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Gene

RSPH3

radial spoke head 3

Summary

Cytogenetic location
6q25.3
Coordinates
Chromosome 6: 158,972,871–159,000,202 (GRCh38)
Exons
8 exons across 27.3 kb
Protein
418 amino acids
Inheritance
Autosomal recessive
Also known as
dJ111C20.1, RSP3
Previous symbols
RSHL2
MANE Select transcript
ENST00000367069.7NM_031924.8
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

  • Primary Ciliary Dyskinesia

    • Autosomal recessive

      A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).

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

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How RSPH3 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 RSPH3 sits. RSPH3 and 7 genes near it on chromosome 6, from 158,486,537 to 159,486,536.Chromosome 66q25.3p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q27158.6 Mb158.8 Mb159 Mb159.2 Mb159.4 MbTULP4: 158,232,236–158,511,828, forward strandTULP4TMEM181: 158,536,436–158,635,519, forward strandTMEM181DYNLT1: 158,612,721–158,644,771, reverse strandDYNLT1SYTL3: 158,644,387–158,768,361, forward strandSYTL3EZR: 158,765,738–158,819,418, reverse strandEZRRSPH3: 158,972,871–159,000,202, reverse strandRSPH3TAGAP: 159,034,481–159,095,823, reverse strandTAGAPFNDC1: 159,169,353–159,272,112, forward strandFNDC1Diagram of RSPH3: 8 exons on the reverse strand of chromosome 6Exon 6: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 3: 2 known disease-causing sitesExon 2: 1 known disease-causing siteExon 1: 11 known disease-causing sitesExon 8: 158,972,871–158,977,848, 4,978 basesExon 7: 158,978,260–158,978,346, 87 basesExon 6: 158,980,774–158,980,936, 163 basesExon 5: 158,982,485–158,982,688, 204 basesExon 4: 158,983,662–158,983,807, 146 basesExon 3: 158,986,280–158,986,421, 142 basesExon 2: 158,993,839–158,993,926, 88 basesExon 1: 158,999,435–159,000,202, 768 bases876543215′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 6.6 kb of the gene's 27.3 kb; 1,257 of those bases code for the protein.

How a genome test reads RSPH3

22

positions in RSPH3 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 27.3 kb of RSPH3, introns included, not only the 6.6 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.). RSPH3 gene: radial spoke head 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/rsph3

Vancouver

Dante Labs. RSPH3 gene: radial spoke head 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/rsph3

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