Seroatlas · Human Serome Atlas

KDELR2

ER lumen protein-retaining receptor 2

Also known as: ELP-1, ERD2.2, ERD22_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P33947
Gene: KDELR2
Ensembl: ENSG00000136240
Chromosome: 7
Canonical length: 212 aa
Protein class: Disease related genes, Human disease related genes, Predicted membrane proteins

OverviewNCBI 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-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR2 was the second member of the family to be identified, and it encodes a protein which is 83% identical to the KDELR1 gene product. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

212 residues, UniProt reviewed canonical sequence.

>P33947|KDELR2
     1  MNIFRLTGDL SHLAAIVILL LKIWKTRSCA GISGKSQLLF ALVFTTRYLD LFTSFISLYN
    61  TSMKVIYLAC SYATVYLIYL KFKATYDGNH DTFRVEFLVV PVGGLSFLVN HDFSPLEILW
   121  TFSIYLESVA ILPQLFMISK TGEAETITTH YLFFLGLYRA LYLVNWIWRF YFEGFFDLIA
   181  VVAGVVQTIL YCDFFYLYIT KVLKGKKLSL PA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KDELR2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 7
Mean surface accessibility (rSASA): 0.26
Highest tissue expression: 215 nTPM

Expression across tissuesHPA

Tissue

liver: 215 nTPM
stomach: 147 nTPM
placenta: 140 nTPM
rectum: 135 nTPM
cervix: 125 nTPM
colon: 125 nTPM

Single-cell type

late primary spermatocytes: 487 nCPM
early spermatids: 406 nCPM
extravillous trophoblasts: 99 nCPM
gastric progenitor cells: 80 nCPM
plasma cells: 71 nCPM
syncytiotrophoblasts: 66 nCPM

Immune cell

plasmacytoid DC: 128 nTPM
basophil: 78 nTPM
non-classical monocyte: 78 nTPM
eosinophil: 77 nTPM
intermediate monocyte: 75 nTPM
classical monocyte: 72 nTPM

Brain region

choroid plexus: 73 nTPM
thalamus: 35 nTPM
white matter: 35 nTPM
medulla oblongata: 33 nTPM
hypothalamus: 32 nTPM
spinal cord: 32 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KDELR2.

Disease | AllUniProt

Conditions KDELR2 is implicated in, by any mechanism.

Osteogenesis imperfecta 21 (OI21) MIM:619131

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 48 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Osteogenesis imperfecta, type 21

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.74
gnomAD pLI: 0.17
gnomAD missense Z: 0.8
DepMap mean gene effect: -0.12
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads KDELR2 as an antibody target. Whether an autoantibody or antibody against KDELR2 could matter depends on whether native KDELR2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KDELR2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label KDELR2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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