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Gene

KDELR2

KDEL endoplasmic reticulum protein retention receptor 2

Summary

Cytogenetic location
7p22.1
Coordinates
Chromosome 7: 6,461,089–6,484,152 (GRCh38)
Exons
5 exons across 23.1 kb
Protein
212 amino acids
Also known as
ELP-1, ERD2.2
MANE Select transcript
ENST00000258739.9NM_006854.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Osteogenesis Imperfecta

    • A group of inherited connective tissue disorders causing fragile bones that break easily, often with blue sclerae, hearing loss and dental problems.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Cyclic IV bisphosphonates (pamidronate, zoledronate); orthopedic rodding of long bones; physical therapy; denosumab (in clinical use for pediatric OI); romosozumab (in development); hearing monitoring; dental management for dentinogenesis imperfecta

How KDELR2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where KDELR2 sits. KDELR2 and 18 genes near it on chromosome 7, from 5,972,621 to 6,972,620.Chromosome 77p22.1p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.36 Mb6.2 Mb6.4 Mb6.6 Mb6.8 MbPMS2: 5,970,925–6,009,130, reverse strandPMS2AIMP2: 6,009,226–6,024,655, forward strandAIMP2EIF2AK1: 6,022,247–6,059,240, reverse strandEIF2AK1ANKRD61: 6,031,376–6,036,552, forward strandANKRD61USP42: 6,104,755–6,164,429, forward strandUSP42CYTH3: 6,148,751–6,272,677, reverse strandCYTH3FAM220A: 6,329,409–6,348,981, reverse strandFAM220ASMIM10L3: 6,329,409–6,348,967, reverse strandSMIM10L3RAC1: 6,374,098–6,404,016, forward strandRAC1DAGLB: 6,406,395–6,484,190, reverse strandDAGLBKDELR2: 6,461,089–6,484,152, reverse strandKDELR2GRID2IP: 6,496,778–6,551,461, reverse strandGRID2IPZDHHC4: 6,577,405–6,589,374, forward strandZDHHC4INTS15: 6,589,564–6,608,785, forward strandINTS15ZNF853: 6,615,305–6,624,290, forward strandZNF853ZNF316: 6,637,298–6,658,279, forward strandZNF316ZNF12: 6,688,433–6,706,979, reverse strandZNF12RSPH10B2: 6,754,101–6,799,365, forward strandRSPH10B2CCZ1B: 6,794,134–6,826,770, reverse strandCCZ1BDiagram of KDELR2: 5 exons on the reverse strand of chromosome 7Exon 4: 1 known disease-causing siteExon 5: 6,461,089–6,463,175, 2,087 basesExon 4: 6,466,071–6,466,323, 253 basesExon 3: 6,469,596–6,469,754, 159 basesExon 2: 6,474,184–6,474,284, 101 basesExon 1: 6,483,967–6,484,152, 186 bases543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.8 kb of the gene's 23.1 kb; 639 of those bases code for the protein.

How a genome test reads KDELR2

1

position in KDELR2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 23.1 kb of KDELR2, introns included, not only the 2.8 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). KDELR2 gene: KDEL endoplasmic reticulum protein retention receptor 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/kdelr2

Vancouver

Dante Labs. KDELR2 gene: KDEL endoplasmic reticulum protein retention receptor 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kdelr2

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