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    KRT2 keratin 2 [ Homo sapiens (human) ]

    Gene ID: 3849, updated on 5-Jan-2025

    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
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    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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    General gene information

    Clone Names

    • MGC116967, MGC116968

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in epidermis development PubMed 
    involved_in intermediate filament organization  
    involved_in keratinization  
    involved_in keratinization PubMed 
    involved_in keratinocyte activation PubMed 
    involved_in keratinocyte development  
    involved_in keratinocyte migration PubMed 
    involved_in keratinocyte proliferation PubMed 
    involved_in peptide cross-linking PubMed 
    involved_in positive regulation of epidermis development  

    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_000423.3 → NP_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:177 → 490
      Filament; Intermediate filament protein
      pfam16208
      Location:150 → 174
      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)
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