Skip to content
Use your HSA or FSA funds
Sequence your genome (opens in a new tab)

Gene

PRPH2

peripherin 2

Summary

Cytogenetic location
6p21.1
Coordinates
Chromosome 6: 42,696,598–42,722,597 (GRCh38)
Exons
3 exons across 26 kb
Protein
346 amino acids
Also known as
TSPAN22, rd2, CACD2
Previous symbols
RP7, RDS
MANE Select transcript
ENST00000230381.7NM_000322.5
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • Congenital Stationary Night Blindness

    • Fundus AlbipunctatusAutosomal recessive

      A form of stationary night blindness, usually caused by changes in both copies of RDH5, with many small white dots in the retina and slow adaptation to the dark.

      • 1 GenCC submitter rates it definitive or strong
      Actionability

      Knowing the cause helps avoid misdiagnosis as a progressive retinal dystrophy.

  • Hereditary Macular Dystrophies

    • PRPH2-Related RetinopathyAutosomal dominant

      A retinal condition caused by changes in PRPH2, which can cause pattern dystrophy, adult vitelliform dystrophy or wider retinal degeneration, even within one family.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      Actionability

      Regular eye examinations help detect complications and support planning.

  • Leber Congenital Amaurosis & RPE65-Related Retinopathy

    • Leber Congenital AmaurosisAutosomal recessive

      A group of inherited retinal dystrophies, caused by changes in genes such as CEP290, GUCY2D, CRB1, RPE65 and AIPL1, that cause severe vision loss, nystagmus and poor pupil responses in infancy.

      • 3 GenCC submitters rate it definitive or strong
      Actionability

      Confirming the gene can determine eligibility for gene-specific treatments and clinical trials, and informs family counselling.

  • Retinitis Pigmentosa

    • RLBP1-Related RetinopathyAutosomal recessive

      A retinal dystrophy caused by changes in the RLBP1 gene.

      • 1 GenCC submitter rates 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.

      • 3 GenCC submitters rate it definitive or strong

How PRPH2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 6, with a bracket where PRPH2 sits. PRPH2 and 22 genes near it on chromosome 6, from 42,209,598 to 43,209,597.Chromosome 66p21.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2742.4 Mb42.6 Mb42.8 Mb43 Mb43.2 MbMRPS10: 42,205,717–42,217,881, reverse strandMRPS10TRERF1: 42,224,931–42,452,225, reverse strandTRERF1UBR2: 42,563,969–42,693,505, forward strandUBR2PRPH2: 42,696,598–42,722,597, reverse strandPRPH2TBCC: 42,744,498–42,746,103, reverse strandTBCCBICRAL: 42,781,931–42,868,560, forward strandBICRALRPL7L1: 42,879,602–42,889,925, forward strandRPL7L1PEX39: 42,890,265–42,890,821, reverse strandPEX39PTCRA: 42,915,989–42,925,845, forward strandPTCRACNPY3: 42,928,975–42,940,217, forward strandCNPY3PEX6: 42,959,717–42,979,249, reverse strandPEX6GNMT: 42,960,268–42,970,699, forward strandGNMTPPP2R5D: 42,984,533–43,012,346, forward strandPPP2R5DMEA1: 43,011,143–43,016,868, reverse strandMEA1KLHDC3: 43,014,103–43,021,314, forward strandKLHDC3RRP36: 43,021,588–43,034,156, forward strandRRP36CUL7: 43,037,617–43,053,943, reverse strandKLC4: 43,040,777–43,075,099, forward strand: 43,051,066–43,058,185, reverse strandMRPL2: 43,054,029–43,059,464, reverse strandPTK7: 43,076,256–43,161,719, forward strandPTK7SRF: 43,170,910–43,181,506, forward strandSRFCUL9: 43,182,166–43,224,587, forward strandCUL9Diagram of PRPH2: 3 exons on the reverse strand of chromosome 6Exon 3: 13 known disease-causing sitesExon 2: 53 known disease-causing sitesExon 1: 43 known disease-causing sitesExon 3: 42,696,598–42,698,507, 1,910 basesExon 2: 42,704,365–42,704,611, 247 basesExon 1: 42,721,754–42,722,597, 844 bases3215′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 3 kb of the gene's 26 kb; 1,041 of those bases code for the protein.

Sequencing PRPH2

0Low

How hard PRPH2 is to sequence with short reads, out of 100

  • Mappability0%
  • Homology0%
  • Repeats0.9%
  • GC content0%
  • Reference coverage0%

115

positions in PRPH2 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 26 kb of PRPH2, introns included, not only the 3 kb of exons.

Genes linked to the same conditions

Traits linked to PRPH2

The Human Phenotype Ontology lists these as features of the rare conditions PRPH2 can cause. Each trait's page lists the other genes linked to it.

Abnormality of the eye

Show 86 more traits

External links

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 2026-10-17: 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 Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). PRPH2 gene: peripherin 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/prph2

Vancouver

Dante Labs. PRPH2 gene: peripherin 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/prph2

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test