Details for: CFAP20

Gene ID: 29105

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: CFAP20

Ensembl ID: ENSG00000070761

Description: cilia and flagella associated protein 20

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • peripheral nervous system neuron CL2000032
    CSI 30.63
    rCSI 41.74%
    PRS 71.07
  • ciliated epithelial cell CL0000067
    CSI 14.31
    rCSI 12.58%
    PRS 68.63
  • CD8-positive, alpha-beta cytotoxic T cell CL0000794
    CSI 7.57
    rCSI 9.04%
    PRS 93.19
  • lung neuroendocrine cell CL1000223
    CSI 7.19
    rCSI 10.63%
    PRS 83.4
  • mononuclear phagocyte CL0000113
    CSI 7.04
    rCSI 15.49%
    PRS 83.12
  • vascular associated smooth muscle cell CL0000359
    CSI 6.44
    rCSI 20.88%
    PRS 77.56
  • radial glial cell CL0000681
    CSI 6.07
    rCSI 8.43%
    PRS 77.99
  • neural crest cell CL0011012
    CSI 5.85
    rCSI 4.62%
    PRS 68.11
  • central memory CD8-positive, alpha-beta T cell CL0000907
    CSI 5.48
    rCSI 3.69%
    PRS 91.28
  • multi-ciliated epithelial cell CL0005012
    CSI 5.28
    rCSI 5.27%
    PRS 73.29
  • deuterosomal cell CL4033044
    CSI 5.22
    rCSI 17.65%
    PRS 77.32
  • T follicular helper cell CL0002038
    CSI 4.78
    rCSI 3.58%
    PRS 91.33
  • double-positive, alpha-beta thymocyte CL0000809
    CSI 3.91
    rCSI 3.99%
    PRS 88.85
  • precursor B cell CL0000817
    CSI 3.79
    rCSI 3.32%
    PRS 86.54
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 3.66
    rCSI 8.33%
    PRS 73.31
  • effector CD4-positive, alpha-beta T cell CL0001044
    CSI 3.61
    rCSI 10.36%
    PRS 94.4
  • double negative thymocyte CL0002489
    CSI 3.56
    rCSI 2.47%
    PRS 90.12
  • T-helper 17 cell CL0000899
    CSI 3.53
    rCSI 2.81%
    PRS 94.7
  • plasmablast CL0000980
    CSI 3.48
    rCSI 2.74%
    PRS 84.34
  • effector CD8-positive, alpha-beta T cell CL0001050
    CSI 3.44
    rCSI 2.62%
    PRS 91.18
  • interneuron CL0000099
    CSI 3.27
    rCSI 6.57%
    PRS 69.62
  • ON-bipolar cell CL0000749
    CSI 3.2
    rCSI 4.76%
    PRS 79.6
  • skin fibroblast CL0002620
    CSI 3.13
    rCSI 2.7%
    PRS 80.54
  • myofibroblast cell CL0000186
    CSI 3.09
    rCSI 4.28%
    PRS 76.79
  • alveolar type 1 fibroblast cell CL4028004
    CSI 3.05
    rCSI 3.34%
    PRS 81.42
  • VIP GABAergic cortical interneuron CL4023016
    CSI 3.04
    rCSI 3.63%
    PRS 61.61
  • megakaryocyte-erythroid progenitor cell CL0000050
    CSI 2.92
    rCSI 2.63%
    PRS 77.59
  • rod bipolar cell CL0000751
    CSI 2.88
    rCSI 5.17%
    PRS 72.92
  • hematopoietic stem cell CL0000037
    CSI 2.86
    rCSI 1.9%
    PRS 82.19
  • epithelial cell of lung CL0000082
    CSI 2.8
    rCSI 2.33%
    PRS 80.06
  • early lymphoid progenitor CL0000936
    CSI 2.77
    rCSI 2.43%
    PRS 84.3
  • interstitial cell of Cajal CL0002088
    CSI 2.74
    rCSI 3.48%
    PRS 84.41
  • CD4-positive helper T cell CL0000492
    CSI 2.71
    rCSI 2.05%
    PRS 90.71
  • bronchus fibroblast of lung CL2000093
    CSI 2.7
    rCSI 2.19%
    PRS 78.85
  • neuroblast (sensu Nematoda and Protostomia) CL0000338
    CSI 2.69
    rCSI 3.1%
    PRS 71.61
  • perivascular cell CL4033054
    CSI 2.68
    rCSI 3.66%
    PRS 83.85
  • pulmonary ionocyte CL0017000
    CSI 2.67
    rCSI 3.25%
    PRS 85.9
  • CD8-positive, alpha-beta thymocyte CL0000811
    CSI 2.65
    rCSI 4.13%
    PRS 94.18
  • enteric smooth muscle cell CL0002504
    CSI 2.63
    rCSI 3.76%
    PRS 80.32
  • cerebral cortex endothelial cell CL1001602
    CSI 2.62
    rCSI 4.53%
    PRS 71.07
  • neuroblast (sensu Vertebrata) CL0000031
    CSI 2.59
    rCSI 3.32%
    PRS 75.54
  • group 3 innate lymphoid cell CL0001071
    CSI 2.56
    rCSI 1.92%
    PRS 85.03
  • stem cell CL0000034
    CSI 2.5
    rCSI 2.41%
    PRS 72.58
  • intestine goblet cell CL0019031
    CSI 2.44
    rCSI 2.16%
    PRS 77.06
  • myeloid leukocyte CL0000766
    CSI 2.42
    rCSI 2.24%
    PRS 80.89
  • fibroblast of lung CL0002553
    CSI 2.42
    rCSI 2.25%
    PRS 80.2
  • ciliated cell CL0000064
    CSI 2.42
    rCSI 3.91%
    PRS 74.44
  • retinal cone cell CL0000573
    CSI 2.41
