Gene Gene information from NCBI Gene database.
Entrez ID 11014
Gene name KDEL endoplasmic reticulum protein retention receptor 2
Gene symbol KDELR2
Synonyms (NCBI Gene)
ELP-1ELP1ERD2.2OI21
Chromosome 7
Chromosome location 7p22.1
Summary 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.
382
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 1325562, 18086916
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0005046 Function KDEL sequence binding IDA 1325562, 18086916
GO:0005783 Component Endoplasmic reticulum IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609024 6305 ENSG00000136240
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Osteogenesis imperfecta, type 21 Pathogenic rs1265005474, rs1785499146, rs1785500333, rs1785503102 RCV001449582
RCV001449583
RCV001270695
RCV001270698
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alacrima Alacrima HPO_DG
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 16240349, 17824900, 28667575
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 11281413, 12774215, 22325360
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 22325360 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 34590699 Associate
★☆☆☆☆
Found in Text Mining only
Becker Muscular Dystrophy Becker Muscular Dystrophy BEFREE 27367833
★☆☆☆☆
Found in Text Mining only
Blast Phase Blast phase chronic myelogenous leukemia BEFREE 23275297
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 27811057
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 30989732
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 23273547
★☆☆☆☆
Found in Text Mining only