIPHERKRT2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKRT2 
Mutations
ICGC Data PortalKRT2 
TCGA Data PortalKRT2 
Broad Tumor PortalKRT2
OASIS PortalKRT2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKRT2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKRT2
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 KRT2
DgiDB (Drug Gene Interaction Database)KRT2
DoCM (Curated mutations)KRT2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KRT2 (select a term)
intoGenKRT2
Cancer3DKRT2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM146800    600194   
Orphanet2141   
DisGeNETKRT2
MedgenKRT2
Genetic Testing Registry KRT2
NextProtP35908 [Medical]
TSGene3849
GENETestsKRT2
Target ValidationKRT2
Huge Navigator KRT2 [HugePedia]
snp3D : Map Gene to Disease3849
BioCentury BCIQKRT2
ClinGenKRT2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3849
Chemical/Pharm GKB GenePA30227
Clinical trialKRT2
Miscellaneous
canSAR (ICR)KRT2 (select the gene name)
Probes
Litterature
PubMed66 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKRT2
EVEXKRT2
GoPubMedKRT2
iHOPKRT2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 27 11:31:13 CEST 2018
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