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    KRT82 keratin 82 [ Homo sapiens (human) ]

    Gene ID: 3888, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KRT82provided by HGNC
    Official Full Name
    keratin 82provided by HGNC
    Primary source
    HGNC:HGNC:6459
    See related
    Ensembl:ENSG00000161850 MIM:601078; AllianceGenome:HGNC:6459
    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
    HB2; Hb-2; KRTHB2
    Summary
    The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this keratin appears to be a hair cuticle-specific keratin. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See KRT82 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 (52393931..52406335, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52357844..52370247, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52787715..52800119, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 85 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52763817-52764316 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_28991 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_28997 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_28998 Neighboring gene keratin 84 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52789485-52789986 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29013 Neighboring gene keratin 90, pseudogene Neighboring gene keratin 75

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82. Erjavec SO, et al. Nat Commun, 2022 Feb 10. PMID 35145093, Free PMC Article
    2. The complement of native alpha-keratin polypeptides of hair-forming cells: a subset of eight polypeptides that differ from epithelial cytokeratins. Heid HW, et al. Differentiation, 1986. PMID 2431943
    3. Complete Structure of an Epithelial Keratin Dimer: Implications for Intermediate Filament Assembly. Bray DJ, et al. PLoS One, 2015. PMID 26181054, Free PMC Article
    4. Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q13.13. Rogers MA, et al. J Invest Dermatol, 2005 Mar. PMID 15737194
    5. Characterization of a 300 kbp region of human DNA containing the type II hair keratin gene domain. Rogers MA, et al. J Invest Dermatol, 2000 Mar. PMID 10692104

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82.
      Title: Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of skin epidermis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of skin epidermis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in keratin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in keratin filament IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in keratin filament NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    keratin, type II cuticular Hb2
    Names
    K82
    hard keratin, type II, 2
    keratin 82, type II
    keratin, hair, basic, 2
    type II hair keratin Hb2
    type-II keratin Kb22

    NCBI Reference Sequences (RefSeq)

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    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_012298.1 RefSeqGene

      Range
      5058..17462
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_033033.4 → NP_149022.3  keratin, type II cuticular Hb2

      See identical proteins and their annotated locations for NP_149022.3

      Status: REVIEWED

      Source sequence(s)
      AC078865
      Consensus CDS
      CCDS8826.1
      UniProtKB/Swiss-Prot
      Q9NSB4
      UniProtKB/TrEMBL
      Q701L7
      Related
      ENSP00000257974.3, ENST00000257974.3
      Conserved Domains (3) summary
      pfam00038
      Location:120 → 430
      Filament; Intermediate filament protein
      pfam16208
      Location:61 → 116
      Keratin_2_head; Keratin type II head
      cl12057
      Location:327 → 396
      Seryl_tRNA_N; Seryl-tRNA synthetase N-terminal domain

    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
      52393931..52406335 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      52357844..52370247 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NSB4.3 GenPept UniProtKB/Swiss-Prot:Q9NSB4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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