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GeneE
3 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.
CFAP77
cilia and flagella associated protein 77
Chromosome 9 Β· 9q34.13
NCBI Gene: 389799Ensembl: ENSG00000188523.10HGNC: HGNC:33776UniProt: A2A393
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingaxonemal microtubuleciliumaxonemeIrritabilitytype 2 diabetes mellitusHypercholesterolemiajoint disease
✦AI Summary

CFAP77 is a microtubule inner protein (MIP) localized to the axoneme of motile cilia and sperm flagella, where it functions as a structural component of dynein-decorated doublet microtubules 1. The protein is essential for maintaining axonemal integrity and enabling proper flagellar function, as CFAP77 knockout mice exhibit significantly reduced sperm motility and male fertility despite normal sperm morphology 1. Mechanistically, CFAP77 stabilizes other MIPs through direct protein-protein interactions; specifically, it interacts with TEKTL1, and CFAP77 loss reduces TEKTL1 abundance in spermatozoa 1. Beyond reproductive function, CFAP77 has emerged as a potential biomarker in neurological disease contexts. Genome-wide association studies identified differentially methylated CpG sites in CFAP77 associated with opioid dependence in women 2, and SNPs within the CFAP77 gene region showed significant association with longitudinal changes in cerebrospinal fluid tau, a key Alzheimer's disease biomarker 3. These findings suggest CFAP77 may have broader biological significance beyond ciliary/flagellar function, though the mechanistic basis for its involvement in neurological phenotypes requires further investigation.

Sources cited
1
CFAP77 is a microtubule inner protein localized to sperm flagella that is essential for sperm motility and male fertility through interaction with TEKTL1
PMID: 41316927
2
CFAP77 showed genome-wide significant differential DNA methylation associated with opioid dependence in women
PMID: 30874594
3
SNPs in the CFAP77 gene region were associated with longitudinal changes in cerebrospinal fluid tau in Alzheimer's disease
PMID: 39344768
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
IrritabilityOpen Targets
0.48Moderate
type 2 diabetes mellitusOpen Targets
0.28Weak
HypercholesterolemiaOpen Targets
0.26Weak
joint diseaseOpen Targets
0.24Weak
head injuryOpen Targets
0.24Weak
ulcerative colitisOpen Targets
0.23Weak
crush injuryOpen Targets
0.23Weak
malunion fractureOpen Targets
0.21Weak
Ischemic strokeOpen Targets
0.20Weak
diabetes mellitusOpen Targets
0.18Weak
schizophreniaOpen Targets
0.16Weak
central nervous system cancerOpen Targets
0.06Suggestive
Precordial painOpen Targets
0.04Suggestive
pancreatic adenocarcinomaOpen Targets
0.03Suggestive
cardiac transplantOpen Targets
0.03Suggestive
gastroesophageal reflux diseaseOpen Targets
0.02Suggestive
papillary thyroid carcinomaOpen Targets
0.00Suggestive
visceral LeishmaniasisOpen Targets
0.00Suggestive
ciliopathyOpen Targets
0.00Suggestive
opioid dependenceOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
LRRC23Shared pathway100%LZTFL1Shared pathway100%PRM3Shared pathway100%CFAP68Shared pathway100%SPMIP6Shared pathway100%CFAP107Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Heart
56%
Lung
7%
Ovary
2%
Liver
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CFAP77LRRC23LZTFL1PRM3CFAP68SPMIP6CFAP107
PROTEIN STRUCTURE
Preparing viewer…
PDB7UNG Β· 3.60 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.09LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.77 [0.55–1.09]
RankingsWhere CFAP77 stands among ~20K protein-coding genes
  • #14,668of 20,598
    Most Researched18
  • #11,136of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedCFAP77
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Genomewide Study of Epigenetic Biomarkers of Opioid Dependence in European- American Women.
PMID: 30874594
Sci Rep Β· 2019
1.00
2
A genome-wide association study of longitudinal change in CSF tau among non-demented elderly.
PMID: 39344768
Bratisl Lek Listy Β· 2024
0.67
3
Microtubule Inner Protein CFAP77 Contributes to Sperm Motility and Male Fertility in Mice.
PMID: 41316927
Andrology Β· 2025
0.33