KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2)

2014-08-01  

Identity

HGNC
LOCATION
7p22.1
LOCUSID
ALIAS
ELP-1,ELP1,ERD2.2,OI21
FUSION GENES

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

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

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/haematological-explorer/gene-fusions/css/lib/dataTables.bootstrap.min.css