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    KRT2 keratin 2 [ Homo sapiens (human) ]

    Gene ID: 3849, updated on 9-Dec-2024

    Summary

    Official Symbol
    KRT2provided by HGNC
    Official Full Name
    keratin 2provided by HGNC
    Primary source
    HGNC:HGNC:6439
    See related
    Ensembl:ENSG00000172867 MIM:600194; AllianceGenome:HGNC:6439
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    K2e; KRTE; CK-2e; KRT2A; KRT2E
    Summary
    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. This type II cytokeratin is expressed largely in the upper spinous layer of epidermal keratinocytes and mutations in this gene have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward skin (RPKM 1015.4) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KRT2 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (52644558..52652211, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52609117..52616770, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53038342..53045995, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene KRT73 antisense RNA 1 Neighboring gene keratin 73 Neighboring gene keratin 128, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53068684-53069184 Neighboring gene keratin 1 Neighboring gene keratin 77 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29208

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC116967, MGC116968

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytoskeletal protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    enables structural constituent of skin epidermis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables structural constituent of skin epidermis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in epidermis development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in intermediate filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in keratinization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in keratinization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in keratinocyte activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in keratinocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in keratinocyte migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in keratinocyte proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in peptide cross-linking IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of epidermis development ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    keratin, type II cytoskeletal 2 epidermal
    Names
    cytokeratin-2e
    epithelial keratin-2e
    keratin 2, type II
    keratin-2 epidermis
    keratin-2e
    type-II keratin Kb2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008296.1 RefSeqGene

      Range
      4965..12618
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000423.3NP_000414.2  keratin, type II cytoskeletal 2 epidermal

      See identical proteins and their annotated locations for NP_000414.2

      Status: VALIDATED

      Source sequence(s)
      AC055716, AL598277, BC096294, M99061
      Consensus CDS
      CCDS8835.1
      UniProtKB/Swiss-Prot
      P35908, Q4VAQ2
      Related
      ENSP00000310861.3, ENST00000309680.4
      Conserved Domains (2) summary
      pfam00038
      Location:177490
      Filament; Intermediate filament protein
      pfam16208
      Location:150174
      Keratin_2_head; Keratin type II head

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      52644558..52652211 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      52609117..52616770 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)