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Gene

IDH3B

isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta

Summary

Cytogenetic location
20p13
Coordinates
Chromosome 20: 2,658,395–2,664,216 (GRCh38)
Exons
12 exons across 5.8 kb
Protein
385 amino acids
Also known as
RP46
MANE Select transcript
ENST00000380843.9NM_006899.5
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

    • Idh3b-Related Retinopathy

      An inherited retinopathy caused by bi-allelic variants in the IDH3B gene.

      • 3 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.

      • 3 GenCC submitters rate it definitive or strong

How IDH3B is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 20, with a bracket where IDH3B sits. IDH3B and 23 genes near it on chromosome 20, from 2,161,306 to 3,161,305.Chromosome 2020p13p13p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12q13.11q13.12q13.13q13.2q13.31q13.32q13.332.2 Mb2.4 Mb2.6 Mb2.8 Mb3 MbSTK35: 2,101,767–2,177,038, forward strandSTK35: 2,207,328–2,341,059, forward strandTGM3: 2,295,994–2,341,177, forward strandTGM3TGM6: 2,380,901–2,432,753, forward strandTGM6SNRPB: 2,461,634–2,470,884, reverse strandSNRPB: 2,467,212–2,508,907, reverse strandZNF343: 2,471,467–2,525,028, reverse strandZNF343TMC2: 2,536,573–2,643,580, forward strandTMC2NOP56: 2,652,460–2,658,396, forward strandNOP56IDH3B: 2,658,395–2,664,216, reverse strandIDH3BEBF4: 2,692,724–2,760,228, forward strandEBF4CPXM1: 2,794,069–2,800,835, reverse strandCPXM1: 2,814,968–2,818,066, forward strandC20orf141: 2,814,987–2,815,833, forward strandC20orf141TMEM239: 2,816,302–2,820,284, forward strandTMEM239PCED1A: 2,835,070–2,841,190, reverse strandVPS16: 2,840,689–2,867,031, forward strandVPS16PTPRA: 2,870,754–3,039,247, forward strandPTPRAGNRH2: 3,042,814–3,045,747, forward strandGNRH2MRPS26: 3,046,016–3,048,254, forward strandMRPS26OXT: 3,071,476–3,072,517, forward strandOXTAVP: 3,082,556–3,084,724, reverse strandAVPUBOX5: 3,107,573–3,160,196, reverse strandUBOX5FASTKD5: 3,146,519–3,160,196, reverse strandFASTKD5Diagram of IDH3B: 12 exons on the reverse strand of chromosome 20Exon 10: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 2: 1 known disease-causing siteExon 1: 1 known disease-causing siteExon 12: 2,658,395–2,658,837, 443 basesExon 11: 2,659,525–2,659,585, 61 basesExon 10: 2,659,699–2,659,793, 95 basesExon 9: 2,660,030–2,660,176, 147 basesExon 8: 2,660,263–2,660,365, 103 basesExon 7: 2,660,457–2,660,590, 134 basesExon 6: 2,660,697–2,660,829, 133 basesExon 5: 2,660,909–2,660,969, 61 basesExon 4: 2,663,446–2,663,566, 121 basesExon 3: 2,663,660–2,663,758, 99 basesExon 2: 2,663,925–2,664,005, 81 basesExon 1: 2,664,153–2,664,216, 64 bases1211109876543215′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 1.5 kb of the gene's 5.8 kb; 1,158 of those bases code for the protein.

How a genome test reads IDH3B

7

positions in IDH3B 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 5.8 kb of IDH3B, introns included, not only the 1.5 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.). IDH3B gene: isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta. Retrieved 17 October 2026, from https://dantelabs.com/genes/idh3b

Vancouver

Dante Labs. IDH3B gene: isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/idh3b

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