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Gene

REEP2

receptor accessory protein 2

Summary

Cytogenetic location
5q31.2
Coordinates
Chromosome 5: 138,439,057–138,446,965 (GRCh38)
Exons
8 exons across 7.9 kb
Protein
254 amino acids
Also known as
SGC32445, SPG72, Yip2d
Previous symbols
C5orf19
MANE Select transcript
ENST00000378339.7NM_001271803.2
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

  • Hereditary Spastic Paraplegia

    • Hereditary Spastic Paraplegia 72

      Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene.

      • 2 GenCC submitters rate it definitive or strong
    • Hereditary Spastic Paraplegia (All Types)

      One of 66 genes linked to it

      Umbrella term covering all hereditary spastic paraplegias, including SPG4 (SPAST), the most common dominant form, and SPG5A, SPG6, SPG10, SPG18, SPG30 and SPG31.

      • 2 GenCC submitters rate it definitive or strong

How REEP2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where REEP2 sits. REEP2 and 16 genes near it on chromosome 5, from 137,943,011 to 138,943,010.Chromosome 55q31.2p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3138 Mb138.2 Mb138.4 Mb138.6 Mb138.8 MbFAM13B: 137,937,960–138,051,961, reverse strandFAM13BWNT8A: 138,083,990–138,092,365, forward strandWNT8ANME5: 138,114,412–138,139,443, reverse strandNME5BRD8: 138,139,770–138,178,988, reverse strandBRD8KIF20A: 138,178,715–138,188,171, forward strandKIF20ACDC23: 138,180,663–138,213,346, reverse strandCDC23GFRA3: 138,252,380–138,274,621, reverse strandGFRA3CDC25C: 138,285,251–138,338,355, reverse strandCDC25CFAM53C: 138,331,935–138,349,729, forward strandFAM53CKDM3B: 138,352,676–138,437,028, forward strandKDM3BREEP2: 138,439,057–138,446,965, forward strandREEP2EGR1: 138,465,190–138,471,204, forward strandEGR1ETF1: 138,506,093–138,543,239, reverse strandETF1HSPA9: 138,553,756–138,575,675, reverse strandHSPA9CTNNA1: 138,610,967–138,935,039, forward strandCTNNA1LRRTM2: 138,868,921–138,875,383, reverse strandLRRTM2SIL1: 138,886,914–139,293,557, reverse strandSIL1Diagram of REEP2: 8 exons on the forward strand of chromosome 5Exon 3: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 1: 138,439,057–138,439,240, 184 basesExon 2: 138,441,016–138,441,088, 73 basesExon 3: 138,441,385–138,441,461, 77 basesExon 4: 138,444,415–138,444,535, 121 basesExon 5: 138,444,754–138,444,867, 114 basesExon 6: 138,445,228–138,445,375, 148 basesExon 7: 138,445,468–138,445,598, 131 basesExon 8: 138,445,683–138,446,965, 1,283 bases123456785′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 2.1 kb of the gene's 7.9 kb; 765 of those bases code for the protein.

How a genome test reads REEP2

4

positions in REEP2 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 7.9 kb of REEP2, introns included, not only the 2.1 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.). REEP2 gene: receptor accessory protein 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/reep2

Vancouver

Dante Labs. REEP2 gene: receptor accessory protein 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/reep2

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