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6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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EFCAB5
EF-hand calcium binding domain 5
Chromosome 17 · 17q11.2
NCBI Gene: 374786Ensembl: ENSG00000176927.16HGNC: HGNC:24801UniProt: A4FU69
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
calcium ion bindingintracranial hemorrhageintracerebral hemorrhagenervous system benign neoplasmintelligence
✦AI Summary

EFCAB5 (EF-hand calcium binding domain 5) is a calcium-binding protein with emerging roles in neurological and reproductive biology. Primary function involves regulation of axonemal structures critical for sperm motility; Efcab5 knockout mice show reduced sperm motility and fertility, with EFCAB5 identified as a sperm-specialized movement regulator interacting with radial spoke protein CFAP91 1. In the brain, EFCAB5 is associated with epigenetic aging rates across multiple brain regions, with significant cis-expression quantitative trait loci identified at locus 17q11.2 (P=3.4×10⁻²⁰) 2. The gene demonstrates disease relevance across multiple conditions: it was prioritized in glymphatic system function studies and associated with neurodegenerative diseases, with lower glymphatic function representing a risk factor for ischemic stroke 3. EFCAB5 also shows prognostic significance in skin cutaneous melanoma, where its expression associates with poor prognosis 4, and was identified as a novel cancer gene in biliary tract cancers associated with primary sclerosing cholangitis 5. Additionally, rare truncating variations in EFCAB5 were identified in a family with autism spectrum disorder, suggesting potential involvement in neurodevelopmental conditions 6. These findings indicate EFCAB5 functions across reproductive, neurodegenerative, and oncologic contexts.

Sources cited
1
EFCAB5 regulates sperm motility and is identified as a CFAP91-proximal component in axonemal radial spokes
PMID: 40931011
2
EFCAB5 is associated with epigenetic aging rates across brain regions with significant cis-eQTL at 17q11.2
PMID: 28516910
3
EFCAB5 is prioritized in glymphatic system function and associated with neurodegenerative diseases; lower glymphatic function is a risk factor for ischemic stroke
PMID: 39823331
4
EFCAB5 expression is significantly associated with poor prognosis in skin cutaneous melanoma
PMID: 39987414
5
EFCAB5 is identified as a novel cancer gene in biliary tract cancers associated with primary sclerosing cholangitis
PMID: 38967597
6
Rare truncating EFCAB5 variation identified in family with autism spectrum disorder
PMID: 26189338
Disease Associationsⓘ20
intracranial hemorrhageOpen Targets
0.29Weak
intracerebral hemorrhageOpen Targets
0.25Weak
nervous system benign neoplasmOpen Targets
0.22Weak
intelligenceOpen Targets
0.18Weak
chronic obstructive pulmonary diseaseOpen Targets
0.12Weak
diabetes mellitusOpen Targets
0.07Suggestive
46,XX testicular disorder of sex developmentOpen Targets
0.07Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.07Suggestive
X-linked non-syndromic intellectual disabilityOpen Targets
0.07Suggestive
46,XX ovotesticular disorder of sex developmentOpen Targets
0.06Suggestive
familial male-limited precocious pubertyOpen Targets
0.05Suggestive
X-linked intellectual disability - macrocephaly - macroorchidismOpen Targets
0.05Suggestive
X-linked intellectual disability-macrocephaly-macroorchidism syndromeOpen Targets
0.05Suggestive
azoospermiaOpen Targets
0.05Suggestive
Testicular regression syndromeOpen Targets
0.05Suggestive
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiencyOpen Targets
0.05Suggestive
cryptorchidismOpen Targets
0.05Suggestive
hypogonadotropic hypogonadism 11 with or without anosmiaOpen Targets
0.04Suggestive
hepatocellular adenomaOpen Targets
0.04Suggestive
spermatogenic failure 71Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NSRP1Protein interaction73%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
46%
Lung
9%
Heart
6%
Liver
4%
Ovary
4%
Gene Interaction Network
Click a node to explore
EFCAB5NSRP1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt A4FU69
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.91LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.78 [0.67–0.91]
RankingsWhere EFCAB5 stands among ~20K protein-coding genes
  • #15,544of 20,598
    Most Researched15
  • #8,269of 17,882
    Most Constrained (LOEUF)0.91
Genes detectedEFCAB5
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Genome-wide and phenome-wide studies provided insights into brain glymphatic system function and its clinical associations.
PMID: 39823331
Sci Adv · 2025
1.00
2
Clinical implications and molecular mechanism of long noncoding RNA LINC00518 and protein-coding genes in skin cutaneous melanoma by genome‑wide investigation.
PMID: 39987414
Arch Dermatol Res · 2025
0.83
3
Whole-exome sequencing reveals novel cancer genes and actionable targets in biliary tract cancers in primary sclerosing cholangitis.
PMID: 38967597
Hepatol Commun · 2024
0.67
4
Genetic architecture of epigenetic and neuronal ageing rates in human brain regions.
PMID: 28516910
Nat Commun · 2017
0.50
5
Proximity labeling of axonemal protein CFAP91 identifies EFCAB5 that regulates sperm motility.
PMID: 40931011
Nat Commun · 2025
0.33