KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KDELR2provided by HGNC
Official Full Name: KDEL endoplasmic reticulum protein retention receptor 2provided by HGNC
Primary source: HGNC:HGNC:6305
See related: Ensembl:ENSG00000136240 MIM:609024; AllianceGenome:HGNC:6305
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ELP1; OI21; ELP-1; ERD2.2
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-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]
Expression: Ubiquitous expression in placenta (RPKM 79.8), stomach (RPKM 78.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p22.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (6461089..6484152, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (6580398..6603413, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (6500720..6523783, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
Title: Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
KDELR2 promotes breast cancer proliferation via HDAC3-mediated cell cycle progression.
Title: KDELR2 promotes breast cancer proliferation via HDAC3-mediated cell cycle progression.
KDELR2 is an unfavorable prognostic biomarker and regulates CCND1 to promote tumor progression in glioma.
Title: KDELR2 is an unfavorable prognostic biomarker and regulates CCND1 to promote tumor progression in glioma.
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.
Title: Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.
Cell-type-specific differences in KDEL receptor clustering in mammalian cells.
Title: Cell-type-specific differences in KDEL receptor clustering in mammalian cells.
KDELR2 is a target gene downstream of HIF1-alpha driving the malignancy of glioblastoma.
Title: KDELR2 Promotes Glioblastoma Tumorigenesis Targeted by HIF1a via mTOR Signaling Pathway.
Our data indicate that KDELR2 competes with measles virus (MV) envelope proteins for binding to calnexin and GRP78/Bip, and that this interaction limits the availability of the chaperones for MV proteins, causing the reduction of virus spread and titers.
Title: KDELR2 Competes with Measles Virus Envelope Proteins for Cellular Chaperones Reducing Their Chaperone-Mediated Cell Surface Transport.
show that Golgi-based, KDEL receptor-dependent signalling promotes lysosome repositioning to the perinuclear area, involving a complex process intertwined to autophagy, lipid-droplet turnover and Golgi-mediated secretion.
Title: KDEL receptor regulates secretion by lysosome relocation- and autophagy-dependent modulation of lipid-droplet turnover.
A Golgi-based KDELR-dependent signalling pathway controls invadopodia-dependent extracellular matrix degradation.
Title: A Golgi-based KDELR-dependent signalling pathway controls extracellular matrix degradation.
Hrr25 protein kinase directly modifies Elp1 on two sites and we provide evidence that phosphorylation plays a positive role in the tRNA modification
Title: Phosphorylation of Elp1 by Hrr25 is required for elongator-dependent tRNA modification in yeast.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Osteogenesis imperfecta, type 21 MedGen: C5436875 OMIM: 619131 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH91356 (e-PCR)
- UniSTS:83741

A002F46 (e-PCR)
- UniSTS:27421

STS-T98803 (e-PCR)
- UniSTS:2334

D7S2873 (e-PCR)
- UniSTS:17234

D7S2139E (e-PCR)
- UniSTS:151137

SHGC-55953 (e-PCR)
- UniSTS:67436

RH48479 (e-PCR)
- UniSTS:63090

D7S2246 (e-PCR)
- UniSTS:41085

SHGC-53741 (e-PCR)
- UniSTS:2201

D7S2768 (e-PCR)
- UniSTS:64180

A002G37 (e-PCR)
- UniSTS:5072

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ER retention sequence binding	IBA Inferred from Biological aspect of Ancestor more info
enables KDEL sequence binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in maintenance of protein localization in endoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein retention in ER lumen	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with COPI-coated vesicle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info
is_active_in cis-Golgi network	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in transport vesicle	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ER lumen protein-retaining receptor 2

Names: (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2; ERD-2-like protein; ERD2-like protein 1; KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2; KDEL receptor 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001100603.2 → NP_001094073.1 ER lumen protein-retaining receptor 2 isoform 2

See identical proteins and their annotated locations for NP_001094073.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the coding region, compared to variant 1, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a longer and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC072052, AK124072, BC071982

Consensus CDS

CCDS43550.1

UniProtKB/Swiss-Prot

P33947

Related

ENSP00000420501.1, ENST00000490996.1

Conserved Domains (1) summary

pfam00810
Location:28 → 119

ER_lumen_recept; ER lumen protein retaining receptor
NM_006854.4 → NP_006845.1 ER lumen protein-retaining receptor 2 isoform 1

See identical proteins and their annotated locations for NP_006845.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC072052, AK124072, AL547016, DA713413

Consensus CDS

CCDS5351.1

UniProtKB/Swiss-Prot

A4D2P4, P33947, Q6IPC5, Q96E30

Related

ENSP00000258739.4, ENST00000258739.9

Conserved Domains (1) summary

pfam00810
Location:28 → 169

ER_lumen_recept; ER lumen protein retaining receptor