Details for: TMEM250

Gene ID: 90120

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: TMEM250

Ensembl ID: ENSG00000238227

Description: transmembrane protein 250

Cell Significance Landscape

Associated with

Significant Cells

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

  • secretory cell CL0000151
    CSI 3.63
    rCSI 3.79%
    PRS 95.97
  • CD14-low, CD16-positive monocyte CL0002396
    CSI 3.16
    rCSI 2.44%
    PRS 98.18
  • ciliated epithelial cell CL0000067
    CSI 3.13
    rCSI 2.75%
    PRS 91.25
  • multi-ciliated epithelial cell CL0005012
    CSI 2.85
    rCSI 2.84%
    PRS 93.12
  • extravillous trophoblast CL0008036
    CSI 2.71
    rCSI 3.36%
    PRS 95.32
  • intestinal epithelial cell CL0002563
    CSI 2.59
    rCSI 2.71%
    PRS 95.07
  • transit amplifying cell of colon CL0009011
    CSI 2.5
    rCSI 2.93%
    PRS 96.72
  • respiratory hillock cell CL4030023
    CSI 2.32
    rCSI 4.14%
    PRS 97.73
  • ciliated cell CL0000064
    CSI 2.31
    rCSI 3.74%
    PRS 92.04
  • stem cell CL0000034
    CSI 2.26
    rCSI 2.18%
    PRS 94.93
  • club cell CL0000158
    CSI 1.99
    rCSI 2.91%
    PRS 94.63

