KIAA1217 (KIAA1217)

2014-08-01  

Identity

HGNC
KIAA1217
LOCATION
10p12.2
LOCUSID
56243
ALIAS
ETL4,SKT
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 56243
MIM: 617367
HGNC: 25428
Ensembl: ENSG00000120549

Variants:

dbSNP: 56243
ClinVar: 56243
TCGA: ENSG00000120549
COSMIC: KIAA1217

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000120549ENST00000307544Q5T5P2
ENSG00000120549ENST00000376451Q5T5P2
ENSG00000120549ENST00000376452Q5T5P2
ENSG00000120549ENST00000376454Q5T5P2
ENSG00000120549ENST00000376456Q5T5P1
ENSG00000120549ENST00000376462Q5T5P2
ENSG00000120549ENST00000396445Q5T5P2
ENSG00000120549ENST00000396446Q5T5P2
ENSG00000120549ENST00000430453Q5T5P2
ENSG00000120549ENST00000438429Q5T5P0
ENSG00000120549ENST00000458595Q5T5P2
ENSG00000120549ENST00000635163A0A0U1RRK8
ENSG00000120549ENST00000635504A0A0U1RQK8
ENSG00000120549ENST00000636305A0A1B0GU17

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
bone marrow

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
221077602011Genetic susceptibility of intervertebral disc degeneration among young Finnish adults.26
193384512009Association of the tag SNPs in the human SKT gene (KIAA1217) with lumbar disc herniation.15
193384512009Association of the tag SNPs in the human SKT gene (KIAA1217) with lumbar disc herniation.15
271500582016Identification of a novel partner gene, KIAA1217, fused to RET: Functional characterization and inhibitor sensitivity of two isoforms in lung adenocarcinoma.4

Citation

Dessen P

KIAA1217 (KIAA1217)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54408/kiaa1217