Details for: VWA7

Gene ID: 80737

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: VWA7

Ensembl ID: ENSG00000204396

Description: von Willebrand factor A domain containing 7

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • ciliated cell CL0000064
    CSI 2.86
    rCSI 4.64%
    PRS 99.76
  • basal cell of epidermis CL0002187
    CSI 1.97
    rCSI 3.49%
    PRS 96.02

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):
    • Very High
    • 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 [VWA7](/details-gene/80737) (von Willebrand factor A domain containing 7) is a protein-coding gene located on chromosome 6p21.33 within the gene-dense Major Histocompatibility Complex (MHC) class III region [Link](https://doi.org/10.1101/gr.1736803). The gene encodes a protein characterized by a von Willebrand factor A (vWA) domain, suggesting a function in protein-protein interactions, likely within the extracellular environment. Expression data indicates that **Overall**, [VWA7](/details-gene/80737) is most significantly expressed in specialized epithelial cells, particularly [ciliated cells](/details-cell/CL0000064) and [basal cells of the epidermis](/details-cell/CL0002187). This pattern suggests a specialized role in maintaining the integrity and function of mucosal and cutaneous barriers. ## Cellular Roles and Expression Landscape The expression profile of [VWA7](/details-gene/80737) points toward a specific function in epithelial tissues that form interfaces with the external environment. * **Top Expression Contexts:** Its most significant expression is in [ciliated cells](/details-cell/CL0000064) (CSI: 2.86), which are essential for mucociliary clearance in the respiratory tract. This strong association suggests a potential role for [VWA7](/details-gene/80737) in cilia function, mucus organization, or the maintenance of the airway epithelial surface. * **Secondary Expression Contexts:** Significant expression is also observed in the [basal cell of epidermis](/details-cell/CL0002187) (CSI: 1.97). These cells are the regenerative stem cells of the skin, responsible for maintaining the epidermal barrier. The presence of [VWA7](/details-gene/80737) in this cell type may indicate a role in epidermal homeostasis, cell adhesion, or the regulation of differentiation. Notably, [VWA7](/details-gene/80737) is located within the human MHC class III region, an area of the genome critical for immune function [Link](https://doi.org/10.1038/nature02055). However, its primary expression appears to be in these non-classical immune, epithelial cell types, suggesting a specialized function separate from canonical immune processes. ## Pathways and Molecular Function Detailed molecular pathways involving [VWA7](/details-gene/80737) are not well-defined. The current functional annotation is broad, assigning it to high-level processes such as [biological_process ([GO:0008150](https://www.ebi.ac.uk/QuickGO/term/GO:0008150))](https://www.ebi.ac.uk/QuickGO/term/GO:0008150) and [molecular_function ([GO:0003674](https://www.ebi.ac.uk/QuickGO/term/GO:0003674))](https://www.ebi.ac.uk/QuickGO/term/GO:0003674). The most informative annotations are its protein structure and cellular location. The presence of a von Willebrand factor A domain, a well-known protein-protein interaction module often involved in cell adhesion, combined with its localization to the [extracellular region ([GO:0005576](https://www.ebi.ac.uk/QuickGO/term/GO:0005576))](https://www.ebi.ac.uk/QuickGO/term/GO:0005576), strongly suggests a role in mediating interactions between cells or between cells and the extracellular matrix (ECM). This function is highly consistent with its expression in barrier tissues like the epidermis and ciliated epithelia, where structural integrity and cell-matrix communication are paramount. ## Research Directions The specific role of [VWA7](/details-gene/80737) in human biology remains an open area of investigation, but its distinct expression pattern and structural motifs allow for the formulation of several testable hypotheses. * **Proposed Hypotheses:** 1. Given its high significance in [ciliated cells](/details-cell/CL0000064), [VWA7](/details-gene/80737) may be secreted into the airway surface liquid where it functions to organize the periciliary layer or interact with mucins, thereby playing a direct role in the mechanics of mucociliary clearance. 2. Based on its expression in [basal cells of the epidermis](/details-cell/CL0002187), [VWA7](/details-gene/80737) may act as a matricellular protein that modulates integrin signaling or growth factor availability to regulate the balance between stem cell self-renewal and differentiation during skin repair. 3. Studies on the murine ortholog, *G7c*, have suggested a possible link to lung tumor susceptibility [Link](https://doi.org/10.1007/s002510050634). Therefore, altered expression or function of [VWA7](/details-gene/80737) in lung epithelia could modulate the tumor microenvironment, potentially impacting cancer cell adhesion, migration, or proliferation. * **Suggested Experimental Approach:** To test the hypothesis that [VWA7](/details-gene/80737) is involved in mucociliary function (Hypothesis 1), an *in vitro* model using primary human bronchial epithelial cells differentiated at an air-liquid interface (ALI) would be ideal. CRISPR-Cas9-mediated knockout or shRNA-mediated knockdown of [VWA7](/details-gene/80737) could be performed. The functional consequences would be assessed by measuring ciliary beat frequency via high-speed video microscopy, mucus transport velocity using fluorescent microbeads, and analyzing the ultrastructure of the cilia and periciliary layer with transmission electron microscopy. * **Therapeutic Potential:** The therapeutic potential of [VWA7](/details-gene/80737) is currently speculative but intriguing. As a protein predicted to be in the extracellular space, it represents an accessible target for biologic therapies such as monoclonal antibodies. If its suggested association with lung tumor susceptibility is confirmed in human studies [Link](https://doi.org/10.1007/s002510050634), and it is found to be overexpressed and to promote malignancy, it could be a candidate for inhibitory antibody therapy. Conversely, if it functions as a tumor suppressor whose loss contributes to disease, protein replacement or gene therapy might be explored.

