KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2)

2014-08-01  

Identity

HGNC
KDELR2
LOCATION
7p22.1
LOCUSID
11014
ALIAS
ELP-1,ELP1,ERD2.2,OI21
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 11014
MIM: 609024
HGNC: 6305
Ensembl: ENSG00000136240

Variants:

dbSNP: 11014
ClinVar: 11014
TCGA: ENSG00000136240
COSMIC: KDELR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136240ENST00000258739P33947
ENSG00000136240ENST00000258739A0A024QZT7
ENSG00000136240ENST00000382267H7BYF7
ENSG00000136240ENST00000490996P33947

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
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
Vibrio cholerae infectionKEGGko05110
Vibrio cholerae infectionKEGGhsa05110
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
COPI-mediated anterograde transportREACTOMER-HSA-6807878
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Golgi-to-ER retrograde transportREACTOMER-HSA-8856688
COPI-dependent Golgi-to-ER retrograde trafficREACTOMER-HSA-6811434

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
339641842021Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.4
341464612021KDELR2 promotes breast cancer proliferation via HDAC3-mediated cell cycle progression.16
339641842021Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.4
341464612021KDELR2 promotes breast cancer proliferation via HDAC3-mediated cell cycle progression.16
325347032020KDELR2 is an unfavorable prognostic biomarker and regulates CCND1 to promote tumor progression in glioma.12
326451012020Cell-type-specific differences in KDEL receptor clustering in mammalian cells.6
330533342020Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.25
325347032020KDELR2 is an unfavorable prognostic biomarker and regulates CCND1 to promote tumor progression in glioma.12
326451012020Cell-type-specific differences in KDEL receptor clustering in mammalian cells.6
330533342020Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.25
306211482019KDELR2 Competes with Measles Virus Envelope Proteins for Cellular Chaperones Reducing Their Chaperone-Mediated Cell Surface Transport.3
307607042019KDEL receptor regulates secretion by lysosome relocation- and autophagy-dependent modulation of lipid-droplet turnover.24
313422322019KDELR2 Promotes Glioblastoma Tumorigenesis Targeted by HIF1a via mTOR Signaling Pathway.15
306211482019KDELR2 Competes with Measles Virus Envelope Proteins for Cellular Chaperones Reducing Their Chaperone-Mediated Cell Surface Transport.3
307607042019KDEL receptor regulates secretion by lysosome relocation- and autophagy-dependent modulation of lipid-droplet turnover.24

Citation

Dessen P

KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54402/js/lib/case-report-explorer/teaching-explorer/