KRT86 (keratin 86)

2003-08-01  

Identity

HGNC
KRT86
LOCATION
12q13.13
LOCUSID
3892
ALIAS
HB6,Hb1,K86,KRTHB1,KRTHB6,MNX
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3892
MIM: 601928
HGNC: 6463
Ensembl: ENSG00000170442

Variants:

dbSNP: 3892
ClinVar: 3892
TCGA: ENSG00000170442
COSMIC: KRT86

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170442ENST00000293525O43790
ENSG00000170442ENST00000423955O43790
ENSG00000170442ENST00000553310U3KPR1

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
KeratinizationREACTOMER-HSA-6805567

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
hair
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
157974582005Keratins of the human hair follicle.39
226706152012A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance.3
258099182015A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism.3
255572322015Novel KRT83 and KRT86 mutations associated with monilethrix.2
183932322008[Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].1
195058622009Mutation E402K of the hHb6 in a Chinese Han family with monilethrix.1
151837442004A novel promoter polymorphism (-71C>T) in KRTHB6 gene in Indian population.0
225688692012Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation.0
239816202013Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix.0
297012532018Identification of a novel missense KRT86 mutation in a Chinese family with monilethrix.0

Citation

Dessen P

KRT86 (keratin 86)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/41106/krt86