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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DRC9
dynein regulatory complex subunit 9
Chromosome 3 Β· 3q29
NCBI Gene: 84223Ensembl: ENSG00000114473.14HGNC: HGNC:25251UniProt: C9JKX8
21PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
calmodulin bindingHsp70 protein bindingcytoplasmcytosolBlackfan-Diamond anemiaDiamond-Blackfan anemiamucositisstomatitis
✦AI Summary

DRC9 (dynein regulatory complex subunit 9) is a structural component of the nexin-dynein regulatory complex (N-DRC) that maintains axoneme integrity and regulates microtubule sliding in motile cilia and flagella. As a component of the N-DRC, DRC9 functions to preserve the alignment of the distal axoneme and control microtubule dynamics essential for ciliary and flagellar movement. DRC9 binds calmodulin at low cellular calcium concentrations, thereby modulating calcium and calmodulin-dependent protein kinase IV (CAMK4) signaling cascades. This calcium-sensing capability positions DRC9 at the intersection of structural axoneme organization and calcium-dependent regulatory pathways. DRC9 is particularly critical for male fertility, where it is required for proper sperm flagellum assembly, axoneme organization, and flagellar motility. Mutations or deficiencies in DRC9 would be expected to impair sperm tail formation and function, leading to male infertility through compromised sperm motility. The gene's role in both structural maintenance of the axoneme and calcium-responsive signaling regulation highlights its importance in coordinating ciliary/flagellar function with cellular calcium homeostasis.

Sources cited
1
DRC9 is a component of the nexin-dynein regulatory complex (N-DRC) that regulates ciliary/flagellar motility, maintains axoneme alignment and integrity, and regulates microtubule sliding
PMID: Not available in provided abstracts
2
DRC9 binds calmodulin at low cellular Ca2+ levels and regulates CAMK4 activity and signaling cascades
PMID: Not available in provided abstracts
3
DRC9 is required for normal axoneme assembly in sperm flagella, sperm tail formation, and male fertility
PMID: Not available in provided abstracts
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
Blackfan-Diamond anemiaOpen Targets
0.54Moderate
Diamond-Blackfan anemiaOpen Targets
0.46Moderate
mucositisOpen Targets
0.20Weak
stomatitisOpen Targets
0.20Weak
male reproductive system diseaseOpen Targets
0.17Weak
azoospermiaOpen Targets
0.11Weak
spermatogenic failure 65Open Targets
0.10Suggestive
spermatogenic failure 84Open Targets
0.10Suggestive
spermatogenic failure 93Open Targets
0.10Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.10Suggestive
spermatogenic failure 56Open Targets
0.10Suggestive
spermatogenic failure 92Open Targets
0.10Suggestive
spermatogenic failure 94Open Targets
0.10Suggestive
spermatogenic failure 59Open Targets
0.10Suggestive
spermatogenic failure 60Open Targets
0.10Suggestive
spermatogenic failure 73Open Targets
0.10Suggestive
spermatogenic failure 74Open Targets
0.10Suggestive
spermatogenic failure 40Open Targets
0.10Suggestive
spermatogenic failure 62Open Targets
0.10Suggestive
spermatogenic failure 88Open Targets
0.10Suggestive
Pathogenic Variants1
NM_032263.5(IQCG):c.-60+5377C>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
View on ClinVar β†—
Related Genes
CALM3Protein interaction92%CALM2Protein interaction90%CALM1Protein interaction90%DRC7Protein interaction63%CFAP61Shared pathway50%CFAP43Shared pathway50%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
27%
Brain
25%
Heart
18%
Lung
13%
Liver
11%
Gene Interaction Network
Click a node to explore
DRC9CALM3CALM2CALM1DRC7CFAP61CFAP43
PROTEIN STRUCTURE
Preparing viewer…
PDB4LZX Β· 1.50 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.37LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.04 [0.81–1.37]
RankingsWhere DRC9 stands among ~20K protein-coding genes
  • #13,893of 20,598
    Most Researched21
  • #5,361of 5,498
    Most Pathogenic Variants1
  • #14,287of 17,882
    Most Constrained (LOEUF)1.37
Genes detectedDRC9
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Co-opting regulation bypass repair as a gene-correction strategy for monogenic diseases.
PMID: 33892188
Mol Ther Β· 2021
1.00
2
The protein kinase PERK/EIF2AK3 regulates proinsulin processing not via protein synthesis but by controlling endoplasmic reticulum chaperones.
PMID: 29444822
J Biol Chem Β· 2018
0.75
3
Insulin secretion and Ca2+ dynamics in Ξ²-cells are regulated by PERK (EIF2AK3) in concert with calcineurin.
PMID: 24114838
J Biol Chem Β· 2013
0.50
4
PERK in beta cell biology and insulin biogenesis.
PMID: 20850340
Trends Endocrinol Metab Β· 2010
0.25