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    Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility
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    1. Vibhor 09 Jul 2026
      RSPH1 and RSPH9, here highlighted, are known to be components of the RS head in human respiratory cilia

      Selection A- Gene with same function implicated in disease

      ExperimentName: Aprea et al. 2023

      GOterm: GO:0001535 (radial spoke head)

      FunctionalEvidence: Taken together, our results indicate that the ruler proteins CCDC39 and CCDC40, the radial spoke head proteins RSPH1 and RSPH9 as well as the central pair associated apparatus proteins SPEF2 and HYDIN have a similar functional role in motile cilia and sperm flagella, as hypothesized in Figure 1.

      HGNC: HGNC:12371

      GeneEvidence: PMID: 24518672 documents how RSPH1 and RSPH9, which encode homologs of components of the ‘head’ structure of ciliary radial spoke complexes identified in Chlamydomonas, cause clinical phenotypes that appear to be indistinguishable except at the gene level. They both also have a relationship with PCD.

      SharedGeneImplication: The gene-disease relationship between RSPH1 and PCD has been established and published in multiple papers. See Motile Ciliopathy GCEP curations of RSPH1 for more information.

      Motile Ciliopathy GCEP hgnc_imputed:HGNC_body
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    ncbi.nlm.nih.gov/pmc/articles/PMC9981940/
  3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7
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    1. Vibhor 09 Jul 2026
      (B) Schematic of the axonemal 96 nm repeat unit, including the composition of the IDA subspecies and the location of axonemal components. DNAH7, DNAH6, and DNAH1 are highlighted in purple, orange, and yellow, respectively. The stalks of the IDA dynein heavy chains are highlighted in blue or pink, depending on whether they are associated with DNALI1 or CETN2. The CCDC39/40 ruler complex is depicted in light and dark green.

      Selection A- Gene with same function implicated in disease

      ExperimentName: Wilken et al. 2024

      GOterm: GO:0036156 (inner dynein arm).

      FunctionalEvidence: Both DNAH6 and DNAH1 are both IDA components and localized to the same region.

      HGNC: HGNC:2940 (DNAH1).

      GeneEvidence: Both DNAH6 and DNAH1 are both IDA components and localized to the same region.

      SharedGeneImplication: DNAH1 was classified as having a "limited" relationship with PCD 37 and a “defintive” relationship with spermatogenic failure 18 by the Motile Ciliopathy GCEP. Refer to the curation for further details.

      Motile Ciliopathy GCEP hgnc_imputed:HGNC_body
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    pmc.ncbi.nlm.nih.gov/articles/PMC11274998/
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The Value of Transmission Electron Microscopy for Primary Ciliary Dyskinesia Diagnosis in the Era of Molecular Medicine: Genetic Defects with Normal and Non-Diagnostic Ciliary Ultrastructure
    1
    1. Vibhor 09 Jul 2026
      Four genes cause PCD through radial spoke defects - RSPH9 (Chr 6), RSPH4A (Chr 6), RSPH3 (Chr 6), and RSPH1 (Chr 21). These mutations produce various defects at the junction of the radial spoke heads and the central apparatus, resulting in diverse ciliary ultrastructure changes on TEM.

      Selection A - Gene with same function implicated in disease

      ExperimentName: Shapiro 2007 et al.

      GOterm: GO:0051179 (localization)

      FunctionalEvidence: RSPH3 and RSPH9 are both localized to radial spoke heads and have a similar phenotype profile.

      HGNC: HGNC:21057.

      GeneEvidence: PMID: 20301301 documents how RSPH9 and RSPH3, which encode homologs of components of the ‘head’ structure of ciliary radial spoke complexes identified in Chlamydomonas, cause clinical phenotypes that appear to be indistinguishable except at the gene level. They both also have a relationship with PCD.

      SharedGeneImplication: The gene-disease relationship between RSPH9 and PCD has been established and published in multiple papers. See Motile Ciliopathy GCEP curations of RSPH9 for more information.

      Motile Ciliopathy GCEP hgnc_imputed:HGNC_body
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    ncbi.nlm.nih.gov/pmc/articles/PMC6047068/