SEL1L2 (SEL1L2 adaptor subunit of ERAD E3 ligase)

2014-11-01  

Identity

HGNC
SEL1L2
LOCATION
20p12.1
LOCUSID
80343
ALIAS
C20orf50,sel-1L2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 80343
MIM: 614289
HGNC: 15897
Ensembl: ENSG00000101251

Variants:

dbSNP: 80343
ClinVar: 80343
TCGA: ENSG00000101251
COSMIC: SEL1L2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101251ENST00000284951Q5TEA6
ENSG00000101251ENST00000378072Q5TEA6
ENSG00000101251ENST00000423870F8WE69
ENSG00000101251ENST00000473203C9JNX3
ENSG00000101251ENST00000475649H7C4S6
ENSG00000101251ENST00000486903A0A2R8Y3T2
ENSG00000101251ENST00000646153A0A2R8YF92

Expression (GTEx)

0
5
10
15
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

Pathways

PathwaySourceExternal ID
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
HRD1/SEL1 ERAD complexKEGGhsa_M00403
HRD1/SEL1 ERAD complexKEGGM00403

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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

SEL1L2 (SEL1L2 adaptor subunit of ERAD E3 ligase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73100/sel1l2-(sel1l2-adaptor-subunit-of-erad-e3-ligase)