SZT2 (SZT2 subunit of KICSTOR complex)

2014-11-01  

Identity

HGNC
SZT2
LOCATION
1p34.2
LOCUSID
23334
ALIAS
C1orf84,DEE18,EIEE18,KIAA0467,KICS1,SZT2A,SZT2B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23334
MIM: 615463
HGNC: 29040
Ensembl: ENSG00000198198

Variants:

dbSNP: 23334
ClinVar: 23334
TCGA: ENSG00000198198
COSMIC: SZT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198198ENST00000372450Q5T011
ENSG00000198198ENST00000406439A0A0C4DG05
ENSG00000198198ENST00000470139A0A1W2PRY5
ENSG00000198198ENST00000562955Q5T011
ENSG00000198198ENST00000634258Q5T011
ENSG00000198198ENST00000639852A0A1W2PQY2

Expression (GTEx)

0
5
10
15
20
25
30
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
281993062017KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1.64
281993152017SZT2 dictates GATOR control of mTORC1 signalling.34
239321062013Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.23
243248322013An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability.7
285569532018Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.4
296967822018Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy.3
314303542019Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease.2
313971142019Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies.1

Citation

Dessen P

SZT2 (SZT2 subunit of KICSTOR complex)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74446/szt2