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3 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CFAP144
cilia and flagella associated protein 144
Chromosome 1 · 1p34.2
NCBI Gene: 440585Ensembl: ENSG00000186973.12HGNC: HGNC:34347UniProt: A6NL82
8PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
microtubule bindingaxonemal microtubulesperm flagellumciliary baseadolescent idiopathic scoliosisArthropathyresponse to xenobiotic stimulushypertension
✦AI Summary

CFAP144 is a microtubule inner protein (MIP) that localizes to the axonemal B tubule inner sheath of dynein-decorated doublet microtubules (DMTs) in motile cilia and flagella. As part of the motile cilia transcriptional signature, CFAP144 is essential for coordinating ciliary axoneme structure and function 1. The protein plays a critical role in enabling motile cilia beating, the characteristic metachronal movement of ciliated epithelial cells 1. CFAP144 is particularly relevant to flagellated sperm motility, where proper axonemal organization is required for male fertility. Mutations or dysfunction of CFAP144 and related axonemal proteins contribute to the ciliopathies—a diverse group of genetic disorders affecting embryogenesis and tissue homeostasis 1. Conditions arising from defective motile cilia include primary ciliary dyskinesia, characterized by impaired mucociliary clearance and reduced sperm motility. Given CFAP144's structural role in organizing dynein-decorated microtubules and its co-expression with FOXJ1 in motile ciliated tissues, variants in this gene likely cause motile ciliary dysfunction. Understanding CFAP144's precise molecular interactions within the axonemal lattice may inform therapeutic strategies for ciliopathies, though clinical validation in patient cohorts is needed.

Sources cited
1
CFAP144 is part of the motile cilia transcriptional signature and axonemal organization is essential for ciliary function and prevention of ciliopathies
PMID: 32616903
⚠Limited data available — This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsⓘ20
adolescent idiopathic scoliosisOpen Targets
0.28Weak
ArthropathyOpen Targets
0.18Weak
response to xenobiotic stimulusOpen Targets
0.12Weak
hypertensionOpen Targets
0.11Weak
poisoningOpen Targets
0.09Suggestive
central nervous system cancerOpen Targets
0.04Suggestive
Down syndromeOpen Targets
0.02Suggestive
Intellectual disabilityOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.01Suggestive
COVID-19Open Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
endometrial carcinomaOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
Crohn's diseaseOpen Targets
0.00Suggestive
breast carcinomaOpen Targets
0.00Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.00Suggestive
autism spectrum disorderOpen Targets
0.00Suggestive
lymph node metastatic carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LRRC23Shared pathway100%RIBC2Shared pathway100%SPAG8Shared pathway100%LZTFL1Shared pathway100%PRM3Shared pathway100%CFAP68Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Lung
31%
Ovary
10%
Bone Marrow
5%
Liver
2%
Heart
0%
Gene Interaction Network
Click a node to explore
CFAP144LRRC23RIBC2SPAG8LZTFL1PRM3CFAP68
PROTEIN STRUCTURE
Preparing viewer…
PDB7UNG · 3.60 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.14LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.69 [0.43–1.14]
RankingsWhere CFAP144 stands among ~20K protein-coding genes
  • #17,556of 20,598
    Most Researched8
  • #11,892of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedCFAP144
Sources retrieved3 papers
Response time—
📄 Sources
3
1
The transcriptional signature associated with human motile cilia.
PMID: 32616903
Sci Rep · 2020
1.00
2
Differential expression of MAP3K7 and TROPONIN C proteins and related perturbations in renal amyloidosis.
PMID: 33023362
Expert Rev Proteomics · 2020
0.67
3
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability.
PMID: 30500859
PLoS One · 2018
0.33