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 [TMEM250](/details-gene/90120) is a protein-coding gene located on chromosome 9q34.3. Functional annotations suggest it plays a multifaceted role in fundamental cellular processes, including `cilium assembly` ([GO:0060271](https://www.ebi.ac.uk/QuickGO/term/GO:0060271)), `cytoskeleton-dependent cytokinesis` ([GO:0061640](https://www.ebi.ac.uk/QuickGO/term/GO:0061640)), and `positive regulation of cell population proliferation` ([GO:0008284](https://www.ebi.ac.uk/QuickGO/term/GO:0008284)). Its molecular functions are linked to `Gtpase activity` ([GO:0003924](https://www.ebi.ac.uk/QuickGO/term/GO:0003924)) and `molecular adaptor activity` ([GO:0060090](https://www.ebi.ac.uk/QuickGO/term/GO:0060090)). Consistent with these roles, its expression is highly significant in various ciliated, secretory, and proliferative cell types, including `ciliated epithelial cell` and `transit amplifying cell of colon`. Additionally, research indicates it can function as a host factor to promote viral proliferation [Link](https://doi.org/10.1007/s12250-011-3179-8). ## Cellular Roles and Expression Landscape The **Overall** expression profile of [TMEM250](/details-gene/90120) highlights its significance in distinct cellular contexts related to motility, proliferation, and secretion. * **Ciliated Tissues:** The gene shows prominent significance in multiple ciliated cell types, including `ciliated epithelial cell` (CSI: 3.13), `multi-ciliated epithelial cell` (CSI: 2.85), and `ciliated cell` (CSI: 2.31). This expression pattern strongly supports its annotated role in `cilium assembly` ([GO:0060271](https://www.ebi.ac.uk/QuickGO/term/GO:0060271)) and suggests it is a key component of the ciliary machinery, particularly in respiratory and other epithelial tissues. * **Highly Proliferative Cells:** [TMEM250](/details-gene/90120) is a significant marker in cell populations characterized by high rates of division. This includes `extravillous trophoblast` (CSI: 2.71) in the placenta, `transit amplifying cell of colon` (CSI: 2.50), and `stem cell` (CSI: 2.26). This is consistent with its localization to the `septin ring` ([GO:0005940](https://www.ebi.ac.uk/QuickGO/term/GO:0005940)) and its function in `cytoskeleton-dependent cytokinesis` ([GO:0061640](https://www.ebi.ac.uk/QuickGO/term/GO:0061640)). * **Secretory and Immune Cells:** The gene is also highly significant in `secretory cell` (CSI: 3.63) and `club cell` (CSI: 1.99), indicating a potential role in specialized epithelial functions. Its notable significance in `CD14-low, CD16-positive monocyte` (CSI: 3.16) suggests a possible, though less defined, role in this inflammatory immune cell subset, perhaps linked to cytoskeletal dynamics or signaling. ## Pathways and Molecular Function The functions of [TMEM250](/details-gene/90120) are closely tied to cytoskeletal organization and cellular division. Its annotation with `cytoskeleton-dependent cytokinesis` ([GO:0061640](https://www.ebi.ac.uk/QuickGO/term/GO:0061640)) is supported by its localization to the `cell division site` ([GO:0032153](https://www.ebi.ac.uk/QuickGO/term/GO:0032153)), `microtubule cytoskeleton` ([GO:0015630](https://www.ebi.ac.uk/QuickGO/term/GO:0015630)), and `septin complex` ([GO:0031105](https://www.ebi.ac.uk/QuickGO/term/GO:0031105)). These roles are critical in highly proliferative cells where it is prominently expressed. Similarly, its involvement in `cilium assembly` ([GO:0060271](https://www.ebi.ac.uk/QuickGO/term/GO:0060271)) provides a direct molecular explanation for its high significance in ciliated cells. The gene's annotated `Gtpase activity` ([GO:0003924](https://www.ebi.ac.uk/QuickGO/term/GO:0003924)) and `molecular adaptor activity` ([GO:0060090](https://www.ebi.ac.uk/QuickGO/term/GO:0060090)) suggest it may function as a regulatory switch or scaffold, coordinating protein interactions during these dynamic cytoskeletal rearrangements. Furthermore, [TMEM250](/details-gene/90120) has been identified as a host protein that promotes the proliferation of Herpes Simplex Virus 1 (HSV-1) through interaction with the viral UL25 protein [Link](https://doi.org/10.1007/s12250-011-3179-8). This finding directly substantiates its annotated function in the `positive regulation of viral process` ([GO:0048524](https://www.ebi.ac.uk/QuickGO/term/GO:0048524)) and implies it may be co-opted by viruses to manipulate host cell machinery. ## Research Directions The diverse functions of [TMEM250](/details-gene/90120) in cell division, ciliary function, and viral pathogenesis present several avenues for future investigation. **Testable Hypotheses:** 1. Given its high expression in ciliated cells and its annotated role in cilium assembly, [TMEM250](/details-gene/90120) is essential for ciliogenesis in airway epithelia, and its dysregulation could be a contributing factor to primary ciliary dyskinesia or other ciliopathies. 2. Based on its high significance in rapidly dividing cells like `transit amplifying cell of colon` and its localization to the septin ring, [TMEM250](/details-gene/90120) is a critical regulator of cytokinesis in intestinal crypts, and its loss may lead to aneuploidy and contribute to tumorigenesis. 3. The GTPase or molecular adaptor function of [TMEM250](/details-gene/90120) is a common vulnerability exploited by a range of viruses beyond HSV-1 to remodel the host cytoskeleton for efficient viral assembly and egress. **Proposed Experimental Approach:** To test the first hypothesis regarding its role in ciliogenesis, an *in vitro* model using primary human bronchial epithelial cells differentiated at an air-liquid interface (ALI) would be highly informative. CRISPR-Cas9-mediated knockout of [TMEM250](/details-gene/90120) would be performed prior to differentiation. The consequences could be assessed by quantifying ciliary density and length via immunofluorescence staining for acetylated tubulin, analyzing ultrastructure with transmission electron microscopy, and measuring ciliary beat frequency using high-speed video microscopy. A significant defect in any of these parameters in knockout cells compared to controls would provide strong evidence for its essential role in airway ciliary biogenesis and function. **Therapeutic Potential:** As a host factor required for viral proliferation, [TMEM250](/details-gene/90120) presents a potential target for host-directed antiviral therapies. **Inhibition** of its function could disrupt the life cycle of viruses like HSV-1. Small molecules designed to block its putative GTPase active site or its interaction with viral proteins could serve as novel antiviral agents. However, its fundamental roles in cytokinesis and ciliary maintenance in healthy tissues pose a significant risk of on-target toxicity with systemic administration. Therefore, therapeutic strategies would likely require targeted delivery (e.g., via inhalation for respiratory viruses) or the development of inhibitors that specifically disrupt the virus-host protein interaction without affecting its endogenous functions.

Genular Protein ID: 1554352199

Symbol: TM250_HUMAN

Name: N/A

UniProtKB Accession Codes:

H0YL14

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 EMBL 2 Ensembl 3 ExpressionAtlas 1 GO 15 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 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 Pharos 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 2 STRING 1 SignaLink 1 UCSC 1 VEuPathDB 1 eggNOG 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

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: 21667337

Title: Host cell protein C9orf69 promotes viral proliferation via interaction with HSV-1 UL25 protein.

PubMed ID: 21667337

DOI: 10.1007/s12250-011-3179-8

Sequence Information:

  • Length: 139
  • Mass: 16083
  • Checksum: 482DDEB661FD9A72
  • Sequence:
    • MPVMPIPRRV RSFHGPHTTC LHAACGPVRA SHLARTKYNN FDVYIKTRWL YGFIRFLLYF 
SCSLFTAALW GALAALFCLQ YLGVRVLLRF QRKLSVLLLL LGRRRVDFRL VNELLVYGIH 
VTMLLVGGLG WCFMVFVDM