KRT6C (keratin 6C)

2014-11-01  

Identity

HGNC
KRT6C
LOCATION
12q13.13
LOCUSID
286887
ALIAS
K6E,KRT6E,PPKNEFD

Other Information

Locus ID:

NCBI: 286887
MIM: 612315
HGNC: 20406
Ensembl: ENSG00000170465

Variants:

dbSNP: 286887
ClinVar: 286887
TCGA: ENSG00000170465
COSMIC: KRT6C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170465ENST00000252250P48668

Expression (GTEx)

0
100
200
300
400
500
600
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
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
293573562018Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay.4
196093112010Keratin K6c mutations cause focal palmoplantar keratoderma.0
200818852010Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma.0
236626362013Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma.0
263019472016Focal PPK secondary to a novel KRT6C mutation (Pachyonychia congenita-K6c).0

Citation

Dessen P

KRT6C (keratin 6C)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/65035/krt6c