KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2) - Rat Genome Database
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Gene: KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2) Homo sapiens
Analyze
Symbol: KDELR2
Name: KDEL endoplasmic reticulum protein retention receptor 2
RGD ID: 1312161
HGNC Page HGNC
Description: Exhibits KDEL sequence binding activity. Involved in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum. Localizes to Golgi membrane and endoplasmic reticulum membrane. Colocalizes with COPI-coated vesicle membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2; ELP-1; ELP1; ER lumen protein retaining receptor 2; ER lumen protein-retaining receptor 2; ERD-2-like protein; ERD2-like protein 1; ERD2.2; FLJ45532; KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2; KDEL receptor 2; OI21
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl76,445,953 - 6,484,190 (-)EnsemblGRCh38hg38GRCh38
GRCh3876,461,089 - 6,484,152 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3776,500,712 - 6,523,849 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh3776,500,720 - 6,523,783 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3676,467,237 - 6,490,374 (-)NCBINCBI36hg18NCBI36
Build 3476,275,509 - 6,296,940NCBI
Celera76,211,338 - 6,234,431 (+)NCBI
Cytogenetic Map7p22.1NCBI
HuRef76,373,518 - 6,395,670 (-)NCBIHuRef
CHM1_176,500,302 - 6,523,431 (-)NCBICHM1_1
CRA_TCAGchr7v276,547,172 - 6,570,287 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1316805   PMID:1325562   PMID:9118249   PMID:11752456   PMID:12071860   PMID:12477932   PMID:12690205   PMID:12853948   PMID:14702039   PMID:15489334   PMID:16344560   PMID:17353931  
PMID:18086916   PMID:19322201   PMID:21873635   PMID:23376485   PMID:24189400   PMID:25248455   PMID:25569479   PMID:25682866   PMID:25959826   PMID:25963833   PMID:26618866   PMID:26638075  
PMID:26687479   PMID:27025967   PMID:28205554   PMID:28611215   PMID:29117863   PMID:29615496   PMID:30621148   PMID:30760704   PMID:31342232   PMID:31678930   PMID:31732153   PMID:32645101  
PMID:32877691   PMID:33053334  


Genomics

Comparative Map Data
KDELR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl76,445,953 - 6,484,190 (-)EnsemblGRCh38hg38GRCh38
GRCh3876,461,089 - 6,484,152 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3776,500,712 - 6,523,849 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh3776,500,720 - 6,523,783 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3676,467,237 - 6,490,374 (-)NCBINCBI36hg18NCBI36
Build 3476,275,509 - 6,296,940NCBI
Celera76,211,338 - 6,234,431 (+)NCBI
Cytogenetic Map7p22.1NCBI
HuRef76,373,518 - 6,395,670 (-)NCBIHuRef
CHM1_176,500,302 - 6,523,431 (-)NCBICHM1_1
CRA_TCAGchr7v276,547,172 - 6,570,287 (-)NCBI
Kdelr2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395143,389,575 - 143,407,659 (+)NCBIGRCm39mm39
GRCm385143,403,820 - 143,421,904 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5143,403,838 - 143,421,901 (+)EnsemblGRCm38mm10GRCm38
MGSCv375144,165,499 - 144,182,955 (+)NCBIGRCm37mm9NCBIm37
MGSCv365144,165,505 - 144,182,947 (+)NCBImm8
Celera5140,450,973 - 140,468,362 (+)NCBICelera
Cytogenetic Map5G2NCBI
Kdelr2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21211,138,820 - 11,157,117 (-)NCBI
Rnor_6.0 Ensembl1213,192,453 - 13,210,758 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01213,192,452 - 13,210,758 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01215,232,465 - 15,250,771 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41211,498,420 - 11,513,595 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11211,524,186 - 11,543,482 (-)NCBI
Celera1212,932,160 - 12,950,458 (-)NCBICelera
Cytogenetic Map12p11NCBI
Kdelr2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546013,202,401 - 13,221,319 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546013,202,400 - 13,221,319 (+)NCBIChiLan1.0ChiLan1.0