Genular Protein ID: 2152999002

Symbol: VWA7_HUMAN

Name: von Willebrand factor A domain-containing protein 7

UniProtKB Accession Codes:

Q9Y334 A2BEX8 A6NHR6 B0V041 Q5SSR5 Q96QC8 Q9UMP9

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 9 Ensembl 5 ExpressionAtlas 1 GO 1 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 RefSeq 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 14656967

Title: Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse.

PubMed ID: 14656967

DOI: 10.1101/gr.1736803

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 10803853

Title: G7c, a novel gene in the mouse and human major histocompatibility complex class III region, possibly controlling lung tumor susceptibility.

PubMed ID: 10803853

DOI: 10.1007/s002510050634

Sequence Information:

  • Length: 891
  • Mass: 96060
  • Checksum: FAA559F2B63752FF
  • Sequence:
    • MLPTEVPQSH PGPSALLLLQ LLLPPTSAFF PNIWSLLAAP GSITHQDLTE EAALNVTLQL 
FLEQPPPGRP PLRLEDFLGR TLLADDLFAA YFGPGSSRRF RAALGEVSRA NAAQDFLPTS 
RNDPDLHFDA ERLGQGRARL VGALRETVVA ARALDHTLAR QRLGAALHAL QDFYSHSNWV 
ELGEQQPHPH LLWPRQELQN LAQVADPTCS DCEELSCPRN WLGFTLLTSG YFGTHPPKPP 
GKCSHGGHFD RSSSQPPRGG INKDSTSPGF SPHHMLHLQA AKLALLASIQ AFSLLRSRLG 
DRDFSRLLDI TPASSLSFVL DTTGSMGEEI NAAKIQARHL VEQRRGSPME PVHYVLVPFH 
DPGFGPVFTT SDPDSFWQQL NEIHALGGGD EPEMCLSALQ LALLHTPPLS DIFVFTDASP 
KDAFLTNQVE SLTQERRCRV TFLVTEDTSR VQGRARREIL SPLRFEPYKA VALASGGEVI 
FTKDQHIRDV AAIVGESMAA LVTLPLDPPV VVPGQPLVFS VDGLLQKITV RIHGDISSFW 
IKNPAGVSQG QEEGGGPLGH TRRFGQFWMV TMDDPPQTGT WEIQVTAEDT PGVRVQAQTS 
LDFLFHFGIP MEDGPHPGLY PLTQPVAGLQ TQLLVEVTGL GSRANPGDPQ PHFSHVILRG 
VPEGAELGQV PLEPVGPPER GLLAASLSPT LLSTPRPFSL ELIGQDAAGR RLHRAAPQPS 
TVVPVLLELS GPSGFLAPGS KVPLSLRIAS FSGPQDLDLR TFVNPSFSLT SNLSRAHLEL 
NESAWGRLWL EVPDSAAPDS VVMVTVTAGG REANPVPPTH AFLRLLVSAP APQDRHTTPT 
GSSDPILTTA TPAFSPFTLV TQGRAGAGLA AGSPWWGTVG GVLLLLGLAS W