KDELR2
entrez
11014
canonical
uniprot
P33947
canonical
ensembl
ENSG00000136240
resolver
ensp
ENSP00000258739
resolver
ensp
ENSP00000420501
resolver
genesymbol
KDELR2
resolver
genesymbol_syn
ERD2.2
resolver
hgnc
HGNC:6305
resolver
uniprot
A4D2P4
resolver
uniprot
Q6IPC5
resolver
uniprot
Q96E30
resolver
uniprot_entry
ERD22_HUMAN
resolver
uniprot_sec
A4D2P4
resolver
uniprot_sec
Q6IPC5
resolver
uniprot_sec
Q96E30
resolver
amino_acid_sequence
MNIFRLTGDLSHLAAIVILLLKIWKTRSCAGISGKSQLLFALVFTTRYLDLFTSFISLYNTSMKVIYLACSYATVYLIYLKFKATYDGNHDTFRVEFLVVPVGGLSFLVNHDFSPLEILWTFSIYLESVAILPQLFMISKTGEAETITTHYLFFLGLYRALYLVNWIWRFYFEGFFDLIAVVAGVVQTILYCDFFYLYITKVLKGKKLSLPA
uniprot
proteins
disease_involvement
DISEASE: Osteogenesis imperfecta 21 (OI21) [MIM:619131]: An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI21 is a progressively deforming form characterized by multiple fractures appearing at birth or early childhood. {ECO:0000269|PubMed:33053334, ECO:0000269|PubMed:33964184}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 Golgi (PubMed:1325562, PubMed:18086916, PubMed:33053334). Binding is pH dependent, and is optimal at pH 5-5.4 (By similarity). {ECO:0000250|UniProtKB:Q5ZKX9, ECO:0000269|PubMed:1325562, ECO:0000269|PubMed:18086916, ECO:0000269|PubMed:33053334}.
uniprot
proteins
mass_dalton
24422
uniprot
proteins
protein_family
ERD2 family
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
1316805
uniprot
proteins
pubmed
1325562
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18086916
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
33053334
uniprot
proteins
pubmed
33964184
uniprot
proteins
sequence_length
212
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:1325562, ECO:0000269|PubMed:18086916}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q5ZKX9}. Golgi apparatus membrane {ECO:0000269|PubMed:1325562, ECO:0000269|PubMed:18086916}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q5ZKX9}. Cytoplasmic vesicle, COPI-coated vesicle membrane {ECO:0000269|PubMed:18086916}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q5ZKX9}. Note=Localized in the Golgi in the absence of bound proteins with the sequence motif K-D-E-L. Trafficks back to the endoplasmic reticulum together with cargo proteins containing the sequence motif K-D-E-L. {ECO:0000269|PubMed:1325562, ECO:0000305|PubMed:18086916}.
uniprot
proteins
transmembrane_region
TRANSMEM 5..24; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q5ZKX9"; TRANSMEM 33..52; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q5ZKX9"; TRANSMEM 59..79; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q5ZKX9"; TRANSMEM 93..110; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q5ZKX9"; TRANSMEM 117..135; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q5ZKX9"; TRANSMEM 150..168; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q5ZKX9"; TRANSMEM 179..199; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q5ZKX9
uniprot
proteins