Human Gene KDELR2 (uc003sqe.4)
  Description: Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2 (KDELR2), transcript variant 1, mRNA.
RefSeq Summary (NM_006854): 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].
Transcript (Including UTRs)
   Position: hg19 chr7:6,500,712-6,523,849 Size: 23,138 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr7:6,502,772-6,523,688 Size: 20,917 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:6,500,712-6,523,849)mRNA (may differ from genome)Protein (212 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ERD22_HUMAN
DESCRIPTION: RecName: Full=ER lumen protein retaining receptor 2; AltName: Full=ERD2-like protein 1; Short=ELP-1; AltName: Full=KDEL endoplasmic reticulum protein retention receptor 2; Short=KDEL receptor 2;
FUNCTION: Required for the retention of luminal endoplasmic reticulum proteins. Determines the specificity of the luminal ER protein retention system. Also required for normal vesicular traffic through the Golgi. This receptor recognizes K-D-E-L.
INTERACTION: Q13530:SERINC3; NbExp=1; IntAct=EBI-1056498, EBI-1045571;
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
SIMILARITY: Belongs to the ERD2 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 136.51 RPKM in Cells - Cultured fibroblasts
Total median expression: 2285.05 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -74.20161-0.461 Picture PostScript Text
3' UTR -582.052060-0.283 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000133 - ER_ret_rcpt

Pfam Domains:
PF00810 - ER lumen protein retaining receptor

ModBase Predicted Comparative 3D Structure on P33947
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005046 KDEL sequence binding
GO:0046923 ER retention sequence binding

Biological Process:
GO:0006621 protein retention in ER lumen
GO:0006886 intracellular protein transport
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport

Cellular Component:
GO:0000139 Golgi membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005801 cis-Golgi network
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030133 transport vesicle


-  Descriptions from all associated GenBank mRNAs
  AK127440 - Homo sapiens cDNA FLJ45532 fis, clone BRTHA2030036.
LF384070 - JP 2014500723-A/191573: Polycomb-Associated Non-Coding RNAs.
AK093917 - Homo sapiens cDNA FLJ36598 fis, clone TRACH2014495, highly similar to ER LUMEN PROTEIN RETAINING RECEPTOR 2.
LF360117 - JP 2014500723-A/167620: Polycomb-Associated Non-Coding RNAs.
M88458 - Human ELP-1 mRNA sequence.
BC008081 - Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2, mRNA (cDNA clone MGC:655 IMAGE:2966703), complete cds.
BC014568 - Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2, mRNA (cDNA clone IMAGE:4063584), **** WARNING: chimeric clone ****.
LF360116 - JP 2014500723-A/167619: Polycomb-Associated Non-Coding RNAs.
BC012994 - Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2, mRNA (cDNA clone MGC:3337 IMAGE:3604062), complete cds.
BC071982 - Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2, mRNA (cDNA clone MGC:88679 IMAGE:5477638), complete cds.
JD250764 - Sequence 231788 from Patent EP1572962.
LF360115 - JP 2014500723-A/167618: Polycomb-Associated Non-Coding RNAs.
JD046172 - Sequence 27196 from Patent EP1572962.
CU687206 - Synthetic construct Homo sapiens gateway clone IMAGE:100023122 5' read KDELR2 mRNA.
KJ893201 - Synthetic construct Homo sapiens clone ccsbBroadEn_02595 KDELR2 gene, encodes complete protein.
X63745 - H.sapiens ERD2.2 mRNA for KDEL receptor.
LF360114 - JP 2014500723-A/167617: Polycomb-Associated Non-Coding RNAs.
JD437064 - Sequence 418088 from Patent EP1572962.
AK315702 - Homo sapiens cDNA, FLJ96801, Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum proteinretention receptor 2 (KDELR2), mRNA.
DQ892879 - Synthetic construct clone IMAGE:100005509; FLH190592.01X; RZPDo839B1276D KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2 (KDELR2) gene, encodes complete protein.
CU675925 - Synthetic construct Homo sapiens gateway clone IMAGE:100020256 5' read KDELR2 mRNA.
CU680460 - Synthetic construct Homo sapiens gateway clone IMAGE:100018023 5' read KDELR2 mRNA.
KJ898330 - Synthetic construct Homo sapiens clone ccsbBroadEn_07724 KDELR2 gene, encodes complete protein.
KJ898331 - Synthetic construct Homo sapiens clone ccsbBroadEn_07725 KDELR2 gene, encodes complete protein.
DQ896128 - Synthetic construct Homo sapiens clone IMAGE:100010588; FLH190588.01L; RZPDo839B1266D KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2 (KDELR2) gene, encodes complete protein.
LF360113 - JP 2014500723-A/167616: Polycomb-Associated Non-Coding RNAs.
LF360112 - JP 2014500723-A/167615: Polycomb-Associated Non-Coding RNAs.
LF360111 - JP 2014500723-A/167614: Polycomb-Associated Non-Coding RNAs.
AK124219 - Homo sapiens cDNA FLJ42225 fis, clone THYMU2040427.
LF360110 - JP 2014500723-A/167613: Polycomb-Associated Non-Coding RNAs.
LF360107 - JP 2014500723-A/167610: Polycomb-Associated Non-Coding RNAs.
JD458281 - Sequence 439305 from Patent EP1572962.
JD128940 - Sequence 109964 from Patent EP1572962.
JD458430 - Sequence 439454 from Patent EP1572962.
MA619647 - JP 2018138019-A/191573: Polycomb-Associated Non-Coding RNAs.
MA595694 - JP 2018138019-A/167620: Polycomb-Associated Non-Coding RNAs.
MA595693 - JP 2018138019-A/167619: Polycomb-Associated Non-Coding RNAs.
MA595692 - JP 2018138019-A/167618: Polycomb-Associated Non-Coding RNAs.
MA595691 - JP 2018138019-A/167617: Polycomb-Associated Non-Coding RNAs.
MA595690 - JP 2018138019-A/167616: Polycomb-Associated Non-Coding RNAs.
MA595689 - JP 2018138019-A/167615: Polycomb-Associated Non-Coding RNAs.
MA595688 - JP 2018138019-A/167614: Polycomb-Associated Non-Coding RNAs.
MA595687 - JP 2018138019-A/167613: Polycomb-Associated Non-Coding RNAs.
MA595684 - JP 2018138019-A/167610: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa05110 - Vibrio cholerae infection

