KRT74 (keratin 74)

2014-11-01  

Identity

HGNC
KRT74
LOCATION
12q13.13
LOCUSID
121391
ALIAS
ADWH,HTSS2,HYPT3,K6IRS4,KRT5C,KRT6IRS4

Other Information

Locus ID:

NCBI: 121391
MIM: 608248
HGNC: 28929
Ensembl: ENSG00000170484

Variants:

dbSNP: 121391
ClinVar: 121391
TCGA: ENSG00000170484
COSMIC: KRT74

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170484ENST00000305620Q7RTS7
ENSG00000170484ENST00000549343F8W1S1

Expression (GTEx)

0
1
2
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
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
179751192008Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.65
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
126482122003K6irs1, K6irs2, K6irs3, and K6irs4 represent the inner-root-sheath-specific type II epithelial keratins of the human hair follicle.27
203464382010Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.17
190230992009Gene variants associated with ischemic stroke: the cardiovascular health study.16
211884182011Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.8
247145512014Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.5

Citation

Dessen P

KRT74 (keratin 74)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/65039/krt74