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4 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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EFCAB9
EF-hand calcium binding domain 9
Chromosome 5 · 5q35.1
NCBI Gene: 285588Ensembl: ENSG00000214360.5HGNC: HGNC:34530UniProt: A8MZ26
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
calcium ion bindingcalcium ion sensor activityspermatogenesisflagellated sperm motilitytrauma complicationazoospermiamedical procedurecolorectal cancer
✦AI Summary

EFCAB9 is a calcium-binding protein that functions as a critical pH-dependent Ca2+ sensor within the CatSper channel complex, which regulates sperm hyperactivation and motility 1. As an auxiliary component of CatSper, EFCAB9 associates directly with the CATSPERζ subunit and coordinates the organization of calcium signaling nanodomains along the sperm flagellum 1. The protein exhibits dual sensing capability, responding to both intracellular Ca2+ and pH variations encountered in the female reproductive tract, with Ca2+-dependent binding to CATSPERζ that dissociates at elevated pH 1. Structurally, EFCAB9-CATSPERζ interactions are essential for maintaining the characteristic zigzag architecture of CatSper channel rows; loss of EFCAB9 disrupts this two-row channel structure and causes fragmentation and misalignment of the repeating units 2. Functionally, EFCAB9 deficiency severely impairs sperm motility and male fertility through disruption of pH-dependent CatSper activation and loss of proper Ca2+ signaling organization 12. These findings establish EFCAB9 as a long-sought intracellular pH and Ca2+ sensor triggering the motility changes necessary for successful fertilization 1.

Sources cited
1
EFCAB9 is a bifunctional, cytoplasmic pH-dependent Ca2+ sensor that modulates CatSper channel activity; associates with CATSPERζ; is essential for pH-dependent and Ca2+-sensitive CatSper activation; knockout results in compromised sperm motility and disrupted linear arrangement of Ca2+ signaling domains
PMID: 31056283
2
Loss of EFCAB9-CATSPERζ alters channel architecture, causing fragmentation and misalignment of zigzag-rows and disruption of flagellar movement; EFCAB9-CATSPERζ is required for the two-row structure of CatSper channels
PMID: 35715406
3
EFCAB9 is a pH-sensing and Ca2+-binding protein subunit of CatSper with a key role in triggering mammalian sperm hyperactivation
PMID: 31447243
4
Ion channel function and proper ion homeostasis within the flagellar compartment are essential for sperm motility and male fertility
PMID: 32097833
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
trauma complicationOpen Targets
0.10Weak
azoospermiaOpen Targets
0.10Suggestive
medical procedureOpen Targets
0.09Suggestive
colorectal cancerOpen Targets
0.08Suggestive
cervical carcinomaOpen Targets
0.07Suggestive
central nervous system cancerOpen Targets
0.07Suggestive
placenta praeviaOpen Targets
0.07Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.07Suggestive
complicationOpen Targets
0.06Suggestive
spermatogenic failure 72Open Targets
0.06Suggestive
spermatogenic failure 84Open Targets
0.06Suggestive
spermatogenic failure 93Open Targets
0.06Suggestive
spermatogenic failure 18Open Targets
0.06Suggestive
spermatogenic failure 27Open Targets
0.06Suggestive
spermatogenic failure 46Open Targets
0.06Suggestive
spermatogenic failure 65Open Targets
0.06Suggestive
spermatogenic failure 56Open Targets
0.06Suggestive
spermatogenic failure 92Open Targets
0.06Suggestive
spermatogenic failure 94Open Targets
0.06Suggestive
spermatogenic failure 19Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CATSPERHShared pathway100%CATSPERQShared pathway100%HSPA2Protein interaction96%CACNA1DProtein interaction96%CACNA1SProtein interaction92%CACNG8Protein interaction91%
Tissue Expression6 tissues
Heart
0%
Brain
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
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EFCAB9CATSPERHCATSPERQHSPA2CACNA1DCACNA1SCACNG8
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt A8MZ26
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.49LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.99 [0.67–1.49]
RankingsWhere EFCAB9 stands among ~20K protein-coding genes
  • #17,043of 20,598
    Most Researched10
  • #15,138of 17,882
    Most Constrained (LOEUF)1.49
Genes detectedEFCAB9
Sources retrieved4 papers
Response time—
📄 Sources
4
1
3D structure and in situ arrangements of CatSper channel in the sperm flagellum.
PMID: 35715406
Nat Commun · 2022
1.00
2
Tiny Dancer: EFCAB9 Triggers Sperm Hyperactivation via CatSper.
PMID: 31447243
Trends Biochem Sci · 2019
0.75
3
Dissecting the signaling pathways involved in the function of sperm flagellum.
PMID: 32097833
Curr Opin Cell Biol · 2020
0.50
4
Dual Sensing of Physiologic pH and Calcium by EFCAB9 Regulates Sperm Motility.
PMID: 31056283
Cell · 2019
0.25