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GeneE
5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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EFHB
EF-hand domain family member B
Chromosome 3 · 3p24.3
NCBI Gene: 151651Ensembl: ENSG00000163576.18HGNC: HGNC:26330UniProt: Q8N7U6
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of store-operated calcium entryaxonemal microtubulecalcium ion sensor activityprotein bindingprimary thrombocytopeniapostinflammatory pulmonary fibrosisthyroiditistype 1 diabetes nephropathy
✦AI Summary

EFHB (EF-hand domain family member B, also known as CFAP21) functions as a dual-role protein with roles in calcium signaling and ciliary motility. As a cytosolic calcium sensor, EFHB modulates store-operated calcium entry (SOCE) by interacting with STIM1 upon endoplasmic reticulum store depletion in a calcium-dependent manner 1. This interaction regulates the STIM1-SARAF complex dynamics, controlling Orai1 channel activation and subsequent slow calcium-dependent inactivation, ultimately facilitating NFAT translocation from cytosol to nucleus 1. Additionally, EFHB serves as a microtubule inner protein (MIP) component of dynein-decorated doublet microtubules in the ciliary axoneme, contributing to motile cilia beating. In the male germline, EFHB is a sperm flagellar protein whose abnormal abundance is associated with male infertility phenotypes including oligozoospermia and oligoasthenoteratozoospermia 2, suggesting its importance for sperm motility and flagellar function. While EFHB was examined as a candidate gene in type 1 diabetes genetics studies, no significant association was established 3. The protein's dual localization and function in calcium signaling and axonemal structures position it as a key regulator at the intersection of cellular motility and immunoregulatory calcium signaling.

Sources cited
1
EFHB is a cytosolic calcium sensor that interacts with STIM1 upon store depletion, modulates STIM1-SARAF interaction, and regulates SOCE activation and NFAT nuclear translocation
PMID: 30481768
2
EFHB (CFAP21) shows significantly altered abundance in spermatozoa from infertile men with various semen abnormalities, suggesting relevance to male fertility and sperm motility
PMID: 36896575
3
EFHB was examined as a candidate gene in type 1 diabetes association studies but showed no convincing evidence of association
PMID: 19956106
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
primary thrombocytopeniaOpen Targets
0.30Weak
postinflammatory pulmonary fibrosisOpen Targets
0.29Weak
thyroiditisOpen Targets
0.21Weak
type 1 diabetes nephropathyOpen Targets
0.21Weak
tricuspid valve diseaseOpen Targets
0.21Weak
ovarian neoplasmOpen Targets
0.20Weak
clavicle fractureOpen Targets
0.10Weak
shoulder fractureOpen Targets
0.10Weak
macular degenerationOpen Targets
0.09Suggestive
Romano-Ward syndromeOpen Targets
0.07Suggestive
familial atrial fibrillationOpen Targets
0.07Suggestive
Familial short QT syndromeOpen Targets
0.06Suggestive
Brugada syndromeOpen Targets
0.06Suggestive
duodenal ulcerOpen Targets
0.06Suggestive
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.06Suggestive
Familial progressive cardiac conduction defectOpen Targets
0.06Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.06Suggestive
sinoatrial node dysfunction and deafnessOpen Targets
0.06Suggestive
atrial fibrillationOpen Targets
0.05Suggestive
deafnessOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
WDR90Protein interaction94%CFAP53Protein interaction89%CFAP126Protein interaction85%TUBA1AProtein interaction84%TUBB4BProtein interaction84%SPACA9Protein interaction84%
Tissue Expression6 tissues
Brain
100%
Ovary
38%
Lung
31%
Bone Marrow
27%
Liver
13%
Heart
8%
Gene Interaction Network
Click a node to explore
EFHBWDR90CFAP53CFAP126TUBA1ATUBB4BSPACA9
PROTEIN STRUCTURE
Preparing viewer…
PDB7UNG · 3.60 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.24LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.03 [0.85–1.24]
RankingsWhere EFHB stands among ~20K protein-coding genes
  • #17,319of 20,598
    Most Researched9
  • #13,129of 17,882
    Most Constrained (LOEUF)1.24
Genes detectedEFHB
Sources retrieved5 papers
Response time—
📄 Sources
5
1
A germline HLTF mutation in familial MDS induces DNA damage accumulation through impaired PCNA polyubiquitination.
PMID: 30696947
Leukemia · 2019
1.00
2
The human sperm proteome-Toward a panel for male fertility testing.
PMID: 36896575
Andrology · 2023
0.80
3
Synthesis of (E)-Ethyl-4-(2-(furan-2-ylmethylene)hydrazinyl)benzoate, crystal structure, and studies of its interactions with human serum albumin by spectroscopic fluorescence and molecular docking methods.
PMID: 30921660
Spectrochim Acta A Mol Biomol Spectrosc · 2019
0.60
4
Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.
PMID: 19956106
Genes Immun · 2009
0.40
5
EFHB is a Novel Cytosolic Ca2+ Sensor That Modulates STIM1-SARAF Interaction.
PMID: 30481768
Cell Physiol Biochem · 2018
0.20