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Gene

REEP1

receptor accessory protein 1

Summary

Cytogenetic location
2p11.2
Coordinates
Chromosome 2: 86,213,993–86,337,626 (GRCh38)
Exons
9 exons across 123.6 kb
Protein
284 amino acids
Also known as
FLJ13110, SPG31, Yip2a
Previous symbols
C2orf23
MANE Select transcript
ENST00000538924.7NM_001371279.1
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 reports relevant to this gene

  • Charcot-Marie-Tooth Disease

    • Distal Hereditary Motor Neuropathy

      Inherited neuropathies that mainly affect motor nerves, causing weakness and wasting of the hands and feet, including SORD-related neuropathy.

      • 2 GenCC submitters rate it definitive or strong

  • Spinal Muscular Atrophy

    • A group of disorders characterised by degeneration of spinal cord anterior horn cells, leading to progressive muscle weakness and atrophy.

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

      Gene therapy (onasemnogene abeparvovec), antisense oligonucleotide therapy (nusinersen), oral splicing modifier (risdiplam), supportive care

Broader groupings

  • Hereditary Spastic Paraplegia

    • 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.

      • 3 GenCC submitters rate it definitive or strong

How REEP1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where REEP1 sits. REEP1 and 11 genes near it on chromosome 2, from 85,775,810 to 86,775,809.Chromosome 22p11.2p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.385.8 Mb86 Mb86.2 Mb86.4 Mb86.6 MbATOH8: 85,751,344–85,794,266, forward strandATOH8ST3GAL5: 85,837,120–85,905,199, reverse strandST3GAL5POLR1A: 86,020,216–86,106,155, reverse strandPOLR1APTCD3: 86,106,223–86,142,157, forward strandPTCD3IMMT: 86,142,798–86,195,631, reverse strandIMMTMRPL35: 86,199,355–86,222,540, forward strandMRPL35REEP1: 86,213,993–86,337,626, reverse strandREEP1KDM3A: 86,440,647–86,492,716, forward strandKDM3ACHMP3: 86,502,688–86,563,507, reverse strandCHMP3RNF103-CHMP3: 86,505,668–86,721,122, reverse strandRNF103-CHMP3RNF103: 86,602,511–86,623,900, reverse strandRNF103RMND5A: 86,720,053–86,778,049, forward strandRMND5ADiagram of REEP1: 9 exons on the reverse strand of chromosome 2Exon 6: 6 known disease-causing sitesExon 5: 6 known disease-causing sitesExon 4: 11 known disease-causing sitesExon 3: 7 known disease-causing sitesExon 2: 9 known disease-causing sitesExon 1: 1 known disease-causing siteExon 9: 86,213,993–86,217,110, 3,118 basesExon 8: 86,219,970–86,220,121, 152 basesExon 7: 86,227,363–86,227,398, 36 basesExon 6: 86,232,625–86,232,802, 178 basesExon 5: 86,251,957–86,252,070, 114 basesExon 4: 86,254,694–86,254,814, 121 basesExon 3: 86,263,965–86,264,041, 77 basesExon 2: 86,282,170–86,282,242, 73 basesExon 1: 86,337,479–86,337,626, 148 bases9876543215′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 4 kb of the gene's 123.6 kb; 855 of those bases code for the protein.

How a genome test reads REEP1

60

positions in REEP1 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 123.6 kb of REEP1, introns included, not only the 4 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.). REEP1 gene: receptor accessory protein 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/reep1

Vancouver

Dante Labs. REEP1 gene: receptor accessory protein 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/reep1

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