KCTD17 (potassium channel tetramerization domain containing 17)

2014-11-01  

Identity

HGNC
KCTD17
LOCATION
22q12.3
LOCUSID
79734
ALIAS
-

Other Information

Locus ID:

NCBI: 79734
MIM: 616386
HGNC: 25705
Ensembl: ENSG00000100379

Variants:

dbSNP: 79734
ClinVar: 79734
TCGA: ENSG00000100379
COSMIC: KCTD17

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100379ENST00000402077Q8N5Z5
ENSG00000100379ENST00000403888Q8N5Z5
ENSG00000100379ENST00000421900H7C323
ENSG00000100379ENST00000431531B0QYB2
ENSG00000100379ENST00000456470H0Y731
ENSG00000100379ENST00000610767A0A087WX35

Expression (GTEx)

0
50
100
150
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
259832432015A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.23

Citation

Dessen P

KCTD17 (potassium channel tetramerization domain containing 17)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64822/kctd17