SEZ6 (seizure related 6 homolog)

2014-11-01  

Identity

HGNC
SEZ6
LOCATION
17q11.2
LOCUSID
124925
ALIAS
BSRPC
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 124925
MIM: 616666
HGNC: 15955
Ensembl: ENSG00000063015

Variants:

dbSNP: 124925
ClinVar: 124925
TCGA: ENSG00000063015
COSMIC: SEZ6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000063015ENST00000317338Q53EL9
ENSG00000063015ENST00000335960C9JFF1
ENSG00000063015ENST00000360295Q53EL9
ENSG00000063015ENST00000442608A0A0A0MSU7
ENSG00000063015ENST00000535262H0YFT6
ENSG00000063015ENST00000539265H0YGK0
ENSG00000063015ENST00000540419H0YFX0
ENSG00000063015ENST00000540632H0YF95
ENSG00000063015ENST00000585644K7ELJ4

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
170865432007Febrile seizures are associated with mutation of seizure-related (SEZ) 6, a brain-specific gene.15
303093782018Exome sequencing in an Italian family with Alzheimer's disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H.2

Citation

Dessen P

SEZ6 (seizure related 6 homolog)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73161/sez6-(seizure-related-6-homolog)