# Bioinformatic analysis of the regulatory potential of tagging SNPs provides evidence of the involvement of genes encoding the heat-resistant obscure (Hero) proteins in the pathogenesis of cardiovascular diseases

**Authors:** Vladislav V. Shilenok, Irina V. Shilenok, Vladislav O. Soldatov, Yuriy L. Orlov, Ksenia A. Kobzeva, Alexey V. Deykin, Olga Yu Bushueva

PMC · DOI: 10.1515/jib-2024-0043 · Journal of Integrative Bioinformatics · 2025-06-03

## TL;DR

This study uses bioinformatics to show that genes encoding Hero-proteins may play a role in the development of cardiovascular diseases.

## Contribution

The study provides in silico evidence linking Hero-protein genes to cardiovascular disease risk factors.

## Key findings

- Genes C9orf16 (BBLN), C11orf58, SERBP1, SERF2, and C19orf53 show regulatory potential related to cardiovascular diseases.
- Tag SNPs in these genes influence histone modifications and transcription factor binding relevant to CVDs.
- The findings suggest Hero-proteins are involved in the pathobiology of heart and vascular diseases.

## Abstract

Although multiple aspects of molecular pathology underlying cardiovascular diseases (CVDs) have been revealed, the complete picture has yet to be elucidated. In this respect, annotation of the novel links between genes and atherosclerosis is of great importance for cardiovascular medicine. Aligning with our previous research, we aimed to analyze the cardiovascular predisposition contribution of the genes encoding Hero-proteins, polypeptides with chaperone activity. Following bioinformatic sources were utilized to annotate data regarding the cardiovascular contribution of Hero-proteins and their genes: SNPinfo Web Server, The Cardiovascular Disease Knowledge Portal, GTEx Portal, HaploReg, rSNPBase, RegulomeDB, atSNP, Gene Ontology, QTLbase, and the Blood eQTL browser. Almost all analyzed genes were characterized by a very high regulatory potential of tag SNPs (except BEX3). Multiple substantial impacts of the analyzed SNPs on histone modifications, eQTL effects on CVD-related genes, and binding to transcription factors involved in biological processes pathogenetically significant for CVDs have been discovered. Here we provide in silico evidence of the involvement of genes C9orf16 (BBLN), C11orf58, SERBP1, SERF2, and C19orf53 in CVDs and their risk factors (high blood pressure, dyslipidemia, obesity, arrhythmias, etc.), thus revealing Hero-proteins as putative actors in the pathobiology of the heart and vessels.

## Linked entities

- **Genes:** BBLN (bublin coiled coil protein) [NCBI Gene 79095], BBLN (bublin coiled coil protein) [NCBI Gene 79095], C11orf58 (chromosome 11 open reading frame 58) [NCBI Gene 10944], SERBP1 (SERPINE1 mRNA binding protein 1) [NCBI Gene 26135], SERF2 (small EDRK-rich factor 2) [NCBI Gene 10169], C19orf53 (chromosome 19 open reading frame 53) [NCBI Gene 28974], BEX3 (brain expressed X-linked 3) [NCBI Gene 27018]
- **Diseases:** atherosclerosis (MONDO:0005311), high blood pressure (MONDO:0005044), dyslipidemia (MONDO:0002525), obesity (MONDO:0011122)

## Full-text entities

- **Genes:** C11orf58 (chromosome 11 open reading frame 58) [NCBI Gene 10944] {aka Hero20, IMAGE145052, SMAP}, BBLN (bublin coiled coil protein) [NCBI Gene 79095] {aka C9orf16, EST00098, Hero9}, C19orf53 (chromosome 19 open reading frame 53) [NCBI Gene 28974] {aka HSPC023, Hero11, L10K, LYDG10}, SERF2 (small EDRK-rich factor 2) [NCBI Gene 10169] {aka 4F5REL, FAM2C, H4F5REL, Hero7, HsT17089}, SERBP1 (SERPINE1 mRNA binding protein 1) [NCBI Gene 26135] {aka CGI-55, CHD3IP, HABP4L, Hero45, PAI-RBP1, PAIRBP1}, BEX3 (brain expressed X-linked 3) [NCBI Gene 27018] {aka Bex, DXS6984E, HGR74, Hero20, NADE, NGFRAP1}
- **Diseases:** pressure (MESH:D003668), CVDs (MESH:D002318), dyslipidemia (MESH:D050171), obesity (MESH:D009765), atherosclerosis (MESH:D050197), arrhythmias (MESH:D001145)

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12327200/full.md

## References

73 references — full list in the complete paper: https://tomesphere.com/paper/PMC12327200/full.md

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Source: https://tomesphere.com/paper/PMC12327200