KDELR2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.176,654,430 - 6,667,794 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v076,960,456 - 6,983,515 (+)NCBIMhudiblu_PPA_v0panPan3
KDELR2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl611,798,377 - 11,815,760 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1611,796,586 - 11,815,765 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Kdelr2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493676516,017 - 33,812 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KDELR2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl34,716,648 - 4,735,300 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.134,716,651 - 4,735,303 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
KDELR2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12815,671,314 - 15,694,192 (-)NCBI
ChlSab1.1 Ensembl2815,672,442 - 15,694,148 (-)Ensembl
Kdelr2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474030,853,252 - 30,875,730 (+)NCBI

Position Markers
SHGC-53741  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3776,513,750 - 6,513,920UniSTSGRCh37
Build 3676,480,275 - 6,480,445RGDNCBI36
Celera76,221,240 - 6,221,410RGD
Cytogenetic Map7p22.1UniSTS
HuRef76,385,770 - 6,385,940UniSTS
CRA_TCAGchr7v276,560,208 - 6,560,378UniSTS
TNG Radiation Hybrid Map73277.0UniSTS
STS-T98803  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3776,501,720 - 6,501,889UniSTSGRCh37
Build 3676,468,245 - 6,468,414RGDNCBI36
Celera76,233,258 - 6,233,423RGD
Cytogenetic Map7p22.1UniSTS
HuRef76,374,526 - 6,374,691UniSTS
CRA_TCAGchr7v276,548,180 - 6,548,345UniSTS
GeneMap99-GB4 RH Map749.91UniSTS
NCBI RH Map7147.2UniSTS
A002G37  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3776,500,747 - 6,500,922UniSTSGRCh37
Build 3676,467,272 - 6,467,447RGDNCBI36
Celera76,234,221 - 6,234,396RGD
Cytogenetic Map7p22.1UniSTS
HuRef76,373,553 - 6,373,728UniSTS
CRA_TCAGchr7v276,547,207 - 6,547,382UniSTS
GeneMap99-GB4 RH Map747.89UniSTS
Whitehead-RH Map736.5UniSTS
NCBI RH Map7147.2UniSTS
RH91356  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3776,513,988 - 6,514,126UniSTSGRCh37
Build 3676,480,513 - 6,480,651RGDNCBI36
Celera76,221,034 - 6,221,172RGD
Cytogenetic Map7p22.1UniSTS
HuRef76,386,008 - 6,386,146UniSTS
CRA_TCAGchr7v276,560,446 - 6,560,584UniSTS
GeneMap99-GB4 RH Map740.69UniSTS
D7S2139E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3776,500,743 - 6,500,966UniSTSGRCh37
Build 3676,467,268 - 6,467,491RGDNCBI36
Celera76,234,177 - 6,234,400RGD
Cytogenetic Map7p22.1UniSTS
HuRef76,373,549 - 6,373,772UniSTS
CRA_TCAGchr7v276,547,203 - 6,547,426UniSTS
D7S2873  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3776,500,776 - 6,500,963UniSTSGRCh37
Build 3676,467,301 - 6,467,488RGDNCBI36
Celera76,234,180 - 6,234,367RGD
Cytogenetic Map7p22.1UniSTS
HuRef76,373,582 - 6,373,769UniSTS
CRA_TCAGchr7v276,547,236 - 6,547,423UniSTS
Whitehead-YAC Contig Map7 UniSTS
A002F46  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3776,501,386 - 6,501,546UniSTSGRCh37
Build 3676,467,911 - 6,468,071RGDNCBI36
Cytogenetic Map7p22.1UniSTS
HuRef76,374,192 - 6,374,352UniSTS
CRA_TCAGchr7v276,547,846 - 6,548,006UniSTS
GeneMap99-GB4 RH Map742.0UniSTS
Whitehead-RH Map736.8UniSTS
D7S2246  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3776,501,447 - 6,501,597UniSTSGRCh37
Build 3676,467,972 - 6,468,122RGDNCBI36
Celera76,233,546 - 6,233,696RGD
Cytogenetic Map7p22.1UniSTS
HuRef76,374,253 - 6,374,403UniSTS
CRA_TCAGchr7v276,547,907 - 6,548,057UniSTS
GeneMap99-GB4 RH Map740.69UniSTS
Whitehead-RH Map737.5UniSTS
Whitehead-YAC Contig Map7 UniSTS
RH48479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3776,512,865 - 6,512,956UniSTSGRCh37
Build 3676,479,390 - 6,479,481RGDNCBI36
Celera76,222,204 - 6,222,295RGD
Cytogenetic Map7p22.1UniSTS
HuRef76,384,885 - 6,384,976UniSTS
CRA_TCAGchr7v276,559,323 - 6,559,414UniSTS
GeneMap99-GB4 RH Map740.06UniSTS
NCBI RH Map7133.7UniSTS
D7S2768  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3776,502,383 - 6,502,489UniSTSGRCh37
