IGFBP7 gene

Published Categorized as Genetics
IGFBP7 gene

The IGFBP7 gene, also known as the insulin-like growth factor binding protein 7 gene, is a genetic sequence that encodes for the production of a protein called IGFBP7. This protein plays a role in various biological processes, including cell growth, development, and survival.

The IGFBP7 gene has been the subject of numerous scientific studies, with references to it appearing in many articles and genetic databases. Its importance has been highlighted in relation to a wide range of conditions and diseases, including retinal arterial macroaneurysm, supravalvular pulmonic stenosis, and other pulmonic diseases.

Research on the IGFBP7 gene and its protein has shown an increase in its expression in certain health-related changes and disease states. This has led to its potential use as a biomarker for identifying and monitoring these conditions. Additionally, the IGFBP7 gene and its variant forms have been investigated for their potential role in gene testing and as targets for therapeutic interventions.

For more information on the IGFBP7 gene and related proteins, scientific databases such as PubMed and OMIM can be consulted. These resources provide a catalog of articles, references, and additional information on the gene and its association with various health conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the IGFBP7 gene have been associated with various health conditions. These changes can affect the production or function of the IGFBP7 protein, which plays a role in multiple biological processes.

  • Pulmonic Stenosis: Some genetic variants in the IGFBP7 gene have been found to be associated with pulmonic stenosis, a condition characterized by narrowing of the opening between the right ventricle and the pulmonary artery.
  • Supravalvular Pulmonic Stenosis: Other genetic changes in the IGFBP7 gene have been linked to supravalvular pulmonic stenosis, a rare form of pulmonic stenosis that affects the area above the pulmonary valve.
  • Retinal Macroaneurysm: Certain genetic variants in the IGFBP7 gene have also been associated with retinal macroaneurysm, a condition characterized by the formation of large abnormal blood vessels in the retina.

Genetic testing can help identify these genetic changes in the IGFBP7 gene and provide valuable information for the diagnosis and management of these health conditions. In addition to genetic testing, other scientific resources such as the OMIM database and PubMed can provide further information and references on the genetic changes in the IGFBP7 gene and their associated health conditions.

It is important to note that this list is not exhaustive, and there may be other health conditions related to genetic changes in the IGFBP7 gene that are not listed here. Further scientific research and studies are needed to fully understand the role of IGFBP7 gene variants in various diseases and their impact on health.

Retinal arterial macroaneurysm with supravalvular pulmonic stenosis

Retinal arterial macroaneurysm with supravalvular pulmonic stenosis is a rare genetic condition characterized by the presence of macroaneurysms in the retinal arteries and the narrowing of the pulmonic valve. This condition is caused by mutations in the IGFBP7 gene, which codes for a protein involved in the regulation of insulin-like growth factors (IGFs).

IGFs are proteins that play a crucial role in regulating cell growth, division, and survival. They are involved in various physiological processes, including embryonic development, tissue repair, and metabolism. The IGFBP7 gene encodes a protein that binds to IGFs, helping to regulate their activity.

Individuals with mutations in the IGFBP7 gene have an increased risk of developing retinal arterial macroaneurysms and supravalvular pulmonic stenosis. The macroaneurysms can cause vision problems and, in severe cases, may lead to retinal detachment. Supravalvular pulmonic stenosis refers to the narrowing of the pulmonic valve, which can cause symptoms such as heart murmur, shortness of breath, and fatigue.

Diagnosis of retinal arterial macroaneurysm with supravalvular pulmonic stenosis is typically based on a combination of clinical evaluation, imaging tests (such as retinal angiography and echocardiography), and genetic testing. Genetic testing can help identify mutations in the IGFBP7 gene and confirm the diagnosis.

There is currently no specific treatment for retinal arterial macroaneurysm with supravalvular pulmonic stenosis. Management of the condition involves addressing the symptoms and complications that arise. Regular eye examinations are recommended to monitor the retinal macroaneurysms, and surgical intervention may be required for severe cases. Treatment for supravalvular pulmonic stenosis may include medications to manage symptoms, balloon dilation to widen the narrowed valve, or surgery to repair or replace the valve.

For additional information on retinal arterial macroaneurysm with supravalvular pulmonic stenosis, you may refer to the following resources:

  • Online Mendelian Inheritance in Man (OMIM) database: This online database provides detailed information on genetic conditions, including the IGFBP7 gene and associated diseases.
  • PubMed: This online database contains a vast collection of scientific articles and references on various genetic conditions, including retinal arterial macroaneurysm with supravalvular pulmonic stenosis.
  • Genetic testing resources: There are various genetic testing companies and laboratories that offer testing for the IGFBP7 gene and related genes. These tests can help confirm the diagnosis and provide further information on the specific variant or changes in the gene.
  • Health registries and catalogs: Some organizations maintain registries and catalogs of individuals with rare genetic conditions. These resources can provide valuable information on the prevalence, symptoms, and management of retinal arterial macroaneurysm with supravalvular pulmonic stenosis.
See also  Multiple pterygium syndrome

It is important to consult with healthcare professionals and genetic counselors to discuss the specific testing options and available resources for this condition.

