Details for: C6orf120

Gene ID: 387263

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: C6orf120

Ensembl ID: ENSG00000185127

Description: chromosome 6 open reading frame 120

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • dendritic cell, human CL0001056
    CSI 3.89
    rCSI 5.97%
    PRS 98.98
  • goblet cell CL0000160
    CSI 3.48
    rCSI 3.29%
    PRS 96.13
  • pro-B cell CL0000826
    CSI 3.35
    rCSI 2.77%
    PRS 97.96
  • mesodermal cell CL0000222
    CSI 3.22
    rCSI 3.87%
    PRS 97.68
  • bronchus fibroblast of lung CL2000093
    CSI 3.17
    rCSI 2.58%
    PRS 97.36
  • ON-bipolar cell CL0000749
    CSI 2.99
    rCSI 4.44%
    PRS 96.04
  • IgA plasma cell CL0000987
    CSI 2.95
    rCSI 3.02%
    PRS 95.92
  • myeloid leukocyte CL0000766
    CSI 2.78
    rCSI 2.56%
    PRS 98.07
  • stromal cell CL0000499
    CSI 2.62
    rCSI 7.36%
    PRS 95.83
  • ciliated epithelial cell CL0000067
    CSI 2.61
    rCSI 2.3%
    PRS 92.81
  • colon epithelial cell CL0011108
    CSI 2.61
    rCSI 2.73%
    PRS 96.27
  • intestinal epithelial cell CL0002563
    CSI 2.4
    rCSI 2.51%
    PRS 96.09
  • basal cell CL0000646
    CSI 2.15
    rCSI 2.88%
    PRS 95.78
  • intestinal tuft cell CL0019032
    CSI 2.07
    rCSI 3.16%
    PRS 97.01
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 1.78
    rCSI 3.14%
    PRS 91.72
  • type B pancreatic cell CL0000169
    CSI 1.64
    rCSI 3.62%
    PRS 96.93
  • retinal cone cell CL0000573
    CSI 1.56
    rCSI 2.5%
    PRS 92.95
  • mesenchymal cell CL0008019
    CSI 1.12
    rCSI 2.85%
    PRS 95.9
  • podocyte CL0000653
    CSI 1.07
    rCSI 4.74%
    PRS 97.27

