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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | osteogenesis imperfecta type 21 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | osteogenesis imperfecta type 21 | | IAGP | | 7240710 | | OMIM | | |
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1. | GOA_HUMAN data from the GO Consortium |
2. | Pipeline to import KEGG annotations from KEGG into RGD |
3. | RGD automated import pipeline for gene-chemical interactions |
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 |
KDELR2 (Homo sapiens - human) |
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Kdelr2 (Mus musculus - house mouse) |
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Kdelr2 (Rattus norvegicus - Norway rat) |
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Kdelr2 (Chinchilla lanigera - long-tailed chinchilla) |
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KDELR2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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KDELR2 (Canis lupus familiaris - dog) |
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Kdelr2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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KDELR2 (Sus scrofa - pig) |
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KDELR2 (Chlorocebus sabaeus - African green monkey) |
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Kdelr2 (Heterocephalus glaber - naked mole-rat) |
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SHGC-53741 |
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STS-T98803 |
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A002G37 |
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RH91356 |
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D7S2139E |
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D7S2873 |
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A002F46 |
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D7S2246 |
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RH48479 |
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D7S2768 |
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SHGC-55953 |
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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. |
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 |
RefSeq Transcripts | NM_001100603 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_006854 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC072052 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK093917 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK124072 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK315702 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL547016 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AV660600 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC008081 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC012994 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC071982 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH236963 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH878731 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA713413 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M88458 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X63745 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000258739 ⟹ ENSP00000258739 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000382267 ⟹ ENSP00000371702 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000454368 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000462052 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000463747 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000490996 ⟹ ENSP00000420501 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001100603 ⟹ NP_001094073 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_006854 ⟹ NP_006845 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001094073 | (Get FASTA) | NCBI Sequence Viewer |
NP_006845 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH08081 | (Get FASTA) | NCBI Sequence Viewer |
AAH12994 | (Get FASTA) | NCBI Sequence Viewer | |
AAH71982 | (Get FASTA) | NCBI Sequence Viewer | |
AAS02002 | (Get FASTA) | NCBI Sequence Viewer | |
BAG38064 | (Get FASTA) | NCBI Sequence Viewer | |
CAA45277 | (Get FASTA) | NCBI Sequence Viewer | |
EAL23722 | (Get FASTA) | NCBI Sequence Viewer | |
EAW55029 | (Get FASTA) | NCBI Sequence Viewer | |
EAW55030 | (Get FASTA) | NCBI Sequence Viewer | |
EAW55031 | (Get FASTA) | NCBI Sequence Viewer | |
P33947 | (Get FASTA) | NCBI Sequence Viewer |
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 |
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: |
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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: |
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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: |
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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: |
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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: |
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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 |
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 |
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 |