    rCSI 3.88%
    PRS 69.47
  • fraction A pre-pro B cell CL0002045
    CSI 2.39
    rCSI 2.74%
    PRS 89.71
  • activated type II NK T cell CL0000931
    CSI 2.38
    rCSI 2.68%
    PRS 91.63
  • pro-B cell CL0000826
    CSI 2.36
    rCSI 1.95%
    PRS 81.85
  • enteroendocrine cell CL0000164
    CSI 2.36
    rCSI 3.22%
    PRS 79.27
  • activated CD4-positive, alpha-beta T cell CL0000896
    CSI 2.34
    rCSI 2.16%
    PRS 92.89
  • retina horizontal cell CL0000745
    CSI 2.28
    rCSI 3.48%
    PRS 76.35
  • keratinocyte CL0000312
    CSI 2.26
    rCSI 1.9%
    PRS 82.47
  • hepatocyte CL0000182
    CSI 2.25
    rCSI 4.02%
    PRS 78.56
  • type B pancreatic cell CL0000169
    CSI 2.15
    rCSI 4.77%
    PRS 78.75
  • epithelial cell of lower respiratory tract CL0002632
    CSI 2.11
    rCSI 1.64%
    PRS 83.09
  • blood vessel endothelial cell CL0000071
    CSI 2.11
    rCSI 4.38%
    PRS 76.19
  • placental villous trophoblast CL2000060
    CSI 2.08
    rCSI 3.21%
    PRS 78.48
  • extravillous trophoblast CL0008036
    CSI 2.05
    rCSI 2.53%
    PRS 77.28
  • mesodermal cell CL0000222
    CSI 1.98
    rCSI 2.37%
    PRS 77.12
  • ependymal cell CL0000065
    CSI 1.96
    rCSI 3.98%
    PRS 58.02
  • OFF-bipolar cell CL0000750
    CSI 1.94
    rCSI 2.66%
    PRS 81.65
  • natural T-regulatory cell CL0000903
    CSI 1.93
    rCSI 3.65%
    PRS 96.23
  • sst GABAergic cortical interneuron CL4023017
    CSI 1.92
    rCSI 2.47%
    PRS 62.62
  • lung ciliated cell CL1000271
    CSI 1.91
    rCSI 2.2%
    PRS 71.72
  • intestinal epithelial cell CL0002563
    CSI 1.9
    rCSI 1.98%
    PRS 76.97
  • pulmonary capillary endothelial cell CL4028001
    CSI 1.89
    rCSI 3.61%
    PRS 88.89
  • choroid plexus epithelial cell CL0000706
    CSI 1.89
    rCSI 3.1%
    PRS 68.98
  • glioblast CL0000030
    CSI 1.87
    rCSI 2.98%
    PRS 71.16
  • alveolar adventitial fibroblast CL4028006
    CSI 1.84
    rCSI 2.9%
    PRS 81.11
  • mature B cell CL0000785
    CSI 1.83
    rCSI 1.59%
    PRS 88.58
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 1.82
    rCSI 3.21%
    PRS 60.81
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 1.78
    rCSI 2.21%
    PRS 59.41
  • neural progenitor cell CL0011020
    CSI 1.68
    rCSI 7.37%
    PRS 67.97
  • basal cell CL0000646
    CSI 1.64
    rCSI 2.19%
    PRS 78.16
  • differentiation-committed oligodendrocyte precursor CL4023059
    CSI 1.56
    rCSI 2.84%
    PRS 70.92
  • club cell CL0000158
    CSI 1.56
    rCSI 2.28%
    PRS 73.91
  • intestinal tuft cell CL0019032
    CSI 1.53
    rCSI 2.34%
    PRS 83.15
  • tendon cell CL0000388
    CSI 1.51
    rCSI 3.92%
    PRS 86.71
  • astrocyte of the cerebral cortex CL0002605
    CSI 1.48
    rCSI 3.31%
    PRS 62.27
  • effector memory CD8-positive, alpha-beta T cell, terminally differentiated CL0001062
    CSI 1.47
    rCSI 7.38%
    PRS 90.4
  • mesenchymal cell CL0008019
    CSI 1.43
    rCSI 3.63%
    PRS 72.8
  • sncg GABAergic cortical interneuron CL4023015
    CSI 1.37
    rCSI 2.21%
    PRS 63.17
  • acinar cell CL0000622
    CSI 1.35
    rCSI 1.98%
    PRS 88.34
  • respiratory basal cell CL0002633
    CSI 1.26
    rCSI 1.3%
    PRS 83.66
  • lung pericyte CL0009089
    CSI 1.25
    rCSI 3.31%
    PRS 85.98
  • type EC enteroendocrine cell CL0000577
    CSI 1.21
    rCSI 4.28%
    PRS 83.58
  • erythroid lineage cell CL0000764
    CSI 1.18
    rCSI 7.58%
    PRS 88.43
  • large pre-B-II cell CL0000957
    CSI 1.16
    rCSI 3.31%
    PRS 84.95
  • CD8-positive, alpha-beta memory T cell, CD45RO-positive CL0001203
    CSI 1.08
    rCSI 1.31%
    PRS 60.6
  • L6b glutamatergic cortical neuron CL4023038
    CSI 1.05
    rCSI 3.28%
    PRS 63.14
  • vasa recta ascending limb cell CL1001131
    CSI 1.05
    rCSI 4.75%
    PRS 87.44
  • vein endothelial cell of respiratory system CL4033008
    CSI 0.99
    rCSI 6.77%
    PRS 86.33
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 0.77
    rCSI 1.3%
    PRS 61.5
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 0.77
    rCSI 1.86%
    PRS 59.54
  • retinal ganglion cell CL0000740
    CSI 0.74
    rCSI 1.62%
    PRS 65.26

