Details for: KDELR2

Gene ID: 11014

Symbol: KDELR2

Ensembl ID: ENSG00000136240

Description: KDEL endoplasmic reticulum protein retention receptor 2

Associated with

Other Information

Genular Protein ID: 574860933

Symbol: ERD22_HUMAN

Name: ER lumen protein-retaining receptor 2

UniProtKB Accession Codes:

P33947 A4D2P4 Q6IPC5 Q96E30

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 14 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 2 RefSeq 2 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TopDownProteomics 2 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1325562

Title: Sequence of a second human KDEL receptor.

PubMed ID: 1325562

DOI: 10.1016/0022-2836(92)91039-r

PubMed ID: 1316805

Title: A brefeldin A-like phenotype is induced by the overexpression of a human ERD-2-like protein, ELP-1.

PubMed ID: 1316805

DOI: 10.1016/0092-8674(92)90226-3

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 18086916

Title: A molecular specificity code for the three mammalian KDEL receptors.

PubMed ID: 18086916

DOI: 10.1083/jcb.200705180

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 33053334

Title: Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.

PubMed ID: 33053334

DOI: 10.1016/j.ajhg.2020.09.009

PubMed ID: 33964184

Title: Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.

PubMed ID: 33964184

DOI: 10.1002/ajmg.a.62221

Sequence Information:

  • Length: 212
  • Mass: 24422
  • Checksum: 81BECB983E503142
  • Sequence:
    • MNIFRLTGDL SHLAAIVILL LKIWKTRSCA GISGKSQLLF ALVFTTRYLD LFTSFISLYN 
TSMKVIYLAC SYATVYLIYL KFKATYDGNH DTFRVEFLVV PVGGLSFLVN HDFSPLEILW 
TFSIYLESVA ILPQLFMISK TGEAETITTH YLFFLGLYRA LYLVNWIWRF YFEGFFDLIA 
VVAGVVQTIL YCDFFYLYIT KVLKGKKLSL PA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.