KRT14 (keratin 14)

2008-05-01  

Identity

HGNC
KRT14
LOCATION
17q21.2
LOCUSID
3861
ALIAS
CK14,EBS3,EBS4,K14,NFJ
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3861
MIM: 148066
HGNC: 6416
Ensembl: ENSG00000186847

Variants:

dbSNP: 3861
ClinVar: 3861
TCGA: ENSG00000186847
COSMIC: KRT14

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186847ENST00000167586P02533

Expression (GTEx)

0
1000
2000
3000
4000
5000
6000
7000
8000
9000
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
384742362024EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.0
385809892024Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature.0
384742362024EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.0
385809892024Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature.0
350313082022Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants.4
364467802022EZH2-H3K27me3 mediated KRT14 upregulation promotes TNBC peritoneal metastasis.18
350313082022Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants.4
364467802022EZH2-H3K27me3 mediated KRT14 upregulation promotes TNBC peritoneal metastasis.18
345091712021Molecular origin of the effects of mutation on the structure and mechanical properties of human epithelial keratin K5/K14.1
348303282021Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.7
349629362021A mathematical model for the dependence of keratin aggregate formation on the quantity of mutant keratin expressed in EGFP-K14 R125P keratinocytes.0
345091712021Molecular origin of the effects of mutation on the structure and mechanical properties of human epithelial keratin K5/K14.1
348303282021Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.7
349629362021A mathematical model for the dependence of keratin aggregate formation on the quantity of mutant keratin expressed in EGFP-K14 R125P keratinocytes.0
319957432020Structure-Function Analyses of a Keratin Heterotypic Complex Identify Specific Keratin Regions Involved in Intermediate Filament Assembly.10

Citation

Dessen P

KRT14 (keratin 14)

Atlas Genet Cytogenet Oncol Haematol. 2008-05-01

Online version: http://atlasgeneticsoncology.org/gene/50134/krt14-(keratin-14)