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Gene

REEP6

receptor accessory protein 6

Summary

Cytogenetic location
19p13.3
Coordinates
Chromosome 19: 1,491,181–1,497,927 (GRCh38)
Exons
5 exons across 6.7 kb
Protein
184 amino acids
Also known as
DP1L1, FLJ25383, Yip2f, TB1
Previous symbols
C19orf32
MANE Select transcript
ENST00000233596.8NM_138393.4
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

  • Retinitis Pigmentosa

    • Reep6-Related Retinopathy

      Any retinopathy caused by variants in the REEP6 gene.

      • 2 GenCC submitters rate it definitive or strong

    • One of 77 genes linked to it

      A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.

      • 2 GenCC submitters rate it definitive or strong

How REEP6 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where REEP6 sits. REEP6 and 41 genes near it on chromosome 19, from 994,554 to 1,994,553.Chromosome 1919p13.3p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.431 Mb1.2 Mb1.4 Mb1.6 Mb1.8 MbWDR18: 984,248–998,438, forward strandWDR18GRIN3B: 1,000,419–1,009,732, forward strandGRIN3BTMEM259: 1,009,615–1,021,270, reverse strandTMEM259CNN2: 1,026,270–1,039,077, forward strandCNN2ABCA7: 1,039,997–1,065,572, forward strandABCA7ARHGAP45: 1,065,923–1,087,829, forward strandARHGAP45POLR2E: 1,085,104–1,095,486, reverse strandPOLR2EGPX4: 1,103,982–1,106,791, forward strandGPX4SBNO2: 1,107,634–1,174,295, reverse strandSBNO2STK11: 1,177,558–1,228,431, forward strandSTK11CBARP: 1,228,282–1,239,465, reverse strandATP5F1D: 1,241,734–1,244,828, forward strandMIDN: 1,248,316–1,259,145, forward strandCIRBP: 1,259,384–1,274,880, forward strandCIRBPFAM174C: 1,275,509–1,279,244, forward strandFAM174CFAM174C: 1,276,021–1,279,244, forward strandFAM174CEFNA2: 1,285,873–1,301,431, forward strandEFNA2PWWP3A: 1,354,293–1,378,434, forward strandPWWP3ANDUFS7: 1,383,527–1,395,590, forward strandNDUFS7GAMT: 1,397,026–1,401,731, reverse strandGAMTDAZAP1: 1,407,533–1,435,687, forward strandDAZAP1RPS15: 1,438,149–1,440,508, forward strandRPS15APC2: 1,446,302–1,473,244, forward strandC19orf25: 1,461,143–1,479,565, reverse strandC19orf25PCSK4: 1,481,428–1,490,752, reverse strandPCSK4REEP6: 1,491,181–1,497,927, forward strandREEP6ADAMTSL5: 1,503,045–1,513,604, reverse strandADAMTSL5PLK5: 1,507,978–1,536,046, forward strandMEX3D: 1,554,672–1,568,352, reverse strandMEX3DMBD3: 1,573,596–1,592,911, reverse strandMBD3: 1,578,339–1,605,445, reverse strandUQCR11: 1,593,987–1,605,500, reverse strandUQCR11TCF3: 1,609,291–1,652,911, reverse strandTCF3ONECUT3: 1,753,506–1,780,988, forward strandONECUT3ATP8B3: 1,781,761–1,812,295, reverse strandATP8B3REXO1: 1,815,248–1,848,493, reverse strandREXO1KLF16: 1,852,399–1,863,919, reverse strandKLF16ABHD17A: 1,876,810–1,885,618, reverse strandABHD17AADAT3: 1,905,214–1,913,448, forward strandADAT3SCAMP4: 1,905,214–1,926,013, forward strandSCAMP4CSNK1G2: 1,940,915–1,981,339, forward strandCSNK1G2BTBD2: 1,985,438–2,034,881, reverse strandBTBD2Diagram of REEP6: 5 exons on the forward strand of chromosome 19Exon 2: 1 known disease-causing siteExon 3: 4 known disease-causing sitesExon 4: 1 known disease-causing siteExon 1: 1,491,181–1,491,384, 204 basesExon 2: 1,495,294–1,495,387, 94 basesExon 3: 1,495,469–1,495,607, 139 basesExon 4: 1,496,285–1,496,453, 169 basesExon 5: 1,497,174–1,497,927, 754 bases123455′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 1.4 kb of the gene's 6.7 kb; 555 of those bases code for the protein.

How a genome test reads REEP6

10

positions in REEP6 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 6.7 kb of REEP6, introns included, not only the 1.4 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.). REEP6 gene: receptor accessory protein 6. Retrieved 17 October 2026, from https://dantelabs.com/genes/reep6

Vancouver

Dante Labs. REEP6 gene: receptor accessory protein 6 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/reep6

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