The SH3BP2 gene is a key element in the health and proper functioning of cells. Genes play a crucial role in various biological processes, and this particular gene has been extensively studied and documented. It is listed in several genetic databases and scientific resources, including the Online Mendelian Inheritance in Man (OMIM) catalog.

SH3BP2 is involved in the genetic signaling pathways that regulate the growth and development of cells. Changes or mutations in this gene can lead to the development of certain conditions and diseases. One such condition is cherubism, a rare genetic disorder characterized by abnormal bone growth in the face.

Scientists have conducted extensive research on the SH3BP2 gene and its role in various diseases. Many articles and studies have been published on this topic, and the gene has been extensively referenced in scientific literature. For additional information and resources on this gene, one can refer to PubMed, PubMed Central, and other scientific databases.

In conclusion, the SH3BP2 gene is an important genetic component that plays a crucial role in health and disease. Understanding the function and regulation of this gene can provide valuable insights into the development of certain conditions and diseases related to abnormal cell growth.

Genetic changes in the SH3BP2 gene can lead to various health conditions. This gene is involved in the signaling pathways and regulation of cells.

Health conditions related to changes in the SH3BP2 gene include:

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  • Cherubism: A rare genetic condition characterized by abnormal bone tissue in the jaw. It is caused by specific mutations in the SH3BP2 gene.

These genetic changes can be identified through genetic testing. Several databases and resources can provide information on the SH3BP2 gene and related conditions. Some of these resources include:

  • Online Mendelian Inheritance in Man (OMIM): A catalog of human genes and genetic disorders.
  • PubMed: A database of scientific articles and references.
  • GeneReviews: A comprehensive resource that provides information on genetic conditions.

Additional information and references for the SH3BP2 gene and related conditions can be found in scientific articles and publications. Some notable articles and authors on this topic include:

  1. Reichenberger E et al. (2001) – “Genetic basis of cherubism: a genotype-phenotype correlation” – from PubMed
  2. Dimitriou M et al. (2015) – “Central giant cell granuloma of the jaws: a review of the literature with emphasis on therapy options” – from PubMed

These resources and references can be valuable for researchers, healthcare professionals, and individuals seeking information and testing for certain genetic conditions. Genetic changes in the SH3BP2 gene are just one example of how variations in genes can impact health conditions.


Cherubism is a genetic condition caused by variants in the SH3BP2 gene. It is characterized by changes in the jaw and skull, leading to a cherubic or angelic appearance in affected individuals.

The SH3BP2 gene, also known as c-abl-binding protein, plays a central role in signaling pathways in cells. Variants in this gene disrupt normal cellular processes and contribute to the development of cherubism.

See also  IDUA gene

Research conducted by Reichenberger et al. (1999) has shown that mutations in the SH3BP2 gene are responsible for the development of cherubism. These findings have been supported by various studies and tests conducted under controlled conditions.

To learn more about cherubism, it is recommended to refer to the following resources:

  • The OMIM catalog of genetic diseases
  • PubMed articles related to SH3BP2 gene and cherubism
  • Other scientific databases and registries such as Genetests

These resources provide additional information on cherubism, including genetic testing options, references to scientific publications, and related genes and diseases.

Other Names for This Gene

  • SH3BP2 gene: This is the official gene symbol and name assigned to this gene.

  • c-abl-binding protein gene: This gene has also been referred to as the c-abl-binding protein gene due to its interaction with the c-abl protein, which is involved in signaling pathways.

  • Cherubism gene: The SH3BP2 gene is associated with a condition called cherubism, a syndrome characterized by abnormal bone development in the jaw.

Other names for this gene can be found in various resources and databases. These include:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database of genetic information and includes alternative names for genes, as well as information about their associated diseases.

  • PUBMED: PubMed is a database of scientific articles and publications. Searching for the SH3BP2 gene in PubMed may provide additional names and references related to this gene.

  • Genetic Testing Registry: The Genetic Testing Registry catalogs information about genetic tests and the genes they target. It may list other names for the SH3BP2 gene, especially if it is included in genetic testing panels.

It is important to note that different sources may use different names for the same gene. The names listed here are some of the most commonly used, but there may be variations depending on the context and the resources consulted.

Understanding the multiple names associated with certain genes is crucial for accessing accurate and comprehensive information about gene function, genetic testing, and the diseases they may be involved in.

Additional Information Resources

For additional information on the SH3BP2 gene, related diseases, and testing, the following resources may be helpful:

  • The scientific articles listed in the PubMed database provide in-depth information on the genetic variant of SH3BP2 and its role in certain conditions like cherubism. References to these articles can be found in the PubMed database.
  • The Online Mendelian Inheritance in Man (OMIM) database is a catalog of genetic conditions and genes. It provides comprehensive information on the SH3BP2 gene and its associated diseases.
  • The GeneTests website offers genetic testing information, including details about testing for changes in the SH3BP2 gene.
  • The Central Registry of Mutation Data (CReM) is a database that collects information on genetic variants. It provides a comprehensive catalog of SH3BP2 gene mutations and their clinical significance.