Build 3676,468,908 - 6,469,014RGDNCBI36
Celera76,232,658 - 6,232,764RGD
Cytogenetic Map7p22.1UniSTS
HuRef76,375,185 - 6,375,291UniSTS
CRA_TCAGchr7v276,548,839 - 6,548,945UniSTS
TNG Radiation Hybrid Map73257.0UniSTS
Stanford-G3 RH Map7261.0UniSTS
NCBI RH Map7149.8UniSTS
GeneMap99-G3 RH Map7261.0UniSTS
SHGC-55953  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3776,500,742 - 6,500,872UniSTSGRCh37
Build 3676,467,267 - 6,467,397RGDNCBI36
Celera76,234,271 - 6,234,401RGD
Cytogenetic Map7p22.1UniSTS
HuRef76,373,548 - 6,373,678UniSTS
CRA_TCAGchr7v276,547,202 - 6,547,332UniSTS
GeneMap99-GB4 RH Map741.79UniSTS
Whitehead-RH Map737.8UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR19Ahsa-miR-19a-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:1296
Count of miRNA genes:762
Interacting mature miRNAs:868
Transcripts:ENST00000258739, ENST00000382267, ENST00000454368, ENST00000462052, ENST00000463747, ENST00000490996
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 1 5 1 1
Medium 2439 2865 1726 624 1832 465 4357 2183 3644 418 1455 1612 174 1 1204 2788 6 2
Low 126 118 13 90 1
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000258739   ⟹   ENSP00000258739
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl76,461,089 - 6,484,152 (-)Ensembl
RefSeq Acc Id: ENST00000382267   ⟹   ENSP00000371702
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl76,469,654 - 6,484,149 (-)Ensembl
RefSeq Acc Id: ENST00000454368
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl76,461,762 - 6,470,406 (-)Ensembl
RefSeq Acc Id: ENST00000462052
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl76,474,080 - 6,484,143 (-)Ensembl
RefSeq Acc Id: ENST00000463747
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl76,445,953 - 6,484,190 (-)Ensembl
RefSeq Acc Id: ENST00000490996   ⟹   ENSP00000420501
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl76,462,872 - 6,484,057 (-)Ensembl
RefSeq Acc Id: NM_001100603   ⟹   NP_001094073
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3876,461,089 - 6,484,152 (-)NCBI
GRCh3776,500,712 - 6,523,849 (-)RGD
Build 3676,467,237 - 6,490,374 (-)NCBI Archive
Celera76,211,338 - 6,234,431 (+)RGD
HuRef76,373,518 - 6,395,670 (-)RGD
CHM1_176,500,302 - 6,523,431 (-)NCBI
CRA_TCAGchr7v276,547,172 - 6,570,287 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_006854   ⟹   NP_006845
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3876,461,089 - 6,484,152 (-)NCBI
GRCh3776,500,712 - 6,523,849 (-)RGD
Build 3676,467,237 - 6,490,374 (-)NCBI Archive
Celera76,211,338 - 6,234,431 (+)RGD
HuRef76,373,518 - 6,395,670 (-)RGD
CHM1_176,500,302 - 6,523,431 (-)NCBI
CRA_TCAGchr7v276,547,172 - 6,570,287 (-)ENTREZGENE
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006845   ⟸   NM_006854
- Peptide Label: isoform 1
- UniProtKB: P33947 (UniProtKB/Swiss-Prot),   A0A024QZT7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001094073   ⟸   NM_001100603
- Peptide Label: isoform 2
- UniProtKB: P33947 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000420501   ⟸   ENST00000490996
RefSeq Acc Id: ENSP00000258739   ⟸   ENST00000258739
RefSeq Acc Id: ENSP00000371702   ⟸   ENST00000382267

Promoters
RGD ID:6805838
Promoter ID:HG_KWN:56225
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000324384
Position:
Human AssemblyChrPosition (strand)Source
Build 3676,476,301 - 6,476,801 (-)MPROMDB
RGD ID:6805837
Promoter ID:HG_KWN:56226
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000324388
Position:
Human AssemblyChrPosition (strand)Source
Build 3676,480,336 - 6,480,836 (-)MPROMDB
RGD ID:7209897
Promoter ID:EPDNEW_H10694
Type:initiation region
Name:KDELR2_1
Description:KDEL endoplasmic reticulum protein retention receptor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3876,484,152 - 6,484,212EPDNEW
RGD ID:6805445
Promoter ID:HG_KWN:56227
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001100603,   OTTHUMT00000059424,   OTTHUMT00000324385,   OTTHUMT00000324386,   OTTHUMT00000324387,   UC003SQD.2
