The KDELR2 gene homepage

Osteogenesis Imperfecta Variant Database
General information
Gene symbol KDELR2
Gene name KDEL endoplasmic reticulum protein retention receptor 2
Chromosome 7
Chromosomal band p22.1
Imprinted Unknown
Genomic reference NC_000007.13
Transcript reference NM_001100603.1, NM_006854.3
Exon/intron information NM_001100603.1 exon/intron table, NM_006854.3 exon/intron table
Associated with diseases OI, OI21
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (5) Taco van Welzenis, Gerard Pals, Sonna Stolk, Raymond Dalgleish, and Dimitra Micha
Total number of public variants reported 16
Unique public DNA variants reported 8
Individuals with public variants 8
Hidden variants 4
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
This database is supported by Osteogenesis Imperfecta Federation Europe (OIFE)
Date created August 08, 2017
Date last updated November 01, 2022
Version KDELR2:221101

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001100603.1, NM_006854.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases
Osteogenesis Imperfecta Federation Europe (OIFE)
HGNC 6305
Entrez Gene 11014
PubMed articles KDELR2
OMIM - Gene 609024
OMIM - Diseases OI21 (osteogenesis imperfecta, type XXI (OI21))
GeneCards KDELR2
GeneTests KDELR2
Orphanet KDELR2

Active transcripts




NCBI ID     

NCBI Protein ID     

00025561 7 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2, transcript variant 1 NM_006854.3 NP_006845.1 16
00024641 7 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2, transcript variant 2 NM_001100603.1 NP_001094073.1 8

Copyright & disclaimer
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