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Gene

RSPH4A

radial spoke head component 4A

Summary

Cytogenetic location
6q22.1
Coordinates
Chromosome 6: 116,616,479–116,632,985 (GRCh38)
Exons
6 exons across 16.5 kb
Protein
716 amino acids
Inheritance
Autosomal recessive
Also known as
dJ412I7.1, FLJ37974, RSPH6B, CILD11
Previous symbols
RSHL3
MANE Select transcript
ENST00000229554.10NM_001010892.3
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 RSPH4A 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 RSPH4A sits. RSPH4A and 16 genes near it on chromosome 6, from 116,124,732 to 117,124,731.Chromosome 66q22.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q27116.2 Mb116.4 Mb116.6 Mb116.8 Mb117 MbNT5DC1: 116,100,804–116,249,497, forward strandNT5DC1COL10A1: 116,118,909–116,158,747, reverse strandCOL10A1TSPYL4: 116,249,964–116,254,075, reverse strandTSPYL4DSE: 116,253,604–116,444,861, forward strandDSETSPYL1: 116,267,760–116,279,930, reverse strandTSPYL1: 116,399,395–116,463,696, forward strandCALHM6: 116,461,365–116,466,082, forward strandCALHM6TRAPPC3L: 116,494,989–116,545,684, reverse strandTRAPPC3LCALHM5: 116,511,604–116,524,788, forward strandCALHM5CALHM4: 116,529,013–116,561,127, forward strandCALHM4RWDD1: 116,571,386–116,598,204, forward strandRWDD1RSPH4A: 116,616,479–116,632,985, forward strandRSPH4AZUP1: 116,635,616–116,668,816, reverse strandZUP1KPNA5: 116,681,149–116,741,867, forward strandKPNA5FAM162B: 116,724,567–116,765,833, reverse strandFAM162BGPRC6A: 116,792,085–116,829,083, reverse strandGPRC6ARFX6: 116,877,212–116,933,069, forward strandRFX6Diagram of RSPH4A: 6 exons on the forward strand of chromosome 6Exon 1: 13 known disease-causing sitesExon 2: 4 known disease-causing sitesExon 3: 21 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 5: 5 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 1: 116,616,479–116,617,309, 831 basesExon 2: 116,622,768–116,623,002, 235 basesExon 3: 116,627,629–116,628,369, 741 basesExon 4: 116,629,567–116,629,702, 136 basesExon 5: 116,630,435–116,630,552, 118 basesExon 6: 116,632,207–116,632,985, 779 bases1234565′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 2.8 kb of the gene's 16.5 kb; 2,151 of those bases code for the protein.

How a genome test reads RSPH4A

56

positions in RSPH4A 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 16.5 kb of RSPH4A, introns included, not only the 2.8 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.). RSPH4A gene: radial spoke head component 4A. Retrieved 16 October 2026, from https://dantelabs.com/genes/rsph4a

Vancouver

Dante Labs. RSPH4A gene: radial spoke head component 4A [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/rsph4a

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