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Gene

RDH5

retinol dehydrogenase 5

Summary

Cytogenetic location
12q13.2
Coordinates
Chromosome 12: 55,720,393–55,724,705 (GRCh38)
Exons
5 exons across 4.3 kb
Protein
318 amino acids
Also known as
HSD17B9, SDR9C5
Previous symbols
RDH1
MANE Select transcript
ENST00000257895.10NM_002905.5
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.

      • 4 GenCC submitters rate 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.

      • 4 GenCC submitters rate it definitive or strong
      Actionability

      Regular eye examinations help detect complications and support planning.

  • Retinitis Pigmentosa

    • RLBP1-Related RetinopathyAutosomal recessive

      A retinal dystrophy caused by changes in the RLBP1 gene.

      • 4 GenCC submitters rate it definitive or strong

How RDH5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where RDH5 sits. RDH5 and 43 genes near it on chromosome 12, from 55,222,549 to 56,222,548.Chromosome 1212q13.2p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3355.4 Mb55.6 Mb55.8 Mb56 Mb56.2 MbOR6C74: 55,244,609–55,256,625, forward strandOR6C74OR6C6: 55,293,988–55,296,569, reverse strandOR6C6OR6C1: 55,314,343–55,322,364, forward strandOR6C1OR6C3: 55,330,043–55,332,687, forward strandOR6C3OR6C75: 55,362,975–55,369,279, forward strandOR6C75OR6C65: 55,400,529–55,401,467, forward strandOR6C65OR6C76: 55,426,254–55,427,192, forward strandOR6C76OR6C2: 55,444,069–55,453,347, forward strandOR6C2OR6C70: 55,469,200–55,470,138, reverse strandOR6C70OR6C68: 55,492,378–55,493,316, forward strandOR6C68OR6C4: 55,549,602–55,555,832, forward strandOR6C4OR2AP1: 55,572,468–55,575,612, forward strandOR2AP1OR10P1: 55,636,892–55,637,833, forward strandOR10P1ITGA7: 55,679,139–55,716,404, reverse strandTMT1B: 55,681,445–55,695,748, forward strandBLOC1S1: 55,715,911–55,720,087, forward strandBLOC1S1: 55,716,036–55,724,703, forward strandRDH5: 55,720,393–55,724,705, forward strandRDH5CD63: 55,723,511–55,737,367, reverse strandCD63GDF11: 55,743,122–55,757,264, forward strandSARNP: 55,751,195–55,817,912, reverse strandSARNP: 55,757,275–55,827,546, reverse strandORMDL2: 55,818,034–55,824,097, forward strandORMDL2DNAJC14: 55,818,839–55,830,824, reverse strandDNAJC14MMP19: 55,835,433–55,843,005, reverse strandPYM1: 55,901,413–55,932,618, reverse strandPYM1DGKA: 55,927,319–55,954,027, forward strandDGKAPMEL: 55,954,104–55,973,317, reverse strandPMELCDK2: 55,966,781–55,972,789, forward strandCDK2RAB5B: 55,973,859–55,996,683, forward strandRAB5BSUOX: 55,996,855–56,006,641, forward strandSUOXIKZF4: 56,007,392–56,038,435, forward strandIKZF4RPS26: 56,041,351–56,044,697, forward strandRPS26ERBB3: 56,076,799–56,103,505, forward strandERBB3: 56,101,331–56,109,289, forward strandPA2G4: 56,104,349–56,116,329, forward strandPA2G4RPL41: 56,116,585–56,117,967, forward strandRPL41ZC3H10: 56,118,243–56,127,514, forward strandESYT1: 56,118,250–56,150,107, forward strandMYL6B: 56,151,966–56,159,647, forward strandMYL6: 56,158,322–56,166,572, forward strandMYL6SMARCC2: 56,162,359–56,189,587, reverse strandRNF41: 56,202,179–56,224,275, reverse strandRNF41NABP2: 56,221,978–56,229,860, forward strandNABP2Diagram of RDH5: 5 exons on the forward strand of chromosome 12Exon 2: 11 known disease-causing sitesExon 3: 12 known disease-causing sitesExon 4: 8 known disease-causing sitesExon 5: 7 known disease-causing sitesExon 1: 55,720,393–55,720,517, 125 basesExon 2: 55,721,153–55,721,494, 342 basesExon 3: 55,721,689–55,721,947, 259 basesExon 4: 55,723,886–55,724,049, 164 basesExon 5: 55,724,322–55,724,705, 384 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 1.3 kb of the gene's 4.3 kb; 957 of those bases code for the protein.

Sequencing RDH5

3Low

How hard RDH5 is to sequence with short reads, out of 100

  • Mappability0%
  • Homology0%
  • Repeats6.9%
  • GC content17%
  • Reference coverage0%

38

positions in RDH5 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 4.3 kb of RDH5, introns included, not only the 1.3 kb of exons.

Genes linked to the same conditions

Traits linked to RDH5

The Human Phenotype Ontology lists these as features of the rare conditions RDH5 can cause. Each trait's page lists the other genes linked to it.

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.). RDH5 gene: retinol dehydrogenase 5. Retrieved 17 October 2026, from https://dantelabs.com/genes/rdh5

Vancouver

Dante Labs. RDH5 gene: retinol dehydrogenase 5 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rdh5

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