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Aliases for KRT86 Gene

Aliases for KRT86 Gene

  • Keratin 86, Type II 2 3
  • Keratin, Hair, Basic, 6 (Monilethrix) 2 3
  • Type II Hair Keratin Hb6 3 4
  • Type-II Keratin Kb26 3 4
  • Hair Keratin K2.11 3 4
  • Keratin-86 3 4
  • KRTHB6 3 4
  • K86 3 4
  • Hard Keratin, Type II, 6 3
  • Hard Keratin Type II 6 2
  • Keratin Protein HB6 3
  • Keratin 86 2
  • KRTHB1 3
  • HHb6 3
  • HB6 3
  • Hb1 3
  • MNX 3

External Ids for KRT86 Gene

Previous HGNC Symbols for KRT86 Gene

  • KRTHB6

Previous GeneCards Identifiers for KRT86 Gene

  • GC12P050982
  • GC12P052695
  • GC12P049730
  • GC12P052643
  • GC12P052668

Summaries for KRT86 Gene

Entrez Gene Summary for KRT86 Gene

  • 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 hair keratin, as well as KRTHB1 and KRTHB3, is found primarily in the hair cortex. Mutations in this gene and KRTHB1 have been observed in patients with a rare dominant hair disease, monilethrix. [provided by RefSeq, Jul 2008]

GeneCards Summary for KRT86 Gene

KRT86 (Keratin 86, Type II) is a Protein Coding gene. Diseases associated with KRT86 include monilethrix and hair disease. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT82.

Gene Wiki entry for KRT86 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT86 Gene

Genomics for KRT86 Gene

Regulatory Elements for KRT86 Gene

Genomic Location for KRT86 Gene

Chromosome:
12
Start:
52,249,300 bp from pter
End:
52,309,163 bp from pter
Size:
59,864 bases
Orientation:
Plus strand

Genomic View for KRT86 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KRT86 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT86 Gene

Proteins for KRT86 Gene

  • Protein details for KRT86 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43790-KRT86_HUMAN
    Recommended name:
    Keratin, type II cuticular Hb6
    Protein Accession:
    O43790
    Secondary Accessions:
    • P78387

    Protein attributes for KRT86 Gene

    Size:
    486 amino acids
    Molecular mass:
    53501 Da
    Quaternary structure:
    • Heterotetramer of two type I and two type II keratins
    Miscellaneous:
    • There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic)

neXtProt entry for KRT86 Gene

Proteomics data for KRT86 Gene at MOPED

Post-translational modifications for KRT86 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT86 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT86 Gene

Domains & Families for KRT86 Gene

Gene Families for KRT86 Gene

Protein Domains for KRT86 Gene

Graphical View of Domain Structure for InterPro Entry

O43790

UniProtKB/Swiss-Prot:

KRT86_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT86: view

Function for KRT86 Gene

Gene Ontology (GO) - Molecular Function for KRT86 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KRT86: view
genes like me logo Genes that share phenotypes with KRT86: view

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KRT86

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRT86 Gene

Localization for KRT86 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRT86 Gene COMPARTMENTS Subcellular localization image for KRT86 gene
Compartment Confidence
extracellular 5
cytoskeleton 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for KRT86 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 23580065
GO:0005882 intermediate filament --
GO:0045095 keratin filament IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with KRT86: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRT86 Gene

Pathways & Interactions for KRT86 Gene

SuperPathways for KRT86 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KRT86 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KRT86 Gene

Drugs & Compounds for KRT86 Gene

(1) Drugs for KRT86 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
lysine Nutra 70

(1) Additional Compounds for KRT86 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
glutamate
genes like me logo Genes that share compounds with KRT86: view

Transcripts for KRT86 Gene

Unigene Clusters for KRT86 Gene

Keratin 86:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KRT86

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRT86 Gene

No ASD Table

Relevant External Links for KRT86 Gene

GeneLoc Exon Structure for
KRT86
ECgene alternative splicing isoforms for
KRT86

Expression for KRT86 Gene

mRNA expression in normal human tissues for KRT86 Gene

mRNA differential expression in normal tissues according to GTEx for KRT86 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x43.9) and Skin - Sun Exposed (Lower leg) (x5.1).