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

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  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [CFAP20](/details-gene/29105) (Cilia and Flagella Associated Protein 20) is a protein-coding gene located on chromosome 16q21. As its name suggests, [CFAP20](/details-gene/29105) is integral to the structure and function of cilia and flagella. Functional annotations strongly link it to processes such as [cilium assembly](/details-cell/GO0060271) and the regulation of ciliary and flagellar motility ([GO:0030317](https://www.ebi.ac.uk/QuickGO/term/GO:0030317)). Its expression is most significant in cell types that rely on these organelles, including various [ciliated epithelial cell](/details-cell/CL0000067) populations. Notably, it also shows exceptionally high significance in [peripheral nervous system neuron](/details-cell/CL2000032), suggesting a crucial role in the biology of the neuronal primary cilium. ## Cellular Roles and Expression Landscape The expression profile of [CFAP20](/details-gene/29105) aligns closely with its established role in ciliary biology, showing high significance across a range of ciliated cell types. **Overall**, the data highlights its importance in several key biological systems: * **Epithelial Tissues:** The gene is a significant marker in various epithelial cells responsible for mucociliary clearance, including [ciliated epithelial cell](/details-cell/CL0000067) (CSI: 14.31), [multi-ciliated epithelial cell](/details-cell/CL0005012) (CSI: 5.28), and [ciliated columnar cell of tracheobronchial tree](/details-cell/CL0002145) (CSI: 3.66). Its expression in [deuterosomal cell](/details-cell/CL4033044) (CSI: 5.22), the precursor to multi-ciliated cells, underscores its early involvement in ciliogenesis. * **Nervous System:** Strikingly, the highest significance index for [CFAP20](/details-gene/29105) is observed in [peripheral nervous system neuron](/details-cell/CL2000032) (CSI: 30.63). This suggests a critical function for the gene in the primary cilia of neurons, which act as important sensory and signaling hubs. Its notable expression in progenitor cells like [radial glial cell](/details-cell/CL0000681) and [neural crest cell](/details-cell/CL0011012) further indicates its involvement in neurodevelopment. * **Immune System:** [CFAP20](/details-gene/29105) also shows significant expression in several lymphocyte populations, including [CD8-positive, alpha-beta cytotoxic T cell](/details-cell/CL0000794) (CSI: 7.57), [central memory CD8-positive, alpha-beta T cell](/details-cell/CL0000907) (CSI: 5.48), and [T follicular helper cell](/details-cell/CL0002038) (CSI: 4.78). This is consistent with the emerging role of the primary cilium as a signaling center in immune cells. ## Pathways and Molecular Function The functions of [CFAP20](/details-gene/29105) are tightly linked to the biology of microtubule-based organelles. Gene Ontology annotations place it centrally within the [motile cilium](/details-cell/GO0031514), specifically as a component of the [axonemal microtubule](/details-cell/GO0005879) and [ciliary basal body](/details-cell/GO0036064). This localization is essential for its role in biological processes such as [cilium assembly](/details-cell/GO0060271) and the [regulation of cilium beat frequency involved in ciliary motility](/details-cell/GO0060296). Furthermore, [CFAP20](/details-gene/29105) is associated with [protein polyglutamylation](/details-cell/GO0018095), a critical post-translational modification that stabilizes axonemal microtubules and regulates motor protein activity. This function is supported by research identifying its homolog, Bug22p, as a protein that influences cilium