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Gene

PRPH

peripherin

Summary

Cytogenetic location
12q13.12
Coordinates
Chromosome 12: 49,295,147–49,298,686 (GRCh38)
Exons
9 exons across 3.5 kb
Protein
470 amino acids
Also known as
PRPH1
Previous symbols
NEF4
MANE Select transcript
ENST00000257860.9NM_006262.4
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 reports relevant to this gene

No Genome Test report reads PRPH yet. The test sequences your whole genome, so your data includes it all the same.

How PRPH is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 12, with a bracket where PRPH sits. PRPH and 30 genes near it on chromosome 12, from 48,796,917 to 49,796,916.Chromosome 1212q13.12p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3348.8 Mb49 Mb49.2 Mb49.4 Mb49.6 MbCACNB3: 48,813,794–48,828,942, forward strandCACNB3DDX23: 48,829,756–48,852,842, reverse strandDDX23RND1: 48,857,134–48,865,870, reverse strandRND1ARF3: 48,903,141–48,957,531, reverse strandARF3: 48,903,503–48,957,365, reverse strandDRC2: 48,904,105–48,931,840, forward strandDRC2FKBP11: 48,921,518–48,927,909, reverse strandFKBP11WNT10B: 48,965,185–48,972,669, reverse strandWNT1: 48,978,322–48,982,620, forward strandWNT1DDN: 48,995,149–48,999,375, reverse strandDDNPRKAG1: 49,002,272–49,018,820, reverse strandPRKAG1: 49,002,274–49,024,075, reverse strandKMT2D: 49,018,975–49,060,794, reverse strandKMT2DRHEBL1: 49,064,675–49,070,127, reverse strandRHEBL1DHH: 49,086,656–49,094,807, reverse strandDHHLMBR1L: 49,096,550–49,110,900, reverse strandLMBR1LTUBA1B: 49,127,780–49,131,398, reverse strandTUBA1BTUBA1A: 49,184,146–49,189,324, reverse strandTUBA1ATUBA1C: 49,188,736–49,274,600, forward strandTUBA1CPRPH: 49,295,147–49,298,686, forward strandPRPHTROAP: 49,323,165–49,331,735, forward strandTROAPC1QL4: 49,332,409–49,337,227, reverse strandC1QL4DNAJC22: 49,345,607–49,357,546, forward strandDNAJC22SPATS2: 49,366,240–49,528,438, forward strandSPATS2KCNH3: 49,539,020–49,558,346, forward strandKCNH3MCRS1: 49,556,544–49,568,150, reverse strandMCRS1PRPF40B: 49,568,218–49,644,666, forward strandPRPF40BFAM186B: 49,582,885–49,605,639, reverse strandFAM186BFMNL3: 49,636,499–49,708,165, reverse strandFMNL3TMBIM6: 49,707,725–49,764,935, forward strandTMBIM6NCKAP5L: 49,790,615–49,828,750, reverse strandNCKAP5LDiagram of PRPH: 9 exons on the forward strand of chromosome 12Exon 4: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 1: 49,295,147–49,295,745, 599 basesExon 2: 49,296,178–49,296,238, 61 basesExon 3: 49,296,432–49,296,527, 96 basesExon 4: 49,296,889–49,297,056, 168 basesExon 5: 49,297,148–49,297,273, 126 basesExon 6: 49,297,357–49,297,577, 221 basesExon 7: 49,297,677–49,297,726, 50 basesExon 8: 49,297,958–49,298,037, 80 basesExon 9: 49,298,288–49,298,686, 399 bases1234567895′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 1.8 kb of the gene's 3.5 kb; 1,413 of those bases code for the protein.

How a genome test reads PRPH

4

positions in PRPH 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 3.5 kb of PRPH, introns included, not only the 1.8 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.
  • 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.). PRPH gene: peripherin. Retrieved 17 October 2026, from https://dantelabs.com/genes/prph

Vancouver

Dante Labs. PRPH gene: peripherin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/prph

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