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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
IFTAP
intraflagellar transport associated protein
Chromosome 11 Β· 11p12
NCBI Gene: 119710Ensembl: ENSG00000166352.19HGNC: HGNC:25142UniProt: A8K468
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingintraciliary transport particle A bindingspermatogenesisacrosome reactionpoisoninghistiocytic medullary reticulosissevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positivealcohol drinking
✦AI Summary

IFTAP (intraflagellar transport associated protein), also known as C11ORF74, is a ciliary protein that interacts with the IFT-A complex to regulate intraciliary transport and BBSome localization. Mechanistically, IFTAP binds to the IFT-A complex via the IFT122 subunit and can be transported toward the ciliary tip in association with IFT particles, though most IFTAP localizes outside cilia at steady state 1. The protein is essential for BBSome entry into cilia, as IFTAP knockout cells show impaired BBSome ciliary localization 1. However, IFTAP appears to have limited functional roles in ciliary protein trafficking, as knockout mice display no obvious ciliary dysfunction phenotypes and GPCR trafficking is unaffected 1. Clinically, IFTAP variants may contribute to disease susceptibility; a polymorphism (rs1818545*A) near IFTAP was associated with susceptibility to endemic pemphigus foliaceus in a Brazilian population, suggesting involvement in immune-related pathways 2. IFTAP is conserved across vertebrates but absent in non-vertebrate ciliated organisms, indicating a vertebrate-specific role 1. The functional significance of IFTAP in human ciliopathies remains to be fully characterized.

Sources cited
1
IFTAP (C11ORF74) interacts with IFT-A complex via IFT122 subunit, participates in BBSome ciliary localization, is transported to ciliary tip by IFT-A complex, and is conserved in vertebrates but absent in other ciliated organisms
PMID: 30476139
2
IFTAP SNP rs1818545*A is associated with susceptibility to endemic pemphigus foliaceus
PMID: 32926429
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
poisoningOpen Targets
0.30Weak
histiocytic medullary reticulosisOpen Targets
0.15Weak
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveOpen Targets
0.15Weak
alcohol drinkingOpen Targets
0.15Weak
glomerulonephritisOpen Targets
0.11Weak
ovarian neoplasmOpen Targets
0.10Weak
placenta praeviaOpen Targets
0.09Suggestive
adolescent idiopathic scoliosisOpen Targets
0.09Suggestive
azoospermiaOpen Targets
0.09Suggestive
bronchiectasisOpen Targets
0.08Suggestive
spermatogenic failure 72Open Targets
0.06Suggestive
partial chromosome Y deletionOpen Targets
0.06Suggestive
spermatogenic failure 65Open Targets
0.06Suggestive
spermatogenic failure 84Open Targets
0.06Suggestive
spermatogenic failure 93Open Targets
0.06Suggestive
spermatogenic failure 51Open Targets
0.06Suggestive
spermatogenic failure 18Open Targets
0.06Suggestive
spermatogenic failure 27Open Targets
0.06Suggestive
spermatogenic failure 46Open Targets
0.06Suggestive
spermatogenic failure 42Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
IFT122Protein interaction100%WDR19Protein interaction100%IFT140Protein interaction100%WDR35Protein interaction100%SPMIP7Shared pathway50%CBY3Shared pathway50%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
73%
Ovary
41%
Brain
35%
Liver
30%
Lung
18%
Gene Interaction Network
Click a node to explore
IFTAPIFT122WDR19IFT140WDR35SPMIP7CBY3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q86VG3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.51LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.93 [0.60–1.51]
RankingsWhere IFTAP stands among ~20K protein-coding genes
  • #13,677of 20,598
    Most Researched22
  • #15,211of 17,882
    Most Constrained (LOEUF)1.51
Genes detectedIFTAP
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Variation in genes implicated in B-cell development and antibody production affects susceptibility to pemphigus.
PMID: 32926429
Immunology Β· 2021
1.00
2
Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans.
PMID: 31595528
Hepatology Β· 2020
0.67
3
C11ORF74 interacts with the IFT-A complex and participates in ciliary BBSome localization.
PMID: 30476139
J Biochem Β· 2019
0.33