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KRT86 keratin 86 [ Homo sapiens (human) ]

Gene ID: 3892, updated on 7-Apr-2024

Summary

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Official Symbol
KRT86provided by HGNC
Official Full Name
keratin 86provided by HGNC
Primary source
HGNC:HGNC:6463
See related
Ensembl:ENSG00000170442 MIM:601928; AllianceGenome:HGNC:6463
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
HB6; Hb1; K86; MNX; KRTHB1; KRTHB6
Summary
This gene encodes a type II keratin protein, which heterodimerizes with type I keratins to form hair and nails. This gene is present in a cluster of related genes and pseudogenes on chromosome 12. Mutations in this gene have been observed in patients with the hair disease monilethrix. [provided by RefSeq, Feb 2016]
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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Location:
12q13.13
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (52274645..52309163)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52238211..52273084)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52668429..52702947)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52645720-52646220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52646221-52646721 Neighboring gene keratin 87, pseudogene Neighboring gene keratin 88, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:52673861-52675060 Neighboring gene keratin 81 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52698416-52698916 Neighboring gene uncharacterized LOC124902935 Neighboring gene keratin 83

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Identification of a novel missense KRT86 mutation in a Chinese family with monilethrix. Deng Y, et al. J Dermatol, 2018 Nov. PMID 29701253
  2. A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism. Redler S, et al. Clin Exp Dermatol, 2015 Oct. PMID 25809918
  3. Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix. Ye ZZ, et al. Chin Med J (Engl), 2013 Aug. PMID 23981620
  4. A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance. De Cruz R, et al. Br J Dermatol, 2012 Jun. PMID 22670615
  5. Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation. Feng YG, et al. J Dermatol, 2012 Sep. PMID 22568869

See all (47) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Study reported here a three-generation Chinese family with autosomal dominant monilethrix carrying a novel missense mutation c.1223G>C in KRT86.
    Title: Identification of a novel missense KRT86 mutation in a Chinese family with monilethrix.
  2. Analysis of KRT86 revealed a novel mutation, c.1231G>T;p.Glu411*, in exon 7 in the three affected children and their mother with monilethrix.
    Title: A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism.
  3. Novel mutations causing monilethrix are reported in KRT81, KRT83, and KRT86.
    Title: Novel KRT83 and KRT86 mutations associated with monilethrix.
  4. The mutation of extron 7 of KRT86 identified plays a major role in the pathogenesis of this pedigree with monilethrix.
    Title: Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix.
  5. Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation.
    Title: Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation.
  6. Results idntify a novel mutation of krt86 protein causing monilethrix located in a region other than the helix.
    Title: A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance.
  7. Mutation E402K of the hHb6 in a Chinese Han family with monilethrix.
    Title: Mutation E402K of the hHb6 in a Chinese Han family with monilethrix.
  8. The results emphasized the key role of hair keratin hHB6 in the pathogenesis of monilethrix and indicated that the common mutation of hHB6 was also a cause of monilethrix in Chinese.
    Title: [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
  9. Observational study of genotype prevalence. (HuGE Navigator)
    Title: A novel promoter polymorphism (-71C>T) in KRTHB6 gene in Indian population.
  10. The KRTHB6 expression uniformly occurred in the midcortex region.
    Title: Keratins of the human hair follicle.
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

Associated conditions

Description Tests
Beaded hair
MedGen: C0546966 OMIM: 158000 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly.
EBI GWAS Catalog

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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of keratin 86 (KRT86; KRTHB6) in peptide-treated PBMCs PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ25176

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
  
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
  
located_in extracellular space HDA PubMed 
is_active_in keratin filament IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in keratin filament IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
keratin, type II cuticular Hb6
Names
hair keratin K2.11
hard keratin, type II, 6
keratin 86, type II
keratin protein HB6
keratin, hair, basic, 6 (monilethrix)
type II hair keratin Hb6
type-II keratin Kb26

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_008086.2 RefSeqGene

    Range
    5001..39519
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001320198.2 → NP_001307127.1  keratin, type II cuticular Hb6

    Status: REVIEWED

    Source sequence(s)
    AI368926, AK292237, BC069585, BG216771, DC399862
    Consensus CDS
    CCDS41785.1
    UniProtKB/Swiss-Prot
    O43790, P78387
    UniProtKB/TrEMBL
    A8K872, B4DN72
    Related
    ENSP00000444533.1, ENST00000423955.7
    Conserved Domains (2) summary
    pfam00038
    Location:105 → 416
    Filament; Intermediate filament protein
    pfam16208
    Location:40 → 102
    Keratin_2_head; Keratin type II head

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
    52274645..52309163
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268866.5 → XP_005268923.1  keratin, type II cuticular Hb6 isoform X1

    UniProtKB/TrEMBL
    A8K872, B4DN72
    Conserved Domains (4) summary
    pfam00038
    Location:182 → 493
    Filament; Intermediate filament protein
    pfam16208
    Location:80 → 179
    Keratin_2_head; Keratin type II head
    cl09111
    Location:302 → 417
    Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
    cl23720
    Location:392 → 460
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    52238211..52273084
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372044.1 → XP_054228019.1  keratin, type II cuticular Hb6 isoform X1

  2. XM_054372045.1 → XP_054228020.1  keratin, type II cuticular Hb6 isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_002284.3: Suppressed sequence

    Description
    NM_002284.3: This RefSeq was removed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43790.1 GenPept UniProtKB/Swiss-Prot:O43790

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