Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11014
Gene name Gene Name - the full gene name approved by the HGNC.
KDEL endoplasmic reticulum protein retention receptor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KDELR2
Synonyms (NCBI Gene) Gene synonyms aliases
ELP-1, ELP1, ERD2.2, OI21
Disease Acronyms (UniProt) Disease acronyms from UniProt database
OI21
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p22.1
Summary Summary of gene provided in NCBI Entrez Gene.
Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-ter
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022164 hsa-miR-124-3p Microarray 18668037
MIRT050641 hsa-miR-19a-3p CLASH 23622248
MIRT048554 hsa-miR-100-5p CLASH 23622248
MIRT044224 hsa-miR-301a-3p CLASH 23622248
MIRT042919 hsa-miR-324-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 1325562, 18086916
GO:0000139 Component Golgi membrane TAS
GO:0005046 Function KDEL sequence binding IDA 1325562, 18086916
GO:0005783 Component Endoplasmic reticulum IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane IDA 1325562, 18086916
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609024 6305 ENSG00000136240
Protein
UniProt ID P33947
Protein name ER lumen protein-retaining receptor 2 (ERD2-like protein 1) (ELP-1) (KDEL endoplasmic reticulum protein retention receptor 2) (KDEL receptor 2)
Protein function Membrane receptor that binds the K-D-E-L sequence motif in the C-terminal part of endoplasmic reticulum resident proteins and maintains their localization in that compartment by participating to their vesicle-mediated recycling back from the Gol
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00810 ER_lumen_recept 28 169 ER lumen protein retaining receptor Family
Sequence
Sequence length 212
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Vibrio cholerae infection   COPI-mediated anterograde transport
COPI-dependent Golgi-to-ER retrograde traffic
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 29212778
Unknown
Disease term Disease name Evidence References Source
Osteogenesis Imperfecta osteogenesis imperfecta, osteogenesis imperfecta, type 21 GenCC
Irritable Bowel Syndrome Irritable Bowel Syndrome GWAS
Dermatitis Dermatitis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Glioblastoma Associate 30894197
Glioma Associate 30894197
Lung Neoplasms Associate 32753652
Neoplasm Metastasis Associate 32753652
Uveal melanoma Associate 37563735