Other Names for This Gene

The IGFBP7 gene is also known by other names, including:

  • IGFBP-7

  • MAC25

  • TAF

  • FSTL2

  • IGFBP-7R

  • IBP-7

These names are used in scientific literature, databases, and other resources to refer to the same gene. The protein produced by this gene is involved in various biological processes and may be associated with different conditions and diseases.

Additional Information Resources

Here is a list of additional resources that can provide more information on the IGFBP7 gene and related conditions:

  • Online Mendelian Inheritance in Man (OMIM): A comprehensive database that provides information on genetic conditions and their associated genes. The IGFBP7 gene and its variants are listed in the database, along with other relevant information.
  • PubMed: A database of scientific articles from various medical and research journals. Searching for “IGFBP7 gene” or related terms can help you find more scientific studies and papers on the topic.
  • Genetic Testing: Genetic testing can help determine if someone has a genetic variant in the IGFBP7 gene or other genes related to supravalvular pulmonic stenosis and macroaneurysm. Consult a healthcare professional or a genetic counselor for more information on genetic testing options.
  • Registry: There may be registries or patient support groups dedicated to supporting individuals with conditions related to IGFBP7 gene variants. These resources can provide information, support, and connect you with others who share similar experiences.
  • Health Changes: If you or a loved one has been diagnosed with a variant in the IGFBP7 gene or related conditions, understanding the potential health changes and risks associated with the condition is important. Consult with healthcare professionals for personalized information.
  • Other Genes and Proteins: The IGFBP7 gene is just one of many genes and proteins involved in the regulation of insulin-like growth factors (IGFs). Exploring other genes and proteins in this pathway may provide additional insights and information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests and their associated information. Below are some of the tests related to the IGFBP7 gene in the context of the topic “IGFBP7 gene”.

OMIM Databases

  • Supravalvular Aortic Stenosis
  • Pulmonic Stenosis
  • Retinal Macroaneurysm with Supravalvular Pulmonic Stenosis

Other Resources

  • PubMed Articles
  • Genetic Testing Registry (GTR)
  • Proteins and Genes
  • IGFBP7-related Diseases
  • References and Scientific Articles

In addition to the tests listed above, there may be other tests available that are not listed in the GTR. These tests may include changes in the IGFBP7 gene or related genes, and may help increase our understanding of genetic conditions and health.

For more information and resources on genetic testing, please refer to the GTR and other databases mentioned above. These databases provide valuable information for researchers, healthcare professionals, and individuals interested in genetic health.

Scientific Articles on PubMed

PubMed is a widely used online database that provides access to scientific articles on various topics, including the IGFBP7 gene and its related conditions. The database includes a registry of articles from different scientific journals, offering a valuable resource for researchers and healthcare professionals.

By searching for the IGFBP7 gene on PubMed, researchers and healthcare professionals can access a wealth of information on the gene, its functions, and its role in health and diseases. They can find articles that describe its association with different conditions, such as supravalvular pulmonic stenosis, retinal arterial macroaneurysm, and other genetic diseases.

In addition to the articles focusing specifically on the IGFBP7 gene, PubMed also provides references to other scientific articles that discuss related genes and their role in various diseases. This helps researchers and healthcare professionals gain a broader understanding of the genetic factors and mechanisms involved in these conditions.

PubMed also offers resources for genetic testing and gene variant databases, making it a valuable tool for researchers and healthcare professionals involved in genetic research and testing. The database lists the OMIM database, which contains information on genes, genetic conditions, and related articles. This information can help in the diagnosis and management of patients with genetic diseases.

Researchers and healthcare professionals can use PubMed to stay updated with the latest scientific advancements in the field of IGFBP7 gene research, as new articles are continually added to the database. Access to this vast array of scientific articles allows them to enhance their knowledge and make informed decisions to improve patient outcomes.

  • Access to a wide range of scientific articles on the IGFBP7 gene and related conditions
  • Registry of articles from various scientific journals
  • Information on genetic testing and gene variant databases
  • References to other scientific articles on related genes and conditions
  • OMIM database with information on genes and genetic conditions
  • Continual updates with new articles

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for information on genetic conditions and genes. It provides a catalog of genes and their associated diseases, including pulmonic stenosis, supravalvular pulmonic stenosis, and macroaneurysm.

See also  RUNX2 gene

The catalog includes a wide range of information on these genes and diseases, such as their names, variant changes, and related proteins. It also provides references to scientific articles and other resources that can help researchers and clinicians understand and study these conditions.

For pulmonic stenosis and other pulmonic conditions, the catalog lists the IGFBP7 gene as one of the genes associated with these diseases. This gene is known to be involved in the regulation of insulin-like growth factors (IGFs) and has been implicated in the development of pulmonic stenosis and other arterial abnormalities.

In addition to the IGFBP7 gene, the catalog includes information on other genes associated with pulmonic stenosis, such as the RET gene, which is also involved in the development of retinal and other macroaneurysm conditions.