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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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 [C6orf120](/details-gene/387263) is a protein-coding gene located on human chromosome 6q27. Functionally, it is annotated as a protein involved in the [immune system](/details-gene/R-HSA-168256), particularly the [Innate immune system](/details-gene/R-HSA-168249) and processes such as [Neutrophil degranulation](/details-gene/R-HSA-6798695). It is also implicated in the [Apoptotic process](/details-gene/GO:0006915), with one study suggesting a role in the apoptosis of CD4+ T lymphocytes [Link](https://pubmed.ncbi.nlm.nih.gov/22340178). **Overall**, expression data reveals its significance in a diverse array of cell types, including high relevance in immune cells like [dendritic cell, human](/details-cell/CL0001056) and [pro-B cell](/details-cell/CL0000826), as well as in secretory epithelial cells such as [goblet cell](/details-cell/CL0000160), indicating potential roles in both immune surveillance and mucosal biology. ## Cellular Roles and Expression Landscape The expression profile of [C6orf120](/details-gene/387263) highlights its importance across multiple physiological systems, with a pronounced footprint in both the immune and epithelial compartments. **Overall**, its significance is highest in professional antigen-presenting cells, such as [dendritic cell, human](/details-cell/CL0001056) (CSI: 3.89), and in developing lymphocytes, including [pro-B cell](/details-cell/CL0000826) (CSI: 3.35) and [IgA plasma cell](/details-cell/CL0000987) (CSI: 2.95). High significance in [myeloid leukocyte](/details-cell/CL0000766) (CSI: 2.78) is consistent with its annotated role in neutrophil function. Concurrently, [C6orf120](/details-gene/387263) shows strong significance in various secretory and barrier cells, most notably [goblet cell](/details-cell/CL0000160) (CSI: 3.48), [ciliated epithelial cell](/details-cell/CL0000067) (CSI: 2.61), and [colon epithelial cell](/details-cell/CL0011108) (CSI: 2.61). This dual-expression pattern suggests a potential role for [C6orf120](/details-gene/387263) at the host-environment interface, possibly mediating crosstalk between the mucosal epithelial barrier and the resident immune system. Its expression in structural cells like [bronchus fibroblast of lung](/details-cell/CL2000093) (CSI: 3.17) and [stromal cell](/details-cell/CL0000499) (CSI: 2.62) further broadens its potential functions to include tissue organization and maintenance. ## Pathways and Molecular Function Functional annotations for [C6orf120](/details-gene/387263) firmly place it within the context of immunology and cellular regulation. Its involvement in the [Immune system](/details-gene/R-HSA-168256) is a central theme, underscored by its specific role in the [Innate immune system](/details-gene/R-HSA-168249) and the [Neutrophil degranulation](/details-gene/R-HSA-6798695) pathway. This is highly consistent with its cellular component annotation within the [Azurophil granule lumen](/details-cell/GO:0035578), a key secretory vesicle in neutrophils. The gene product's presence in the [Extracellular region](/details-cell/GO:0005576) suggests it may function as a secreted protein, which aligns with its high expression in secretory cell types like [goblet cell](/details-cell/CL0000160) and its role in degranulation. Furthermore, its annotation in the [Apoptotic process](/details-gene/GO:0006915), supported by research implicating it in T-cell apoptosis [Link](https://pubmed.ncbi.nlm.nih.gov/22340178), suggests a role in regulating immune cell homeostasis and turnover. Its fundamental molecular function is described as [Protein binding](/details-cell/GO:0005515), indicating that it likely exerts its effects through interactions with other protein partners. ## Research Directions The diverse expression pattern and functional annotations of [C6orf120](/details-gene/387263) suggest several avenues for future investigation. Its dual significance in both immune and epithelial cells points toward a role in mucosal immunology and host defense. **Proposed Hypotheses:** 1. Given its high expression in [pro-B cell](/details-cell/CL0000826) and its link to apoptosis, [C6orf120](/details-gene/387263) may be a critical regulator of B-lymphocyte development, potentially by modulating apoptotic checkpoints during B-cell maturation in the bone marrow. 2. Based on its high expression in secretory cells like [goblet cell](/details-cell/CL0000160), its annotation as an extracellular protein, and its connection to the innate immune system, secreted [C6orf120](/details-gene/387263) may function as an alarmin or signaling molecule at mucosal surfaces, mediating communication between the intestinal epithelium and underlying immune cells like [dendritic cell, human](/details-cell/CL0001056) during homeostasis or pathogen challenge. **Experimental Approach:** To test the second hypothesis, one could utilize a co-culture system of human intestinal organoids and monocyte-derived dendritic cells. CRISPR-Cas9-mediated knockout of [C6orf120](/details-gene/387263) in the organoids would allow for the assessment of its role in epithelial-immune crosstalk. Following a challenge with a pathogen-associated molecular pattern (PAMP) like lipopolysaccharide (LPS), changes in dendritic cell activation (e.g., via flow cytometry for CD86 expression) and cytokine secretion (e.g., via ELISA for TNF-alpha and IL-6) could be measured. This would directly probe whether epithelially-derived [C6orf120](/details-gene/387263) is necessary for mounting an effective innate immune response at the mucosal barrier. **Therapeutic Potential:** As a protein found in the extracellular space and implicated in key immune processes like apoptosis, [C6orf120](/details-gene/387263) presents a potentially accessible therapeutic target. Depending on whether its function is pro- or anti-apoptotic in specific contexts, it could be targeted for either inhibition or activation. For instance, if it promotes T-cell death, an inhibitory antibody against [C6orf120](/details-gene/387263) could be explored as a strategy to enhance anti-tumor immunity in oncology. Conversely, a recombinant form of the protein or a small molecule agonist could be investigated for its potential to induce apoptosis in pathogenic lymphocytes in the context of autoimmune disease.

Genular Protein ID: 3109738933

Symbol: CF120_HUMAN

Name: UPF0669 protein C6orf120

UniProtKB Accession Codes:

Q7Z4R8 B4DHE9 E1P5C9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 1 GO 3 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 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 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 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: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

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: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 22340178

Title: Role of C6ORF120, an N-glycosylated protein, is implicated in apoptosis of CD4+ T lymphocytes.

PubMed ID: 22340178

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

Sequence Information:

  • Length: 191
  • Mass: 20772
  • Checksum: 1B6B50EDFA54A9AD
  • Sequence:
    • MAAPRGRAAP WTTALLLLLA SQVLSPGSCA DEEEVPEEWV LLHVVQGQIG AGNYSYLRLN 
HEGKIVLRMR SLKGDADLYV SASSLHPSFD DYELQSATCG PDAVSIPAHF RRPVGIGVYG 
HPSHLESEFE MKVYYDGTVE QHPFGEAAYP ADGADAGQKH AGAPEDASQE EESVLWTILI 
SILKLVLEIL F

Genular Protein ID: 36153442

Symbol: B4DJ79_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DJ79

Database IDs:

ARBA 6 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 1 InterPro 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 1 RefSeq 1 SAM 2

Sequence Information:

  • Length: 210
  • Mass: 22595
  • Checksum: 2F73EE1565AB9981
  • Sequence:
    • MYKARPPAGS GGPGAEPPAM AAPRGRAAPW TTALLLLLAS QVLSPGSCAD EEEVPEEWVL 
LHVVQGQIGA GNYSYLRLNH EGKIVLRMRS LKGDADLYVS ASSLHPSFDD YELQSATCGP 
DAVSIPAHFR RPVSIGVYGH PSHLESEFEM KVYYDGTVEQ HPFGEAAYPA DGADAGQKHA 
GAPEDASQEE ESVLWTILIS ILKLVLEILF