KRT86 (keratin 86)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3892
Gene name Gene Name - the full gene name approved by the HGNC.
Keratin 86
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KRT86
Synonyms (NCBI Gene) Gene synonyms aliases
HB6, Hb1, K86, KRTHB1, KRTHB6, MNX, NMLIX1
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.13
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs60612575 C>A,T Not-provided, pathogenic Missense variant, coding sequence variant
rs60687604 G>A,C Not-provided, pathogenic Missense variant, coding sequence variant
rs61091894 A>C,G Not-provided, pathogenic Missense variant, coding sequence variant
rs121909129 G>A Pathogenic, not-provided Coding sequence variant, missense variant
rs121909130 G>T Pathogenic, not-provided Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
miRTarBase ID miRNA Experiments Reference
MIRT1101892 hsa-miR-3065-5p CLIP-seq
MIRT1101893 hsa-miR-4786-5p CLIP-seq
MIRT1101894 hsa-miR-4797-5p CLIP-seq
MIRT1101895 hsa-miR-548v CLIP-seq
MIRT2027695 hsa-miR-4326 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 31515488, 32296183
GO:0005615 Component Extracellular space HDA 23580065
GO:0005829 Component Cytosol TAS
GO:0031424 Process Keratinization TAS
GO:0045095 Component Keratin filament IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601928 6463 ENSG00000170442
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O43790
Protein name Keratin, type II cuticular Hb6 (Hair keratin K2.11) (Keratin-86) (K86) (Type II hair keratin Hb6) (Type-II keratin Kb26)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16208 Keratin_2_head 2 → 102 Keratin type II head Family
PF00038 Filament 105 → 416 Intermediate filament protein Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Synthesis begins slightly higher in the hair shaft than HB1 and HB3 and continues much farther up, ending in the keratogeneous zone. {ECO:0000269|PubMed:9084137}.
Sequence
Sequence length 486
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Keratinization
Formation of the cornified envelope
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal
Disease term Disease name dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Hypotrichosis Hypotrichosis rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819
View all (18 more)
Keratosis pilaris Keratosis pilaris rs483353013
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Monilethrix monilethrix-1 GenCC
Show/Hide Text Mining Associations (2)
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Ovarian Epithelial Associate 33482905
Monilethrix Associate 35146972, 36382623