Details for: C20orf96

Gene ID: 140680

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: C20orf96

Ensembl ID: ENSG00000196476

Description: chromosome 20 open reading frame 96

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • ciliated epithelial cell CL0000067
    CSI 17.62
    rCSI 15.49%
    PRS 88.93
  • lung ciliated cell CL1000271
    CSI 15.89
    rCSI 18.37%
    PRS 91.31
  • small pre-B-II cell CL0000954
    CSI 6.14
    rCSI 5.9%
    PRS 98.08
  • multi-ciliated epithelial cell CL0005012
    CSI 5.97
    rCSI 5.96%
    PRS 91.03
  • pro-B cell CL0000826
    CSI 4.92
    rCSI 4.08%
    PRS 95.99
  • ciliated cell CL0000064
    CSI 4.76
    rCSI 7.72%
    PRS 90.1
  • hematopoietic stem cell CL0000037
    CSI 4.22
    rCSI 2.8%
    PRS 96.02
  • interstitial cell of Cajal CL0002088
    CSI 3.89
    rCSI 4.96%
    PRS 97.15
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 3.89
    rCSI 8.87%
    PRS 89.4
  • astrocyte of the cerebral cortex CL0002605
    CSI 3.6
    rCSI 8.08%
    PRS 87.33
  • peripheral nervous system neuron CL2000032
    CSI 3.59
    rCSI 4.89%
    PRS 90.92
  • neural crest cell CL0011012
    CSI 3.54
    rCSI 2.8%
    PRS 91.11
  • pulmonary ionocyte CL0017000
    CSI 3.27
    rCSI 3.98%
    PRS 96.83
  • early lymphoid progenitor CL0000936
    CSI 3.1
    rCSI 2.72%
    PRS 97.23
  • ionocyte CL0005006
    CSI 3.07
    rCSI 3.3%
    PRS 95.9
  • cerebral cortex GABAergic interneuron CL0010011
    CSI 2.85
    rCSI 8.41%
    PRS 95.05
  • choroid plexus epithelial cell CL0000706
    CSI 2.75
    rCSI 4.5%
    PRS 90.69
  • granulocyte monocyte progenitor cell CL0000557
    CSI 2.63
    rCSI 2.28%
    PRS 96.24
  • mesenchymal cell CL0008019
    CSI 2.47
    rCSI 6.28%
    PRS 92.44
  • deuterosomal cell CL4033044
    CSI 2.38
    rCSI 8.06%
    PRS 90.22
  • megakaryocyte-erythroid progenitor cell CL0000050
    CSI 2
    rCSI 1.8%
    PRS 94.54
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 1.92
    rCSI 3.39%
    PRS 86.58
  • CD8-positive, alpha-beta memory T cell, CD45RO-positive CL0001203
    CSI 1.86
    rCSI 2.25%
    PRS 78.77
  • retinal cone cell CL0000573
    CSI 1.79
    rCSI 2.88%
    PRS 89.45
  • basal cell of epidermis CL0002187
    CSI 1.3
    rCSI 2.31%
    PRS 71.23
  • melanocyte of skin CL1000458
    CSI 1.26
    rCSI 1.72%
    PRS 71.41