Protein differential expression in normal tissues from HIPED for KRT86 Gene

This gene is overexpressed in Heart (22.3), Kidney (16.7), Urine (13.2), and Plasma (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KRT86 Gene



SOURCE GeneReport for Unigene cluster for KRT86 Gene Hs.278658

mRNA Expression by UniProt/SwissProt for KRT86 Gene

O43790-KRT86_HUMAN
Tissue specificity: Synthesis begins slightly higher in the hair shaft than HB1 and HB3 and continues much farther up, ending in the keratogeneous zone.
genes like me logo Genes that share expression patterns with KRT86: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for KRT86 Gene

Orthologs for KRT86 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRT86 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KRT86 35
  • 89.09 (n)
  • 88.48 (a)
KRT86 36
  • 87 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia KRT86 35
  • 91.27 (n)
  • 89.69 (a)
-- 36
  • 72 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Krt86 35
  • 87.17 (n)
  • 87.24 (a)
Krt86 16
Krt86 36
  • 86 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia KRT86 35
  • 98.9 (n)
  • 99.38 (a)
KRT86 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Krt86 35
  • 87.79 (n)
  • 88.27 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 80 (a)
ManyToMany
-- 36
  • 83 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 79 (a)
ManyToMany
-- 36
  • 82 (a)
ManyToMany
-- 36
  • 78 (a)
ManyToMany
-- 36
  • 78 (a)
ManyToMany
Species with no ortholog for KRT86:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KRT86 Gene

ENSEMBL:
Gene Tree for KRT86 (if available)
TreeFam:
Gene Tree for KRT86 (if available)

Paralogs for KRT86 Gene

Pseudogenes.org Pseudogenes for KRT86 Gene

genes like me logo Genes that share paralogs with KRT86: view

Variants for KRT86 Gene

Sequence variations from dbSNP and Humsavar for KRT86 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs715874 -- 52,276,792(-) GTGGG(G/T)TAAGA intron-variant
rs949390 -- 52,281,250(+) CTTCT(C/T)AGCAG intron-variant
rs949391 -- 52,281,314(+) TCCGT(C/T)GTATT intron-variant
rs1894034 -- 52,281,914(+) AAAAA(A/C)AAGTT intron-variant
rs1945300 -- 52,273,136(+) GACAC(A/G)CTTTT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KRT86 Gene

Variant ID Type Subtype PubMed ID
dgv511e1 CNV Complex 17122850
nsv899087 CNV Loss 21882294
nsv7230 OTHER Inversion 18451855
nsv899088 CNV Loss 21882294
nsv899089 CNV Loss 21882294
essv22726 CNV CNV 17122850
dgv70e55 CNV Gain 17911159
nsv516938 CNV Gain+Loss 19592680
esv29967 CNV Gain 17803354
esv27319 CNV Gain+Loss 19812545
dgv29e180 CNV Gain 20482838
nsv818917 CNV Gain 17921354
dgv200n27 CNV Gain 19166990
nsv826378 CNV Loss 20364138

Variation tolerance for KRT86 Gene

Residual Variation Intolerance Score: 68.56% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.88; 59.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRT86 Gene

HapMap Linkage Disequilibrium report
KRT86
Human Gene Mutation Database (HGMD)
KRT86

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT86 Gene

Disorders for KRT86 Gene

MalaCards: The human disease database

(5) MalaCards diseases for KRT86 Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
monilethrix
  • nodose hair
hair disease
  • hair disorder
white sponge nevus 1
  • hereditary mucosal leukokeratosis
alopecia
hypotrichosis
- elite association
Search KRT86 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KRT86_HUMAN
  • Monilethrix (MNLIX) [MIM:158000]: A disorder clinically characterized by alopecia and follicular papules. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected. {ECO:0000269 PubMed:10469314, ECO:0000269 PubMed:10504448, ECO:0000269 PubMed:10594761, ECO:0000269 PubMed:25557232, ECO:0000269 PubMed:9402962}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KRT86

Genetic Association Database (GAD)
KRT86
Human Genome Epidemiology (HuGE) Navigator
KRT86
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRT86
genes like me logo Genes that share disorders with KRT86: view

No data available for Genatlas for KRT86 Gene

Publications for KRT86 Gene

  1. Aberrant heterodimerization of keratin 16 with keratin 6A in HaCaT keratinocytes results in diminished cellular migration. (PMID: 20403371) Trost A. … Onder K. (Mech. Ageing Dev. 2010) 23 67
  2. [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix]. (PMID: 18393232) Feng A.P. … Yang T. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008) 23 67
  3. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J. … Wright M.W. (J. Cell Biol. 2006) 2 67
  4. Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. (PMID: 16439973) Shimomura Y. … Ito M. (J. Invest. Dermatol. 2006) 23 67
  5. STS gene in a pedigree with X-linked ichthyosis. (PMID: 16196306) Liu A. … Liu Y. (J. Huazhong Univ. Sci. Technol. Med. Sci. 2005) 23 67

Products for KRT86 Gene

Sources for KRT86 Gene

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