Position:
Human AssemblyChrPosition (strand)Source
Build 3676,490,076 - 6,490,576 (-)MPROMDB
RGD ID:6853018
Promoter ID:EP74330
Type:initiation region
Name:HS_KDELR2
Description:KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention 2ceptor 2.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 3676,490,318 - 6,490,378EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1 copy number loss See cases [RCV000050923] Chr7:6106402..11012657 [GRCh38]
Chr7:6146033..11052284 [GRCh37]
Chr7:6112559..11018809 [NCBI36]
Chr7:7p22.1-21.3		 pathogenic
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1		 pathogenic
GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1 copy number loss See cases [RCV000052256] Chr7:5062000..6692258 [GRCh38]
Chr7:5101631..6731889 [GRCh37]
Chr7:5068157..6698414 [NCBI36]
Chr7:7p22.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3 copy number gain See cases [RCV000053408] Chr7:4876621..6492003 [GRCh38]
Chr7:4916252..6531634 [GRCh37]
Chr7:4882778..6498159 [NCBI36]
Chr7:7p22.1		 uncertain significance
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|See cases [RCV000053529] Chr7:54185..8274834 [GRCh38]
Chr7:54185..8314464 [GRCh37]
Chr7:149268..8280989 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3 copy number gain See cases [RCV000515563] Chr7:2789546..9066894 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3 copy number gain See cases [RCV000136649] Chr7:5682209..27230311 [GRCh38]
Chr7:5721840..27269930 [GRCh37]
Chr7:5688366..27236455 [NCBI36]
Chr7:7p22.1-15.2		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3 copy number gain See cases [RCV000136731] Chr7:54185..6638027 [GRCh38]
Chr7:54185..6677658 [GRCh37]
Chr7:149268..6644183 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 copy number gain See cases [RCV000137524] Chr7:45130..7252065 [GRCh38]
Chr7:45130..7291696 [GRCh37]
Chr7:140213..7258221 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.1(chr7:5331115-6751518)x3 copy number gain See cases [RCV000139037] Chr7:5331115..6751518 [GRCh38]
Chr7:5370746..6791149 [GRCh37]
Chr7:5337272..6757674 [NCBI36]
Chr7:7p22.1		 likely pathogenic
GRCh38/hg38 7p22.1(chr7:6213720-6697571)x3 copy number gain See cases [RCV000140742] Chr7:6213720..6697571 [GRCh38]
Chr7:6253351..6737202 [GRCh37]
Chr7:6219876..6703727 [NCBI36]
Chr7:7p22.1		 uncertain significance
GRCh38/hg38 7p22.1(chr7:6257137-6575271)x1 copy number loss See cases [RCV000142488] Chr7:6257137..6575271 [GRCh38]
Chr7:6296768..6614902 [GRCh37]
Chr7:6263293..6581427 [NCBI36]
Chr7:7p22.1		 uncertain significance
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:6202675-6579535)x3 copy number gain See cases [RCV000240466] Chr7:6202675..6579535 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 copy number gain See cases [RCV000449446] Chr7:183556..12746636 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 copy number gain See cases [RCV000449347] Chr7:43360..17656861 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3		 pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3 copy number gain See cases [RCV000511909] Chr7:4839046..7110343 [GRCh37]
Chr7:7p22.1		 likely pathogenic
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3 copy number gain See cases [RCV000511772] Chr7:43360..14664158 [GRCh37]
Chr7:7p22.3-21.2		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3 copy number gain See cases [RCV000510950] Chr7:43360..12098696 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3 copy number gain See cases [RCV000512505] Chr7:43360..11567351 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:6037640-6540147)x3 copy number gain not provided [RCV000682851] Chr7:6037640..6540147 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3 copy number gain not provided [RCV000682900] Chr7:4388620..7302293 [GRCh37]
