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Gene

HEATR3

HEAT repeat containing 3

Summary

Cytogenetic location
16q12.1
Coordinates
Chromosome 16: 50,065,970–50,107,272 (GRCh38)
Exons
15 exons across 41.3 kb
Protein
680 amino acids
Inheritance
Autosomal dominant
Also known as
FLJ20718
MANE Select transcript
ENST00000299192.8NM_182922.4
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

  • Diamond-Blackfan Anemia

    • Autosomal dominant

      A congenital aregenerative and often macrocytic anemia with erythroblastopenia.

      • 2 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How HEATR3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where HEATR3 sits. HEATR3 and 6 genes near it on chromosome 16, from 49,586,621 to 50,586,620.Chromosome 1616q12.1p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.349.6 Mb49.8 Mb50 Mb50.2 Mb50.4 MbZNF423: 49,487,524–49,857,919, reverse strandZNF423CNEP1R1: 50,024,410–50,042,799, forward strandCNEP1R1HEATR3: 50,065,970–50,107,272, forward strandHEATR3TENT4B: 50,152,901–50,235,310, forward strandTENT4BADCY7: 50,244,699–50,318,607, forward strandADCY7BRD7: 50,313,487–50,369,059, reverse strandBRD7NKD1: 50,548,312–50,649,249, forward strandNKD1Diagram of HEATR3: 15 exons on the forward strand of chromosome 16Exon 2: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 1: 50,065,970–50,066,269, 300 basesExon 2: 50,066,367–50,066,539, 173 basesExon 3: 50,068,780–50,068,867, 88 basesExon 4: 50,070,178–50,070,290, 113 basesExon 5: 50,072,605–50,072,714, 110 basesExon 6: 50,075,571–50,075,711, 141 basesExon 7: 50,078,741–50,079,018, 278 basesExon 8: 50,083,937–50,084,027, 91 basesExon 9: 50,084,134–50,084,291, 158 basesExon 10: 50,084,569–50,084,651, 83 basesExon 11: 50,086,215–50,086,351, 137 basesExon 12: 50,094,705–50,094,793, 89 basesExon 13: 50,100,230–50,100,373, 144 basesExon 14: 50,102,259–50,102,435, 177 basesExon 15: 50,104,939–50,107,272, 2,334 bases1510155′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 4.4 kb of the gene's 41.3 kb; 2,043 of those bases code for the protein.

How a genome test reads HEATR3

2

positions in HEATR3 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 41.3 kb of HEATR3, introns included, not only the 4.4 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.). HEATR3 gene: HEAT repeat containing 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/heatr3

Vancouver

Dante Labs. HEATR3 gene: HEAT repeat containing 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/heatr3

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