Identity
HGNC
LOCATION
12q13.13
LOCUSID
ALIAS
HB6,Hb1,K86,KRTHB1,KRTHB6,MNX
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3892
MIM: 601928
HGNC: 6463
Ensembl: ENSG00000170442
Variants:
dbSNP: 3892
ClinVar: 3892
TCGA: ENSG00000170442
COSMIC: KRT86
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000170442 | ENST00000293525 | O43790 |
| ENSG00000170442 | ENST00000423955 | O43790 |
| ENSG00000170442 | ENST00000553310 | U3KPR1 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Developmental Biology | REACTOME | R-HSA-1266738 |
| Keratinization | REACTOME | R-HSA-6805567 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 29701253 | 2018 | Identification of a novel missense KRT86 mutation in a Chinese family with monilethrix. | 1 |
| 29701253 | 2018 | Identification of a novel missense KRT86 mutation in a Chinese family with monilethrix. | 1 |
| 25557232 | 2015 | Novel KRT83 and KRT86 mutations associated with monilethrix. | 5 |
| 25809918 | 2015 | A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism. | 5 |
| 25557232 | 2015 | Novel KRT83 and KRT86 mutations associated with monilethrix. | 5 |
| 25809918 | 2015 | A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism. | 5 |
| 23981620 | 2013 | Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix. | 1 |
| 23981620 | 2013 | Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix. | 1 |
| 22568869 | 2012 | Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation. | 1 |
| 22670615 | 2012 | A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance. | 4 |
| 22568869 | 2012 | Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation. | 1 |
| 22670615 | 2012 | A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance. | 4 |
| 19505862 | 2009 | Mutation E402K of the hHb6 in a Chinese Han family with monilethrix. | 1 |
| 19505862 | 2009 | Mutation E402K of the hHb6 in a Chinese Han family with monilethrix. | 1 |
| 18393232 | 2008 | [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix]. | 1 |
Citation
Dessen P
KRT86 (keratin 86)
Atlas Genet Cytogenet Oncol Haematol. 2003-08-01
Online version: http://atlasgeneticsoncology.org/gene/41106/krt86-(keratin-86)
