Details for: GSG1L2

Gene ID: 644070

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: GSG1L2

Ensembl ID: ENSG00000214978

Description: GSG1 like 2

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • diffuse bipolar 1 cell CL4033027
    CSI 1.74
    rCSI 13.12%
    PRS 100

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

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  • Node Color (Target Cell CSI, relative to current network):
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    • 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 [GSG1L2](/details-gene/644070) (Germ cell-specific gene 1-like 2) is a protein-coding gene located on human chromosome 17p13.1, first described in the complete sequencing of this chromosome ([Link](https://doi.org/10.1038/nature04689)). Functional annotation localizes the protein product to the plasma membrane, suggesting a role in cell signaling, adhesion, or transport. **Overall**, expression data indicates that [GSG1L2](/details-gene/644070) is a highly specific marker for the `[diffuse bipolar 1 cell](/details-cell/CL4033027)`, a type of retinal interneuron, pointing towards a specialized function within the neural circuitry of the eye. ## Cellular Roles and Expression Landscape The expression profile of [GSG1L2](/details-gene/644070) appears to be highly cell-type specific. **Overall**, the gene shows its most significant expression in the `[diffuse bipolar 1 cell](/details-cell/CL4033027)` (CSI: 1.74). These cells are a class of bipolar neurons in the retina that play a crucial role in transmitting signals from photoreceptor cells to ganglion cells. The specific and significant expression of [GSG1L2](/details-gene/644070) in this particular cell type suggests it is not a general neuronal marker but rather a gene involved in the unique identity or function of this specific interneuron subclass. The lack of broad expression suggests a specialized role, likely confined to the visual system. ## Pathways and Molecular Function Based on Gene Ontology annotations, the [GSG1L2](/details-gene/644070) protein is a component of the `[Plasma membrane](/details-cell/GO:0005886)`. This localization is consistent with a potential role as a receptor, ion channel, adhesion molecule, or a component of a signaling complex at the cell surface. In the context of its expression in a `[diffuse bipolar 1 cell](/details-cell/CL4033027)`, [GSG1L2](/details-gene/644070) may be involved in modulating synaptic transmission, establishing or maintaining specific synaptic connections, or responding to extracellular cues within the retinal microenvironment. ## Research Directions The highly specific expression of [GSG1L2](/details-gene/644070) in a single retinal cell type, combined with its limited characterization, presents several avenues for future research. Investigating its expression profile in the context of retinal diseases, such as retinitis pigmentosa or macular degeneration, could reveal potential involvement in pathology. ### Proposed Hypotheses 1. **[GSG1L2](/details-gene/644070) functions as a modulator of synaptic signaling in the retina.** Given its plasma membrane localization and expression in a bipolar neuron, it may act as a receptor or channel that fine-tunes the signal transfer between photoreceptors and ganglion cells. 2. **[GSG1L2](/details-gene/644070) is essential for the structural integrity or developmental specification of diffuse bipolar 1 cells.** The gene could be a cell-surface adhesion molecule required for correct lamination and connectivity of these neurons during retinal development. ### Experimental Approach To test the hypothesis that [GSG1L2](/details-gene/644070) modulates synaptic signaling, a knockout mouse model could be generated. Electroretinography (ERG) analysis of these mice would be a key experiment to assess retinal function. A specific alteration in the b-wave, which reflects bipolar cell activity, would provide strong evidence for a functional role in these cells. Furthermore, immunohistochemistry and single-cell RNA-sequencing on retinal tissue from the knockout model could reveal compensatory changes and confirm the loss of protein expression specifically in `[diffuse bipolar 1 cell](/details-cell/CL4033027)`. ### Therapeutic Potential The therapeutic potential of [GSG1L2](/details-gene/644070) is currently speculative but intriguing due to its high cell-type specificity. If its dysfunction is linked to a retinal degenerative disease, its specific expression pattern makes it an attractive target for gene therapy or cell-specific drug delivery, potentially minimizing off-target effects. However, a thorough understanding of its function is required. If it proves to be a critical cell-surface receptor, it could be a target for small molecules or biologics designed to either inhibit or activate its function, depending on its role in the disease mechanism.

Genular Protein ID: 2967440729

Symbol: GS1L2_HUMAN

Name: N/A

UniProtKB Accession Codes:

A8MUP6 K7EL98

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 Ensembl 1 GO 1 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 InterPro 2 KEGG 1 MANE-Select 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PaxDb 1 PeptideAtlas 1 Pfam 1 Pharos 1 PhylomeDB 1 Proteomes 1 RNAct 1 RefSeq 1 SMR 1 STRING 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 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

Sequence Information:

  • Length: 293
  • Mass: 32443
  • Checksum: 5B379C0A0EA62815
  • Sequence:
    • MDRAKQQQAL LLLPVCLALT FSLTAVVSSH WCEGTRRVVK PLCQDQPGGQ HCIHFKRDNS 
SNGRMDNNSQ AVLYIWELGD DKFIQRGFHV GLWQSCEESL NGEDEKCRSF RSVVPAEEQG 
VLWLSIGGEV LDIVLILTSA ILLGSRVSCR SPGFHWLRVD ALVAIFMVLA GLLGMVAHMM 
YTTIFQITVN LGPEDWKPQT WDYGWSYCLA WGSFALCLAV SVSAMSRFTA ARLEFTEKQQ 
AQNGSRHSQH SFLEPEASES IWKTGAAPCP AEQAFRNVSG HLPPGAPGKV SIC