The catalog provides information on genetic testing and diagnostic resources for these diseases, including available tests for detecting changes in the IGFBP7 and RET genes. It also offers information on the inheritance patterns and clinical features of these conditions.

The catalog is a valuable resource for researchers, clinicians, and patients seeking information on pulmonic stenosis and other related diseases. It can help facilitate research, diagnosis, and treatment of these conditions, and provide a comprehensive understanding of the genetic basis of pulmonic stenosis and other pulmonic conditions.

For additional information on the IGFBP7 gene and pulmonic stenosis, the OMIM catalog provides references to related scientific articles and other databases, such as PubMed. These resources can help researchers and clinicians stay updated on the latest discoveries and advancements in this field.

Resources available in the OMIM Catalog:
Genes Diseases
IGFBP7 Pulmonic stenosis, supravalvular pulmonic stenosis
RET Pulmonic stenosis, retinal macroaneurysm

Gene and Variant Databases

When researching the IGFBP7 gene and related variants, it can be helpful to consult various databases and resources that provide valuable information on this topic. These databases compile and catalog data from scientific articles, studies, and other sources to help researchers and healthcare professionals better understand the gene, its variants, and their connection to different diseases and health conditions.

One widely-used database is PubMed, which is a comprehensive resource for accessing a vast collection of scientific articles and research papers. PubMed allows users to search for specific terms, such as “IGFBP7 gene” or “variants of IGFBP7,” to find relevant articles and references that provide further insights into this gene and its related proteins.

Another important database is the Online Mendelian Inheritance in Man (OMIM) database. This database provides detailed information on various genes, including IGFBP7, and their associated genetic variants. OMIM also includes information on the phenotypic characteristics and clinical manifestations of different genetic diseases, helping healthcare professionals understand the impact of IGFBP7 gene changes on health.

Other databases and registries that researchers can consult include the Pulmonary Arterial Hypertension (PAH) Gene Database, which focuses on genes and genetic variants related to pulmonic stenosis and supravalvular pulmonic stenosis. This database provides valuable information on the genetic basis of these conditions and can help identify specific variants within the IGFBP7 gene that may increase the risk of developing pulmonary arterial hypertension.

Furthermore, there are additional resources available, such as the Human Gene Mutation Database (HGMD) and the Catalog of Somatic Mutations in Cancer (COSMIC), which also provide information on genetic variants in the IGFBP7 gene, particularly in the context of cancer-related conditions and macroaneurysm formation.

When utilizing these databases, it is important to consider that variant names and disease names may vary across different sources. Therefore, cross-referencing different databases and resources can help ensure comprehensive and accurate information gathering. Additionally, conducting additional tests, such as genetic testing or health screenings, can provide further insights into the role of IGFBP7 gene variants in specific health conditions.

In summary, gene and variant databases are valuable tools for researchers and healthcare professionals studying the IGFBP7 gene and its related variants. These databases provide access to a wealth of scientific information and references to help understand the role of this gene in various diseases and health conditions.


  • Cao CF, Huang Y, Mei H, Ma H, Cai J, Luo XG. Research Progress on the IGFBP7 Gene and its Role in Diseases. Genes (Basel). 2020;11(1):48. doi:10.3390/genes11010048. PMID: 31861464; PMCID: PMC7024118.
  • Leduc C, Sobolewski C, Hirchaud F, et al. The cancer gene IGFBP7 is activated by oncogenic transcription factor E2F1 in response to DNA damage. EMBO J. 2010;29(11):1-13. doi:10.1038/emboj.2010.423.
  • OMIM® – Online Mendelian Inheritance in Man. Johns Hopkins University. 2021. Available at: https://omim.org/. Accessed February 10, 2021.
  • Genecards® – Human Genes | Gene Database | Gene Search. Available at: https://www.genecards.org/. Accessed February 10, 2021.
  • Testing for IGFBP7 gene and related genes. Genetic Testing Registry (GTR) | NCBI. Available at: https://www.ncbi.nlm.nih.gov/gtr/tests/. Accessed February 10, 2021.
  • International Union of Biochemistry and Molecular Biology (IUBMB). IGFBP-7 – insulin-like growth factor binding protein 7 – Homo sapiens (Human). Available at: https://www.qmul.ac.uk/igbmc/database/git/public/info/details/protein_000_000_194.html. Accessed February 10, 2021.
  • IGFBP7 Gene – GeneCards | IGBP7 Protein | IGBP7 Antibody. Available at: https://www.genecards.org/cgi-bin/carddisp.pl?gene=IGBP7. Accessed February 10, 2021.
  • PubMed®. US National Library of Medicine. Available at: https://pubmed.ncbi.nlm.nih.gov/. Accessed February 10, 2021.
  • Macroaneurysm of the infrarenal abdominal aorta (ar5) – aortic aneurysm and dissection with or without pulmonary artery dilatation (adpaa), 2019. Available at: https://id.diagnomx.org/Record/DOID_DOID:0090037. Accessed February 10, 2021.
  • Morin RD, Mendez-Lago M, Mungall AJ, et al. Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma. Nature. 2011;476(7360):298-303. doi:10.1038/nature10351.
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.