Details for: TMEM221

Gene ID: 100130519

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: TMEM221

Ensembl ID: ENSG00000188051

Description: transmembrane protein 221

Cell Significance Landscape

Associated with

Significant Cells

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

  • retinal cone cell CL0000573
    CSI 2.32
    rCSI 3.73%
    PRS 99.51
  • glial cell CL0000125
    CSI 1.55
    rCSI 5.89%
    PRS 99.64

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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  • Node Color (Target Cell CSI, relative to current network):
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    • High
    • Medium
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    • 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 Transmembrane protein 221, encoded by the [TMEM221](/details-gene/100130519) gene, is a protein-coding gene located on chromosome 19p13.11 [Link](https://doi.org/10.1038/nature02399). Functional characterization of [TMEM221](/details-gene/100130519) is currently limited, with its primary annotation pointing to its localization within the cell membrane. Expression data indicate a highly specific role within the nervous system, with significant expression observed in [retinal cone cells](/details-cell/CL0000573) and [glial cells](/details-cell/CL0000125). ## Cellular Roles and Expression Landscape The expression profile of [TMEM221](/details-gene/100130519) suggests a specialized function within neuro-sensory and associated support tissues. **Overall**, the gene exhibits its highest significance in two key cell types: * **[Retinal cone cell](/details-cell/CL0000573):** Shows the highest significance score (CSI: 2.32), indicating that [TMEM221](/details-gene/100130519) may be a defining marker or play a critical functional role in these photoreceptor cells responsible for color vision and high-acuity sight. * **[Glial cell](/details-cell/CL0000125):** Displays the second-highest significance (CSI: 1.55), suggesting a potential role in the supportive functions provided by glia within the central nervous system, which could include structural maintenance, metabolic support, or regulation of the neuronal environment. The strong and specific expression pattern within these cell types points towards a specialized role for [TMEM221](/details-gene/100130519) in the biology of the retina and the broader nervous system. ## Pathways and Molecular Function The known molecular function of [TMEM221](/details-gene/100130519) is primarily derived from its structural classification. * **Cellular Component:** It is annotated as an integral component of the [Membrane](/details-go/GO:0016020) ([GO:0016020](https://www.ebi.ac.uk/QuickGO/term/GO:0016020)). This localization is consistent with its predicted transmembrane structure and suggests it may function as a receptor, channel, or adhesion molecule, mediating interactions between the cell and its environment or adjacent cells. The specific biological pathways involving [TMEM221](/details-gene/100130519) have not yet been elucidated. However, its membrane localization in [retinal cone cells](/details-cell/CL0000573) and [glial cells](/details-cell/CL0000125) is consistent with potential roles in cell signaling, ion transport, or cell-cell communication essential for visual processing and neural function. ## Research Directions The specific expression pattern and limited functional data for [TMEM221](/details-gene/100130519) open several avenues for future investigation. **Proposed Testable Hypotheses:** 1. Given its high significance in [retinal cone cells](/details-cell/CL0000573), [TMEM221](/details-gene/100130519) may play a crucial role in photoreceptor health, function, or survival. Its dysfunction could be implicated in congenital color blindness or progressive retinal dystrophies affecting cone cells. 2. The notable expression in [glial cells](/details-cell/CL0000125) suggests that [TMEM221](/details-gene/100130519) could be involved in glial-neuron communication, particularly in the retina where Müller glia provide critical support to photoreceptors. It might function in ion homeostasis or neurotransmitter recycling pathways necessary for maintaining retinal function. **Suggested Key Experiments:** To test the hypothesis that [TMEM221](/details-gene/100130519) is essential for cone cell function, a targeted knockout of the gene in a mouse model could be employed. The resulting phenotype could be assessed using electroretinography (ERG) to specifically measure cone-mediated light responses. Furthermore, immunohistochemistry and transmission electron microscopy on retinal sections from knockout animals could reveal structural abnormalities in cone photoreceptor outer segments, synapses, or overall cell viability. **Therapeutic Potential:** The therapeutic potential of [TMEM221](/details-gene/100130519) is currently speculative but intriguing. If future studies confirm its role in the survival and function of [retinal cone cells](/details-cell/CL0000573), it could emerge as a potential target for gene therapy. For inherited retinal diseases caused by loss-of-function mutations in [TMEM221](/details-gene/100130519), delivering a functional copy of the gene via adeno-associated virus (AAV) vectors could be a viable strategy to restore cone function and prevent vision loss. However, a thorough understanding of its role in both photoreceptors and [glial cells](/details-cell/CL0000125) is necessary before considering any therapeutic intervention.

Genular Protein ID: 1006248488

Symbol: TM221_HUMAN

Name: Transmembrane protein 221

UniProtKB Accession Codes:

A6NGB7

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 1 Ensembl 1 GO 1 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 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 Pharos 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

Sequence Information:

  • Length: 291
  • Mass: 30293
  • Checksum: 99DAFE4307961118
  • Sequence:
    • MARSYGGRVL AAMTLLGIAA AVLAALGAQL LFQLQAGRAE LRGLRAEGLG QELGAGPGLP 
EDAAGTLLPL AAALAALVLV LGFTCLLLAA LCGHLGAELA RGPGPRRSDW FLYDCRLLRH 
VALGLFCCGI SVYLAALSIY ALLLFEIETG AAAASILGSG TLVLVAVLTH TLLRAARAAR 
RGLHELSPPS FEDDLARPAE VSKASPRAQP QQGIHRRTPY STCPEPGDPF GSMATATAPA 
ALEGGWESSL PASRMHRTLS AGLGHWDGVT HEMRRMLGHR PGSMGKDSTL V