KY (kyphoscoliosis peptidase)

2011-03-01  

Identity

HGNC
KY
LOCATION
3q22.2
LOCUSID
339855
ALIAS
MFM7

Other Information

Locus ID:

NCBI: 339855
MIM: 605739
HGNC: 26576
Ensembl: ENSG00000174611

Variants:

dbSNP: 339855
ClinVar: 339855
TCGA: ENSG00000174611
COSMIC: KY

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174611ENST00000423778Q8NBH2
ENSG00000174611ENST00000503669B4DGA7
ENSG00000174611ENST00000508956Q8NBH2

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
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

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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
280052672017Human gingiva transcriptome during wound healing.6
274847702016Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects.0
274854082016A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency.0
284886832017Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.0

Citation

Dessen P

KY (kyphoscoliosis peptidase)

Atlas Genet Cytogenet Oncol Haematol. 2011-03-01

Online version: http://atlasgeneticsoncology.org/gene/52152/ky