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.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • 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 [C20orf96](/details-gene/140680) is a protein-coding gene located on chromosome 20p13, first identified through large-scale human cDNA and genome sequencing projects [Link](https://doi.org/10.1038/nature03001), [Link](https://doi.org/10.1038/414865a). The gene encodes a protein that remains largely uncharacterized, with its only annotated molecular function being protein binding ([GO:0005515](https://www.ebi.ac.uk/QuickGO/term/GO:0005515)). **Overall** expression analysis reveals a highly specific and significant expression pattern, with its highest significance observed in [ciliated epithelial cells](/details-cell/CL0000067), particularly [lung ciliated cells](/details-cell/CL1000271). This strong association suggests a primary role in the structure or function of cilia. A secondary expression signature is noted in early B-lymphocyte progenitors, including [small pre-B-II cells](/details-cell/CL0000954) and [pro-B cells](/details-cell/CL0000826), pointing towards a potential, uncharacterized role in hematopoiesis. ## Cellular Roles and Expression Landscape The expression profile of [C20orf96](/details-gene/140680) is dominated by a strong and consistent signature in multiple types of ciliated cells. It is most significant in [ciliated epithelial cell](/details-cell/CL0000067) (CSI: 17.62) and its subtypes, such as [lung ciliated cell](/details-cell/CL1000271) (CSI: 15.89), [multi-ciliated epithelial cell](/details-cell/CL0005012) (CSI: 5.97), and [ciliated columnar cell of tracheobronchial tree](/details-cell/CL0002145) (CSI: 3.89). This pattern strongly suggests that [C20orf96](/details-gene/140680) is a key molecular player in tissues reliant on ciliary function, such as the respiratory tract. Beyond its role in ciliated epithelia, [C20orf96](/details-gene/140680) also shows significant expression in the hematopoietic system, specifically during early B-cell development. Its notable significance in [small pre-B-II cell](/details-cell/CL0000954) (CSI: 6.14), [pro-B cell](/details-cell/CL0000826) (CSI: 4.92), and [early lymphoid progenitor](/details-cell/CL0000936) (CSI: 3.10) cells suggests a potential function related to lymphoid lineage commitment or maturation. Additionally, moderate significance is observed in select neural and developmental cell types, including [astrocyte of the cerebral cortex](/details-cell/CL0002605) and [peripheral nervous system neuron](/details-cell/CL2000032), though its role in these contexts is less pronounced compared to its ciliated and lymphoid signatures. ## Pathways and Molecular Function The functional annotation for [C20orf96](/details-gene/140680) is currently limited. The Gene Ontology consortium annotates its molecular function as protein binding ([GO:0005515](https://www.ebi.ac.uk/QuickGO/term/GO:0005515)), a broad classification that is nonetheless consistent with a potential structural or regulatory role. In the context of its high expression in [ciliated cells](/details-cell/CL0000064), this protein-binding capacity may be integral to the assembly of the axoneme, the core microtubule structure of cilia, or in anchoring the cilium to the cell body. In developing B-cells, it might function as an adaptor protein within signaling complexes critical for cell fate decisions or survival during V(D)J recombination checkpoints. No specific Reactome pathways are currently associated with this gene, highlighting the need for further experimental characterization. ## Research Directions The highly specific expression pattern of the uncharacterized gene [C20orf96](/details-gene/140680) provides a strong foundation for targeted functional investigation. The dual signature in ciliated epithelia and early B-lymphocytes suggests two distinct and testable biological roles. ### Proposed Hypotheses 1. **[C20orf96](/details-gene/140680) is an essential component for the formation or function of motile cilia.** Given its profound expression in [lung ciliated cells](/details-cell/CL1000271), its deficiency may lead to defects in mucociliary clearance, potentially implicating it in the pathology of ciliopathies like Primary Ciliary Dyskinesia (PCD) or other chronic respiratory diseases. 2. **[C20orf96](/details-gene/140680) plays a regulatory role in early B-lymphocyte development.** Its specific expression in [pro-B](/details-cell/CL0000826) and [pre-B](/details-cell/CL0000954) cells suggests it may be involved in the signaling or transcriptional events governing the pro-B to pre-B cell transition. Loss of function could result in a developmental block, leading to B-cell immunodeficiency. ### Experimental Approach To test the primary hypothesis regarding its role in cilia, a functional genomics approach would be highly informative. A proposed experiment would involve using CRISPR-Cas9 to knock out [C20orf96](/details-gene/140680) in primary human bronchial epithelial cells. These cells would then be cultured at an air-liquid interface (ALI) to induce differentiation into a polarized, ciliated epithelium. The resulting culture could be assessed for ciliary defects using high-speed video microscopy to measure ciliary beat frequency (CBF) and transmission electron microscopy (TEM) to analyze the ultrastructure of the axoneme for defects characteristic of ciliopathies. ### Therapeutic Potential As an uncharacterized protein, the therapeutic potential of [C20orf96](/details-gene/140680) is entirely speculative but intriguing. If its function is critical and specific to ciliated cells, it could represent a future target for gene therapy in monogenic ciliopathies where the causative gene is [C20orf96](/details-gene/140680). Conversely, if its role in B-cell development is linked to malignancies such as pre-B cell acute lymphoblastic leukemia (B-ALL), its high specificity might make it a valuable target for inhibition via targeted therapies like small molecules or antibody-drug conjugates, potentially offering a therapeutic window with limited off-target effects on other tissues. Elucidation of its fundamental biology is a prerequisite for any translational consideration.