Reactome (by CSHL, EBI, and GO)

Protein P33947 (Reactome details) participates in the following event(s):

R-HSA-6807875 ARFGAP, cargo, v-SNAREs and p24 proteins bind nascent COPI complex
R-HSA-6811417 ARFGAP, cargo, vSNARES and p24 proteins bind COPI vesicles at Golgi
R-HSA-6807877 ARFGAPs stimulate ARF GTPase activity
R-HSA-6811418 ARFGAPs stimulate ARF GTPase activity at the Golgi membrane
R-HSA-6811426 Retrograde COPI vesicles bind kinesin and microtubules
R-HSA-6809003 ERGIC-to-Golgi vesicles bind dynein:dynactin
R-HSA-6811423 Retrograde vesicle is tethered at the ER by the NRZ complex and t-SNAREs
R-HSA-6809011 cis-Golgi t-SNAREs bind YKT6 on tethered vesicle
R-HSA-6809006 Vesicle is tethered through binding GOLGA2:GORASP1, GOLGB1 and the COG complex
R-HSA-6807878 COPI-mediated anterograde transport
R-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-199977 ER to Golgi Anterograde Transport
R-HSA-8856688 Golgi-to-ER retrograde transport
R-HSA-199991 Membrane Trafficking
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-5653656 Vesicle-mediated transport
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A4D2P4, ERD2.2, ERD22_HUMAN, NM_006854, NP_006845, P33947, Q6IPC5, Q96E30
UCSC ID: uc003sqe.4
RefSeq Accession: NM_006854
Protein: P33947 (aka ERD22_HUMAN or ER22_HUMAN)
CCDS: CCDS5351.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_006854.3
exon count: 5CDS single in 3' UTR: no RNA size: 2874
ORF size: 639CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1478.00frame shift in genome: no % Coverage: 99.51
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.