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KRT82 keratin 82 [ Homo sapiens (human) ]

Gene ID: 3888, updated on 7-Apr-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
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Genomic context

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Location:
12q13.13
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (52393931..52406335, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52357844..52370247, complement)
105.20220307 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 (17) 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)

Genotypes

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 biological_process ND
No biological Data available
more info
  
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_2023_10

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

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