morphology and microtubule modifications ([Link](https://pubmed.ncbi.nlm.nih.gov/24414207/)). Its presence in the [sperm flagellum](/details-cell/GO0036126) is consistent with its involvement in [flagellated sperm motility](/details-cell/GO0030317). ## Research Directions The widespread and significant expression of [CFAP20](/details-gene/29105) in diverse ciliated cells, particularly in non-canonical contexts like the immune and nervous systems, opens several avenues for future investigation. Based on the available data, several testable hypotheses can be proposed: 1. **Hypothesis:** In T lymphocytes, [CFAP20](/details-gene/29105) is required for the structural integrity of the primary cilium, which acts as a scaffold for organizing the T-cell receptor (TCR) signaling complex during antigen recognition. 2. **Hypothesis:** The high expression of [CFAP20](/details-gene/29105) in peripheral neurons is essential for the proper trafficking and localization of sensory receptors to the primary cilium, thereby modulating neuronal sensitivity to environmental stimuli like odorants or mechanical forces. A potential experimental approach to test the first hypothesis regarding the T-cell role of [CFAP20](/details-gene/29105) could involve a loss-of-function study. Using CRISPR-Cas9, one could generate a [CFAP20](/details-gene/29105) knockout in primary human T cells. Subsequent analysis would involve stimulating these cells via the TCR and measuring key activation markers, such as cytokine production (IFN-gamma, IL-2) by ELISA and the phosphorylation of downstream signaling proteins (e.g., LCK, ZAP70) by flow cytometry or Western blot. Concurrently, immunofluorescence microscopy could be used to assess whether the knockout impairs the formation or morphology of the primary cilium upon T-cell activation. A blunted signaling response correlated with ciliary defects would provide strong evidence for this hypothesis. **Therapeutic Potential:** As a fundamental structural component of cilia, [CFAP20](/details-gene/29105) is more likely a candidate for investigation in the context of monogenic disorders (ciliopathies) than as a conventional drug target. Pathogenic mutations in [CFAP20](/details-gene/29105) could lead to diseases characterized by defective ciliary motility or sensing. In such cases, therapeutic strategies would likely revolve around gene replacement therapy rather than small molecule inhibition, as the latter would be expected to phenocopy the disease state.

Genular Protein ID: 799332960

Symbol: CFA20_HUMAN

Name: Cilia- and flagella-associated protein 20

UniProtKB Accession Codes:

Q9Y6A4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 CarbonylDB 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 5 EMDB 2 Ensembl 1 ExpressionAtlas 1 GO 16 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 20118210

Title: Bug22p, a conserved centrosomal/ciliary protein also present in higher plants, is required for an effective ciliary stroke in Paramecium.

PubMed ID: 20118210

DOI: 10.1128/ec.00368-09

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24414207

Title: Bug22 influences cilium morphology and the post-translational modification of ciliary microtubules.

PubMed ID: 24414207

DOI: 10.1242/bio.20146577

PubMed ID: 36191189

Title: SPACA9 is a lumenal protein of human ciliary singlet and doublet microtubules.

PubMed ID: 36191189

DOI: 10.1073/pnas.2207605119

Sequence Information:

  • Length: 193
  • Mass: 22774
  • Checksum: 82ECDB0D2515BF77
  • Sequence:
    • MFKNTFQSGF LSILYSIGSK PLQIWDKKVR NGHIKRITDN DIQSLVLEIE GTNVSTTYIT 
CPADPKKTLG IKLPFLVMII KNLKKYFTFE VQVLDDKNVR RRFRASNYQS TTRVKPFICT 
MPMRLDDGWN QIQFNLLDFT RRAYGTNYIE TLRVQIHANC RIRRVYFSDR LYSEDELPAE 
FKLYLPVQNK AKQ