Genular Protein ID: 1787128429

Symbol: CT096_HUMAN

Name: Uncharacterized protein C20orf96

UniProtKB Accession Codes:

Q9NUD7 A3KPE0 B2RPH9 Q8N840 Q8NAX5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 1 ExpressionAtlas 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 2 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

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

Sequence Information:

  • Length: 363
  • Mass: 42859
  • Checksum: 0B1A597E972A7EAD
  • Sequence:
    • MAHVLQKPKH SGTHSIVQEF QVPDYVPWQQ SKQETKPSTL PPVQQANSLH TSKMKTLTRV 
QPVFHFKPTT VVTSCQPKNP RELHRRRKLD PGKMHAKIWL MKTSLRSGRA ALRELRSREN 
FLSKLNRELI ETIQEMENST TLHVRALLQQ QDTLATIIDI LEYSNKKRLQ QLKSELQEWE 
EKKKCKMSYL EQQAEQLNAK IEKTQEEVNF LSTYMDHEYS IKSVQISTLM RQLQQVKDSQ 
QDELDDLGEM RRKVLESLSD KIQKKKKKIL SSVVAETQRP YEEALLQKMW ESQDFLKCMQ 
RFREIIDQFE ENMPVLRAEV EELQAQTREP REVIFEDVLL RRPKCTPDMD VILNIPVEEP 
LPF

Genular Protein ID: 2101560508

Symbol: F5GZA9_HUMAN

Name: N/A

UniProtKB Accession Codes:

F5GZA9

Database IDs:

AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GeneTree 1 HGNC 1 InterPro 1 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 2 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 1 SMR 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 362
  • Mass: 42804
  • Checksum: 049E2D67F7F7B4C5
  • Sequence:
    • MSYKSRPKHS GTHSIVQEFQ VPDYVPWQQS KQETKPSTLP PVQQANSLHT SKMKTLTRVQ 
PVFHFKPTTV VTSCQPKNPR ELHRRRKLDP GKMHAKIWLM KTSLRSGRAA LRELRSRENF 
LSKLNRELIE TIQEMENSTT LHVRALLQQQ DTLATIIDIL EYSNKKRLQQ LKSELQEWEE 
KKKCKMSYLE QQAEQLNAKI EKTQEEVNFL STYMDHEYSI KSVQISTLMR QLQQVKDSQQ 
DELDDLGEMR RKVLESLSDK IQKKKKKILS SVVAETQRPY EEALLQKMWE SQDFLKCMQR 
FREIIDQFEE NMPVLRAEVE ELQAQTREPR EVIFEDVLLR RPKCTPDMDV ILNIPVEEPL 
PF

Genular Protein ID: 1146755154

Symbol: B7ZML9_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7ZML9

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 InterPro 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 1 RefSeq 1 SAM 1

Citations:

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

Sequence Information:

  • Length: 362
  • Mass: 42838
  • Checksum: 049E2268F7F8BBC5
  • Sequence:
    • MSYKSRPKHS GTHSIVQEFQ VPDYVPWQQS KQETKPSTLP PVQQANSLHT SKMKTLTRVQ 
PVFHFKPTTV VTSCQPKNPR ELHRRRKLDP GKMHAKIWLM KTSLRSGRAA LRELRSRENF 
LSKLNRELIE TIQEMENSTT LHVRALLQQQ DTLATIIDIL EYSNKKRLQQ LKSELQEWEE 
KKKCKMSYLE QQAEQLNAKI EKTQEEVNFL STYMDHEYSI KSVQISTLMR QLQQVKDSQQ 
DELDDLGEMR RKVLESLSDK IQKKKKKILS SVVAETQRPY EEALLQKMWE SQDFLKCMQR 
FREFIDQFEE NMPVLRAEVE ELQAQTREPR EVIFEDVLLR RPKCTPDMDV ILNIPVEEPL 
PF