Chr7:7p22.2-21.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:6520676-6753050)x1 copy number loss not provided [RCV000746424] Chr7:6520676..6753050 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 copy number gain not provided [RCV000746277] Chr7:10239..13116278 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:6465815-6601692)x1 copy number loss not provided [RCV000845595] Chr7:6465815..6601692 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:6290521-6535060)x3 copy number gain not provided [RCV000849690] Chr7:6290521..6535060 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:6440248-6621886)x3 copy number gain not provided [RCV000849056] Chr7:6440248..6621886 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:6107516-6567122)x1 copy number loss not provided [RCV001005901] Chr7:6107516..6567122 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:6517699-7294602)x3 copy number gain not provided [RCV000846638] Chr7:6517699..7294602 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3 copy number gain not provided [RCV001005891] Chr7:1648373..10627513 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:6394921-6762394)x3 copy number gain not provided [RCV001005903] Chr7:6394921..6762394 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:5919587-6762394)x3 copy number gain not provided [RCV001259436] Chr7:5919587..6762394 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_006854.4(KDELR2):c.34C>G (p.His12Asp) single nucleotide variant OSTEOGENESIS IMPERFECTA, TYPE XXI [RCV001270696] Chr7:6484024 [GRCh38]
Chr7:6523655 [GRCh37]
Chr7:7p22.1		 pathogenic
GRCh37/hg19 7p22.1(chr7:6183858-7137555)x3 copy number gain not provided [RCV001259435] Chr7:6183858..7137555 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_006854.4(KDELR2):c.448dup (p.His150fs) duplication OSTEOGENESIS IMPERFECTA, TYPE XXI [RCV001270695] Chr7:6466226..6466227 [GRCh38]
Chr7:6505857..6505858 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_006854.4(KDELR2):c.398C>T (p.Pro133Leu) single nucleotide variant OSTEOGENESIS IMPERFECTA, TYPE XXI [RCV001270697] Chr7:6466277 [GRCh38]
Chr7:6505908 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_006854.4(KDELR2):c.360G>A (p.Trp120Ter) single nucleotide variant OSTEOGENESIS IMPERFECTA, TYPE XXI [RCV001270698] Chr7:6466315 [GRCh38]
Chr7:6505946 [GRCh37]
Chr7:7p22.1		 pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6305 AgrOrtholog
COSMIC KDELR2 COSMIC
Ensembl Genes ENSG00000136240 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000258739 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000371702 UniProtKB/TrEMBL
  ENSP00000420501 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000258739 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000382267 UniProtKB/TrEMBL
  ENST00000490996 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000136240 GTEx
HGNC ID HGNC:6305 ENTREZGENE
Human Proteome Map KDELR2 Human Proteome Map
InterPro ER_ret_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11014 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 11014 ENTREZGENE
OMIM 609024 OMIM
  619131 OMIM
PANTHER PTHR10585 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ER_lumen_recept UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30084 PharmGKB
PRINTS ERLUMENR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ER_LUMEN_RECEPTOR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ER_LUMEN_RECEPTOR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024QZT7 ENTREZGENE, UniProtKB/TrEMBL
  ERD22_HUMAN UniProtKB/Swiss-Prot
  H7BYF7_HUMAN UniProtKB/TrEMBL
  P33947 ENTREZGENE
UniProt Secondary A4D2P4 UniProtKB/Swiss-Prot
  Q6IPC5 UniProtKB/Swiss-Prot
  Q96E30 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 KDELR2  KDEL endoplasmic reticulum protein retention receptor 2    KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2  Symbol and/or name change 5135510 APPROVED
2011-09-01 KDELR2  KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2  KDELR2  KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2  Symbol and/or name change 5135510 APPROVED