Details for: C17orf67

Gene ID: 339210

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: C17orf67

Ensembl ID: ENSG00000214226

Description: chromosome 17 open reading frame 67

Cell Significance Landscape

Associated with

Significant Cells

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

  • pro-B cell CL0000826
    CSI 4.22
    rCSI 3.49%
    PRS 98.36
  • naive B cell CL0000788
    CSI 3.66
    rCSI 3.14%
    PRS 98.87
  • bronchus fibroblast of lung CL2000093
    CSI 3.19
    rCSI 2.6%
    PRS 98
  • megakaryocyte-erythroid progenitor cell CL0000050
    CSI 3.18
    rCSI 2.87%
    PRS 97.7
  • cerebral cortex endothelial cell CL1001602
    CSI 2.57
    rCSI 4.45%
    PRS 96.02
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 2.08
    rCSI 2.59%
    PRS 92.34
  • sst GABAergic cortical interneuron CL4023017
    CSI 1.96
    rCSI 2.53%
    PRS 94.03
  • enterocyte CL0000584
    CSI 1.87
    rCSI 3.02%
    PRS 96.04

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 [C17orf67](/details-gene/339210) is a protein-coding gene located on chromosome 17q22 whose function remains largely uncharacterized. Foundational genomic sequencing and cDNA collection projects have confirmed its existence and sequence [[Link](https://doi.org/10.1038/nature04689), [Link](https://doi.org/10.1101/gr.2596504)]. Gene Ontology annotations suggest its protein product is located in the extracellular region and is involved in protein binding. **Overall**, expression data reveals a broad yet distinct cellular landscape, with the highest significance observed in hematopoietic cells of the B-lymphocyte lineage, including [pro-B cell](/details-cell/CL0000826) and [naive B cell](/details-cell/CL0000788). Notably, it is also significantly expressed in diverse non-hematopoietic cell types, such as [bronchus fibroblast of lung](/details-cell/CL2000093) and various neuronal and endothelial cells, indicating a potential role in multiple biological contexts that is not yet understood. ## Cellular Roles and Expression Landscape The expression profile of [C17orf67](/details-gene/339210) suggests a potential role in early hematopoietic development and a surprisingly widespread function across disparate tissues. Its highest cell-specific significance is observed in the B-cell lineage, with a CSI of 4.22 in [pro-B cell](/details-cell/CL0000826) and 3.66 in [naive B cell](/details-cell/CL0000788). Its high significance in [megakaryocyte-erythroid progenitor cell](/details-cell/CL0000050) (CSI: 3.18) further supports a role in early hematopoiesis, potentially before lineage commitment is finalized. Beyond the hematopoietic system, [C17orf67](/details-gene/339210) demonstrates significant expression in a variety of other cell types. These include mesenchymal cells like [bronchus fibroblast of lung](/details-cell/CL2000093), vascular components such as [cerebral cortex endothelial cell](/details-cell/CL1001602), and specialized neurons, including [pvalb GABAergic cortical interneuron](/details-cell/CL4023018) and [sst GABAergic cortical interneuron](/details-cell/CL4023017). This diverse expression pattern in functionally unrelated cells is unusual for an uncharacterized gene and may suggest involvement in a fundamental biological process, such as cell-cell communication or interaction with the extracellular matrix, that is shared across these tissues. ## Pathways and Molecular Function Functional annotation for [C17orf67](/details-gene/339210) is currently minimal, reflecting its status as an uncharacterized gene. According to Gene Ontology, the protein is predicted to be localized to the extracellular region ([GO:0005576](https://www.ebi.ac.uk/QuickGO/term/GO:0005576)) and participate in protein binding ([GO:0005515](https://www.ebi.ac.uk/QuickGO/term/GO:0005515)). The combination of these annotations with its expression profile allows for preliminary hypotheses. As a secreted or membrane-associated protein, [C17orf67](/details-gene/339210) could function as a ligand, a co-receptor, or a structural component of the extracellular matrix. Its involvement in protein binding is consistent with such a role, where it might mediate interactions between cells or between cells and their surrounding environment. This function could be context-dependent, with different binding partners in the bone marrow B-cell niche compared to the neural or vascular microenvironments, potentially explaining its broad expression pattern. ## Research Directions The uncharacterized nature of [C17orf67](/details-gene/339210), combined with its intriguing expression pattern, presents several avenues for future research. ### Proposed Hypotheses: 1. Given its high significance in [pro-B cell](/details-cell/CL0000826) and [naive B cell](/details-cell/CL0000788), [C17orf67](/details-gene/339210) may function as an essential signaling molecule or adhesion factor that regulates early B-lymphocyte differentiation, survival, or migration within the bone marrow niche. 2. The broad expression across hematopoietic, mesenchymal, endothelial, and neuronal cells suggests that [C17orf67](/details-gene/339210) participates in a ubiquitous biological process, such as cellular adhesion or signaling through a common, widely expressed receptor, thereby contributing to tissue homeostasis in diverse anatomical locations. ### Key Experiments: To test the hypothesis that [C17orf67](/details-gene/339210) is critical for B-cell development (Hypothesis 1), a knockout mouse model would be highly informative. Analysis of the B-cell compartments in the bone marrow and secondary lymphoid organs of these mice using multi-color flow cytometry could reveal developmental blocks at specific stages (e.g., a reduction in pro-B cells or an accumulation of their precursors). Additionally, co-culture experiments using stromal cells that either express or lack [C17orf67](/details-gene/339210) could determine if it functions in a cell-extrinsic manner to support B-cell development *in vitro*. ### Therapeutic Potential: Assessing the therapeutic potential of [C17orf67](/details-gene/339210) is speculative at this stage. However, if its role in B-cell development is confirmed and it is found to be dysregulated in B-cell malignancies like leukemia or lymphoma, it could represent a novel therapeutic target. Its predicted extracellular location makes it an attractive candidate for antibody-based therapies, such as antibody-drug conjugates or monoclonal antibodies designed to block its function. The therapeutic strategy would likely involve inhibition to disrupt pathologic signaling or cell-cell interactions.

Genular Protein ID: 2224575109

Symbol: CQ067_HUMAN

Name: Uncharacterized protein C17orf67

UniProtKB Accession Codes:

Q0P5P2

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 3 Ensembl 1 GO 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 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 RNAct 1 RefSeq 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

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: 90
  • Mass: 10670
  • Checksum: 6354F62529C9F16C
  • Sequence:
    • MKTLPVLVLS LTLLTVFSET SPILTEKQAK QLLRSRRQDR PSKPGFPDEP MREYMHHLLA 
LEHRAEEQFL EHWLNPHCKP HCDRNRIHPV