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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.
CFAP36
cilia and flagella associated protein 36
Chromosome 2 Β· 2p16.1
NCBI Gene: 112942Ensembl: ENSG00000163001.13HGNC: HGNC:30540UniProt: Q96G28
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingciliary transition zoneciliary baseaxonemecrush injuryhypothyroidismthyroid diseaseVitiligo
✦AI Summary

CFAP36 is a conserved ciliary protein that functions as an effector for the small GTPase ARL3, playing a critical role in ciliary protein homeostasis. Structurally, CFAP36 contains a BART-like domain and recognizes a specific LLxILxxL motif on ARL3's N-terminal amphipathic helix, facilitating interaction between these proteins 1. Mechanistically, CFAP36 acts as a cargo adaptor that binds polyubiquitinated proteins destined for ciliary export through a coincidence detection mechanism, simultaneously engaging two IFT subunits accessible only in retrograde intraflagellar transport trains 2. This coupling of ubiquitinated cargo to retrograde IFT is essential for ciliary protein retrieval and homeostasis. Depletion of CFAP36 causes pathological accumulation of K63-linked ubiquitin within cilia and disrupts hedgehog signaling, a developmental pathway critically dependent on the retrieval of ubiquitinated receptors 2. The protein's importance extends to reproductive biology, where CFAP36 shows differential transcript usage across mammalian oocyte maturation stages, suggesting roles in cell-cycle regulation during oogenesis 3. These findings establish CFAP36 as a central regulator of ubiquitin-mediated ciliary protein transport, with implications for understanding ciliopathies and developmental signaling disorders.

Sources cited
1
CFAP36 binds polyubiquitinated proteins and links them to retrograde IFT trains through coincidence detection; its depletion accumulates K63-linked ubiquitin in cilia and disrupts hedgehog signaling
PMID: 40840444
2
CFAP36/BARTL1 is an ARL3 binding partner containing a BART-like domain that recognizes ARL3's LLxILxxL motif and may regulate ARL3 ciliary function
PMID: 26455799
3
CFAP36 is a cross-species differential transcript usage gene in mammalian oocytes involved in cell-cycle control mechanisms during oocyte maturation
PMID: 37995439
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
crush injuryOpen Targets
0.23Weak
hypothyroidismOpen Targets
0.15Weak
thyroid diseaseOpen Targets
0.08Suggestive
VitiligoOpen Targets
0.07Suggestive
autoimmune thyroid diseaseOpen Targets
0.07Suggestive
hypertensionOpen Targets
0.06Suggestive
12q14 microdeletion syndromeOpen Targets
0.04Suggestive
melorheostosisOpen Targets
0.04Suggestive
pyknoachondrogenesisOpen Targets
0.04Suggestive
autosomal recessive hypophosphatemic ricketsOpen Targets
0.04Suggestive
osteomesopyknosisOpen Targets
0.04Suggestive
essential hypertensionOpen Targets
0.04Suggestive
Dacryocystitis - osteopoikilosisOpen Targets
0.04Suggestive
dacryocystitis-osteopoikilosis syndromeOpen Targets
0.04Suggestive
osteoporosisOpen Targets
0.04Suggestive
postmenopausal osteoporosisOpen Targets
0.04Suggestive
hyperostosis corticalis generalisataOpen Targets
0.04Suggestive
gnathodiaphyseal dysplasiaOpen Targets
0.04Suggestive
Osteosclerosis - ichthyosis - premature ovarian failureOpen Targets
0.03Suggestive
osteosclerosis-ichthyosis-premature ovarian failure syndromeOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
ARL3Protein interaction97%
Tissue Expression6 tissues
Brain
100%
Ovary
84%
Bone Marrow
57%
Heart
49%
Lung
39%
Liver
21%
Gene Interaction Network
Click a node to explore
CFAP36ARL3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96G28
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.87LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.54 [0.34–0.87]
RankingsWhere CFAP36 stands among ~20K protein-coding genes
  • #11,881of 20,598
    Most Researched30
  • #7,626of 17,882
    Most Constrained (LOEUF)0.87
Genes detectedCFAP36
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
A conserved mechanism for the retrieval of polyubiquitinated proteins from cilia.
PMID: 40840444
Cell Β· 2025
1.00
2
The Interaction of CCDC104/BARTL1 with Arl3 and Implications for Ciliary Function.
PMID: 26455799
Structure Β· 2015
0.67
3
Differential transcript usage across mammalian oocytes at the germinal vesicle and metaphase II stages.
PMID: 37995439
Theriogenology Β· 2024
0.33