DERL2 (derlin 2)

2003-02-01  

Identity

HGNC
DERL2
LOCATION
17p13.2
LOCUSID
51009
ALIAS
CGI-101,DERtrin-2,F-LAN-1,F-LANa,FLANa,derlin-2

Other Information

Locus ID:

NCBI: 51009
MIM: 610304
HGNC: 17943
Ensembl: ENSG00000072849

Variants:

dbSNP: 51009
ClinVar: 51009
TCGA: ENSG00000072849
COSMIC: DERL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000072849ENST00000158771Q9GZP9
ENSG00000072849ENST00000570848I3L1S8
ENSG00000072849ENST00000571476I3L4W7
ENSG00000072849ENST00000571971I3L0R8
ENSG00000072849ENST00000572834I3L3R8
ENSG00000072849ENST00000573637I3L1W3
ENSG00000072849ENST00000574952I3L1W3
ENSG00000072849ENST00000575605I3L1T3
ENSG00000072849ENST00000576551K7EQE8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
N-glycan trimming in the ER and Calnexin/Calreticulin cycleREACTOMER-HSA-532668
Calnexin/calreticulin cycleREACTOMER-HSA-901042
ER Quality Control Compartment (ERQC)REACTOMER-HSA-901032
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Hh mutants abrogate ligand secretionREACTOMER-HSA-5387390
Hh mutants that don't undergo autocatalytic processing are degraded by ERADREACTOMER-HSA-5362768
Disorders of transmembrane transportersREACTOMER-HSA-5619115
ABC transporter disordersREACTOMER-HSA-5619084
Defective CFTR causes cystic fibrosisREACTOMER-HSA-5678895
Signal TransductionREACTOMER-HSA-162582
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog ligand biogenesisREACTOMER-HSA-5358346
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556

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
161865092005Multiprotein complexes that link dislocation, ubiquitination, and extraction of misfolded proteins from the endoplasmic reticulum membrane.141
164491892006Derlin-2 and Derlin-3 are regulated by the mammalian unfolded protein response and are required for ER-associated degradation.130
169123212006Murine polyomavirus requires the endoplasmic reticulum protein Derlin-2 to initiate infection.54
238674612013Derlin2 protein facilitates HRD1-mediated retro-translocation of sonic hedgehog at the endoplasmic reticulum.15
261075142015Proteasomal Degradation of Proinsulin Requires Derlin-2, HRD1 and p97.7
291671722018Podocytes exhibit a specialized protein quality control employing derlin-2 in kidney disease.2

Citation

Dessen P

DERL2 (derlin 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40518/derl2-(derlin-2)