SEZ6L2 (seizure related 6 homolog like 2)

2003-12-01  

Identity

HGNC
SEZ6L2
LOCATION
16p11.2
LOCUSID
26470
ALIAS
BSRPA,PSK-1

Other Information

Locus ID:

NCBI: 26470
MIM: 616667
HGNC: 30844
Ensembl: ENSG00000174938

Variants:

dbSNP: 26470
ClinVar: 26470
TCGA: ENSG00000174938
COSMIC: SEZ6L2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174938ENST00000308713Q6UXD5
ENSG00000174938ENST00000346932Q6UXD5
ENSG00000174938ENST00000350527Q6UXD5
ENSG00000174938ENST00000350527A0A0A8K8P7
ENSG00000174938ENST00000537485Q6UXD5
ENSG00000174938ENST00000563118H3BN26
ENSG00000174938ENST00000568380I3L111
ENSG00000174938ENST00000617533A0A087WYL5

Expression (GTEx)

0
50
100
150
200
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
192425452009Association and mutation analyses of 16p11.2 autism candidate genes.35
192425452009Association and mutation analyses of 16p11.2 autism candidate genes.35
266982172016Cathepsin D and its newly identified transport receptor SEZ6L2 can modulate neurite outgrowth.18
192601392009Genome-wide association study of anthropometric traits in Korcula Island, Croatia.16
213942032011Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.11

Citation

Dessen P

SEZ6L2 (seizure related 6 homolog like 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/41884/sez6l2