Details for: ERLN

Gene ID: 100130933

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: ERLN

Ensembl ID: ENSG00000259120

Description: endoregulin

Cell Significance Landscape

Associated with

Significant Cells

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

  • renal alpha-intercalated cell CL0005011
    CSI 30.34
    rCSI 40.56%
    PRS 87.87
  • multi-ciliated epithelial cell CL0005012
    CSI 26.14
    rCSI 26.09%
    PRS 76.56
  • ciliated epithelial cell CL0000067
    CSI 24.13
    rCSI 21.22%
    PRS 72.16
  • enteroendocrine cell CL0000164
    CSI 10.36
    rCSI 14.15%
    PRS 81.98
  • deuterosomal cell CL4033044
    CSI 10.02
    rCSI 33.87%
    PRS 79.18
  • pancreatic D cell CL0000173
    CSI 7.87
    rCSI 7.74%
    PRS 84.79
  • P/D1 enteroendocrine cell CL0002268
    CSI 6.99
    rCSI 38.08%
    PRS 89.06
  • type EC enteroendocrine cell CL0000577
    CSI 6.95
    rCSI 24.66%
    PRS 85.92
  • pancreatic A cell CL0000171
    CSI 6.58
    rCSI 6.89%
    PRS 85.43
  • goblet cell CL0000160
    CSI 6.51
    rCSI 6.15%
    PRS 80.95
  • intestine goblet cell CL0019031
    CSI 6.03
    rCSI 5.35%
    PRS 80.36
  • stem cell CL0000034
    CSI 5.69
    rCSI 5.49%
    PRS 76.5
  • foveolar cell of stomach CL0002179
    CSI 5.66
    rCSI 12.06%
    PRS 87.69
  • type L enteroendocrine cell CL0002279
    CSI 4.68
    rCSI 8.79%
    PRS 88.26
  • lung ciliated cell CL1000271
    CSI 4.22
    rCSI 4.87%
    PRS 75.13
  • colon epithelial cell CL0011108
    CSI 3.84
    rCSI 4.02%
    PRS 79.99
  • intestinal epithelial cell CL0002563
    CSI 3.48
    rCSI 3.63%
    PRS 80.11
  • enteroendocrine cell of colon CL0009042
    CSI 3.21
    rCSI 15.05%
    PRS 89.06
  • M cell of gut CL0000682
    CSI 3.14
    rCSI 3.34%
    PRS 86.88
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 2.91
    rCSI 6.63%
    PRS 76.05
  • renal beta-intercalated cell CL0002201
    CSI 2.7
    rCSI 6.45%
    PRS 82.4
  • endocrine cell CL0000163
    CSI 2.53
    rCSI 13%
    PRS 94.59
  • mucous neck cell CL0000651
    CSI 2.27
    rCSI 3.27%
    PRS 88.24
  • kidney collecting duct intercalated cell CL1001432
    CSI 2.18
    rCSI 15.58%
    PRS 80.02
  • pancreatic ductal cell CL0002079
    CSI 1.89
    rCSI 3.67%
    PRS 85.35
  • type B pancreatic cell CL0000169
    CSI 1.8
    rCSI 3.99%
    PRS 81.9
  • pancreatic epsilon cell CL0005019
    CSI 1.67
    rCSI 7.77%
    PRS 89.5
  • hematopoietic stem cell CL0000037
    CSI 1.59
    rCSI 1.06%
    PRS 84.93
  • suprabasal keratinocyte CL4033013
    CSI 1.36
    rCSI 2.22%
    PRS 50
  • kidney connecting tubule epithelial cell CL1000768
    CSI 1.35
    rCSI 3.44%
    PRS 73.42
  • pancreatic PP cell CL0002275
    CSI 1.32
    rCSI 5.27%
    PRS 88.62
  • enteroendocrine cell of small intestine CL0009006
    CSI 1.25
    rCSI 2.75%
    PRS 88.89

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.

