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    KRT8 keratin 8 [ Homo sapiens (human) ]

    Gene ID: 3856, updated on 3-Nov-2024

    Summary

    Official Symbol
    KRT8provided by HGNC
    Official Full Name
    keratin 8provided by HGNC
    Primary source
    HGNC:HGNC:6446
    See related
    Ensembl:ENSG00000170421 MIM:148060; AllianceGenome:HGNC:6446
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    K8; KO; CK8; CK-8; CYK8; K2C8; CARD2
    Summary
    This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
    Expression
    Biased expression in colon (RPKM 581.2), small intestine (RPKM 486.1) and 13 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See KRT8 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (52897191..52949860, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52861778..52914419, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53290975..53343644, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:53230567-53231766 Neighboring gene keratin 78 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53263818-53264318 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53264319-53264819 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4485 Neighboring gene Sharpr-MPRA regulatory region 10657 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:53287796-53287974 Neighboring gene Sharpr-MPRA regulatory region 10212 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53292699-53293198 Neighboring gene ribosomal protein L7 pseudogene 41 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53295217-53296061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4486 Neighboring gene microRNA 9898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53311823-53312324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53312325-53312824 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53337539-53338133 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:53339323-53339918 Neighboring gene Sharpr-MPRA regulatory region 15494 Neighboring gene KRT18 locus control region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53358683-53359326 Neighboring gene keratin 18 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53365007-53365934 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53365935-53366860 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:53397033-53397195 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53399611-53400354 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53400355-53401098 Neighboring gene eukaryotic translation initiation factor 4B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6401 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53441165-53442009 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53442010-53442853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6402 Neighboring gene TNS2 antisense RNA 1 Neighboring gene tensin 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies new prostate cancer susceptibility loci.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding PubMed 
    enables protein-containing complex binding  
    enables scaffold protein binding PubMed 
    Component Evidence Code Pubs
    located_in Z disc  
    located_in apicolateral plasma membrane  
    located_in cell-cell junction  
    located_in costamere  
    located_in cytoplasm PubMed 
    located_in cytosol  
    part_of dystrophin-associated glycoprotein complex  
    located_in extracellular exosome PubMed 
    located_in intermediate filament PubMed 
    located_in intermediate filament cytoskeleton  
    located_in keratin filament PubMed 
    located_in nuclear matrix  
    located_in nucleoplasm  
    located_in nucleus PubMed 
    located_in sarcolemma  

    General protein information

    Preferred Names
    keratin, type II cytoskeletal 8
    Names
    cytokeratin-8
    keratin 8, type II
    type-II keratin Kb8

    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_008402.2 RefSeqGene

      Range
      49791..57676
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001256282.2NP_001243211.1  keratin, type II cytoskeletal 8 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK310257, BC008200
      Consensus CDS
      CCDS58234.1
      UniProtKB/TrEMBL
      Q7L4M3
      Related
      ENSP00000449404.1, ENST00000552150.5
      Conserved Domains (3) summary
      pfam00038
      Location:118429
      Filament; Intermediate filament protein
      pfam15003
      Location:315404
      HAUS2; HAUS augmin-like complex subunit 2
      pfam16208
      Location:91115
      Keratin_2_head; Keratin type II head
    2. NM_001256293.2NP_001243222.1  keratin, type II cytoskeletal 8 isoform 2

      See identical proteins and their annotated locations for NP_001243222.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' exon, which results in a downstream AUG start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same isoform 2.
      Source sequence(s)
      AK290938, AK310257, BC063513, DA051933
      Consensus CDS
      CCDS8841.1
      UniProtKB/Swiss-Prot
      A8K4H3, B0AZN5, F8VXB4, P05787, Q14099, Q14716, Q14717, Q53GJ0, Q6DHW5, Q6GMY0, Q6P4C7, Q96J60
      Related
      ENSP00000447402.1, ENST00000546897.5
      Conserved Domains (2) summary
      pfam00038
      Location:90401
      Filament; Intermediate filament protein
      pfam16208
      Location:6387
      Keratin_2_head; Keratin type II head
    3. NM_002273.4NP_002264.1  keratin, type II cytoskeletal 8 isoform 2

      See identical proteins and their annotated locations for NP_002264.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation in a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same isoform 2.
      Source sequence(s)
      BC075839, BE300986, DA825311
      Consensus CDS
      CCDS8841.1
      UniProtKB/Swiss-Prot
      A8K4H3, B0AZN5, F8VXB4, P05787, Q14099, Q14716, Q14717, Q53GJ0, Q6DHW5, Q6GMY0, Q6P4C7, Q96J60
      Related
      ENSP00000509398.1, ENST00000692008.1
      Conserved Domains (2) summary
      pfam00038
      Location:90401
      Filament; Intermediate filament protein
      pfam16208
      Location:6387
      Keratin_2_head; Keratin type II head

    RNA

    1. NR_045962.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an alternate 5' exon, compared to variant 1, that creates an upstream ORF with a strong Kozak sequence. The upstream ORF is predicted to inhibit translation of the downstream ORF and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK315826, BC011373, CX166336, DA051933

    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
      52897191..52949860 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      52861778..52914419 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372022.1XP_054227997.1  keratin, type II cytoskeletal 8 isoform X1

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