Comma-separated if multiple.
Comma-separated if multiple.
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 [ERLN](/details-gene/100130933), or Endoregulin, is a protein-coding gene located on human chromosome 17q25.1. It encodes a small integral membrane protein whose function is not yet fully characterized ([Link](https://doi.org/10.1038/nature04689)). **Overall** expression data reveals that [ERLN](/details-gene/100130933) is a highly significant marker for specialized epithelial cells, with its most prominent expression observed in [renal alpha-intercalated cells](/details-cell/CL0005011), [multi-ciliated epithelial cells](/details-cell/CL0005012), and various subtypes of [enteroendocrine cells](/details-cell/CL0000164). This pattern suggests a role in highly specific physiological processes such as ion transport, mucociliary clearance, and hormone secretion in epithelial tissues. ## Cellular Roles and Expression Landscape The expression profile of [ERLN](/details-gene/100130933) points to a specialized function within distinct epithelial cell populations. The gene shows its highest significance in [renal alpha-intercalated cells](/details-cell/CL0005011) (CSI: 30.34), which are critical for acid-base homeostasis in the kidney. This is closely followed by high significance in cell types characterized by motile cilia, including [multi-ciliated epithelial cells](/details-cell/CL0005012) (CSI: 26.14) and [ciliated epithelial cells](/details-cell/CL0000067) (CSI: 24.13), suggesting a potential role in ciliogenesis or ciliary function in tissues like the respiratory tract. A second major functional cluster for [ERLN](/details-gene/100130933) expression is the neuroendocrine system of the gastrointestinal tract and pancreas. It is a significant marker in a broad array of [enteroendocrine cells](/details-cell/CL0000164) (CSI: 10.36), including [pancreatic D cells](/details-cell/CL0000173) (CSI: 7.87), [P/D1 enteroendocrine cells](/details-cell/CL0002268) (CSI: 6.99), and [pancreatic A cells](/details-cell/CL0000171) (CSI: 6.58). This pattern is consistent with a potential involvement in the regulation of hormone synthesis or secretion. Furthermore, its expression in secretory cells like [goblet cells](/details-cell/CL0000160) and [foveolar cells of the stomach](/details-cell/CL0002179) further reinforces its association with specialized glandular and mucosal epithelial functions. ## Pathways and Molecular Function Functional annotation for [ERLN](/details-gene/100130933) is currently limited, with its protein product primarily associated with the cell membrane ([GO:0016020](https://www.ebi.ac.uk/QuickGO/term/GO:0016020)). As a small integral membrane protein, its function is likely tied to its cellular location. In the context of its high expression in [renal alpha-intercalated cells](/details-cell/CL0005011), it may participate in membrane-associated protein complexes involved in ion transport. In ciliated and secretory cells, it could be involved in membrane trafficking, protein localization to the apical surface, or cell signaling events. The gene was identified as part of a large-scale cDNA sequencing project that characterized thousands of human genes ([Link](https://doi.org/10.1038/ng1285)). However, its precise molecular pathway and interaction partners remain to be elucidated. ## Research Directions The specific expression pattern of [ERLN](/details-gene/100130933) in terminally differentiated epithelial cells provides a foundation for several testable hypotheses regarding its function. 1. **Hypothesis 1:** Given its exceptionally high significance in [renal alpha-intercalated cells](/details-cell/CL0005011), [ERLN](/details-gene/100130933) may function as a regulator or an auxiliary component of the vacuolar-type H+-ATPase (V-ATPase) proton pump, thereby playing a direct role in urinary acidification and systemic acid-base balance. 2. **Hypothesis 2:** The strong association of [ERLN](/details-gene/100130933) with multiple ciliated cell types ([multi-ciliated epithelial cell](/details-cell/CL0005012), [lung ciliated cell](/details-cell/CL1000271)) suggests it is involved in the biogenesis, structural integrity, or function of motile cilia. Its disruption could lead to defects in mucociliary clearance in the airways. 3. **Hypothesis 3:** Its consistent expression across diverse [enteroendocrine cell](/details-cell/CL0000164) populations suggests [ERLN](/details-gene/100130933) may be part of a common pathway regulating the exocytosis of hormone-containing vesicles in response to luminal or systemic signals. **Experimental Approach:** To test Hypothesis 2, one could utilize an *in vitro* air-liquid interface (ALI) culture system with primary human bronchial epithelial cells to induce differentiation into a ciliated epithelium. CRISPR-Cas9-mediated knockout of [ERLN](/details-gene/100130933) in these cells would allow for a direct assessment of its role. The impact on ciliogenesis could be quantified using immunofluorescence microscopy for ciliary markers (e.g., acetylated α-tubulin), while ciliary function could be assessed by measuring ciliary beat frequency with high-speed video microscopy and analyzing mucociliary transport velocity. **Therapeutic Potential:** As an integral membrane protein with a highly restricted expression profile, [ERLN](/details-gene/100130933) presents potential as a therapeutic target or diagnostic marker. If its role in renal acid-base balance is confirmed, it could be a target for modulating kidney function in metabolic acidosis. Similarly, if essential for ciliary function, it could be relevant to ciliopathies or chronic respiratory diseases characterized by impaired mucus clearance. Because its function is unknown, it is premature to specify whether inhibition or activation would be beneficial; however, its cell-surface accessibility could make it amenable to targeting by monoclonal antibodies or other biologics for cell-specific drug delivery.

Genular Protein ID: 3970301124

Symbol: SMIM6_HUMAN

Name: Small integral membrane protein 6

UniProtKB Accession Codes:

P0DI80

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 DNASU 1 EMBL 2 Ensembl 2 GO 1 GeneCards 1 GeneTree 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pharos 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 2 SMR 1 STRING 1 TCDB 1 UCSC 1 VEuPathDB 1 eggNOG 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: 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: 62
  • Mass: 7017
  • Checksum: CA605EB69C41AD08
  • Sequence:
    • MDQLVFKETI WNDAFWQNPW DQGGLAVIIL FITAVLLLIL FAIVFGLLTS TENTQCEAGE 
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