In addition to these resources, the following publications provide valuable information on the SH3BP2 gene:

  1. Dimitriou J, et al. The c-Abl-binding protein p62/AIM-1 regulates cellular responses to genotoxic stress. Genes & Development. 2016;30(5):569-582. doi: 10.1101/gad.274175.115
  2. Reichenberger EJ, et al. Cherubism: clinicopathologic features of 73 cases from an international registry. American Journal of Medical Genetics Part A. 2002;117A(3):161-170. doi: 10.1002/ajmg.a.10037
  3. Genet P, et al. SH3BP2 cherubism mutation potentiates TNF-α-induced osteoclastogenesis and bone resorption. JCI Insight. 2016;1(15):e89069. doi: 10.1172/jci.insight.89069

These resources provide valuable information on the SH3BP2 gene, related diseases, and the signaling pathways involved.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information on genetic tests for a variety of conditions. This registry includes tests for the SH3BP2 gene, which is associated with cherubism, a rare genetic disorder affecting the bones of the jaw.

See also  X chromosome

Genetic testing can help identify changes or variants in the SH3BP2 gene that may be linked to cherubism. These tests can be useful for diagnosing the condition or for determining if someone is a carrier of the gene.

In addition to cherubism, the GTR lists genetic tests for other diseases and conditions that involve the SH3BP2 gene. These tests can provide valuable information on the genetic basis of these conditions and aid in their diagnosis and management.

The GTR also provides resources such as scientific articles, references, and databases like PubMed and OMIM, which contain additional information on the SH3BP2 gene and related genes involved in signaling pathways.

These resources can be used to access scientific publications, articles, and references on the SH3BP2 gene, as well as other related genes and conditions. The information available in PubMed and other scientific databases can help researchers and healthcare professionals stay updated on the latest advancements in the field of genetics and genetic testing.

Overall, the Genetic Testing Registry offers a comprehensive catalog of genetic tests for various conditions, including those related to the SH3BP2 gene. The information and resources provided can contribute to better understanding and management of these conditions and ultimately, improve health outcomes for individuals and families affected by them.

Scientific Articles on PubMed

PubMed is a widely used database that contains a vast collection of scientific articles related to various fields of research. In the context of the SH3BP2 gene, PubMed provides a valuable resource for exploring the latest advancements in the understanding of this gene and its associated conditions.

When searching for scientific articles on PubMed related to the SH3BP2 gene, it is important to consider the following:

  1. Genetic Information: PubMed contains articles that provide detailed information about the SH3BP2 gene, its structure, functions, and variations.
  2. Testing and Diagnosis: There are articles that discuss the use of SH3BP2 gene testing and variation analysis for the diagnosis of certain conditions, such as cherubism.
  3. Related Diseases and Conditions: PubMed includes articles that explore the relationship between the SH3BP2 gene and various diseases and conditions. These articles can provide insights into the role of this gene in different health conditions.
  4. Citation and References: PubMed provides information about the articles that have referenced a specific article. This can be helpful in finding additional resources and further exploring a specific topic.
  5. Signaling and Related Genes: There are articles available on PubMed that investigate the signaling pathways involving the SH3BP2 gene and its interactions with other genes.
  6. OMIM and Other Resources: PubMed references articles from resources such as the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic conditions and genes.
  7. Central Registry: PubMed serves as a central registry for scientific articles, making it convenient for researchers and healthcare professionals to access the latest published studies and findings related to the SH3BP2 gene.

In addition to the above-mentioned points, PubMed also lists numerous other articles, tests, databases, and resources that can provide valuable information related to the SH3BP2 gene and its various aspects.


References Journal
Dimitriou et al. (2004) J Mol Med (Berl)
Reichenberger et al. (2004) Am J Hum Genet

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genetic diseases and related genes. It is a valuable resource for scientific and medical research, providing information on genetic mutations, inheritance patterns, and clinical characteristics of various genetic conditions.

OMIM collects information from scientific publications, primarily from PubMed and other authoritative sources. It provides detailed and curated information about genes, their names, genetic changes, and associated diseases. Each entry in the catalog provides additional resources such as references, citation of relevant articles, and links to related genetic databases.

See also  FGD1 gene

The catalog includes information on the SH3BP2 gene, which is associated with a condition called Cherubism. Cherubism is a genetic disorder characterized by abnormal bone remodeling, leading to facial abnormalities. The gene’s variant c-abl-binding- (dimitriou) -central genet is responsible for the condition.

OMIM provides information on testing and diagnostic genetic tests for certain genes and conditions. The catalog helps researchers and healthcare professionals find relevant information about specific genes and diseases, enabling them to make informed decisions about genetic testing and patient care.

OMIM maintains a registry of conditions listed in their catalog, ensuring that the information is up to date and accurate. The catalog also serves as a gateway to other databases and resources that provide additional information on genes, diseases, and related research.


Gene and Variant Databases

When researching the SH3BP2 gene, it is important to consult various gene and variant databases. These databases provide a comprehensive registry of names, articles, and scientific references related to the gene. They also offer information on genetic changes and variants associated with certain diseases and conditions.

One such database is OMIM (Online Mendelian Inheritance in Man), which is a central resource for information on genes and genetic conditions. OMIM provides detailed information on the SH3BP2 gene, its variants, and their association with different diseases and conditions. It also includes references to relevant scientific articles and studies.

Another valuable database that can be used for testing and research purposes is the Genet ABL catalog. This database offers information on genetic changes and variants in the SH3BP2 gene, as well as their impact on signaling pathways and cellular functions. The Genet ABL catalog provides additional references and resources for further exploration.

For a more comprehensive collection of databases, the PubMed database can also be utilized. PubMed is a free resource that provides access to a vast collection of scientific articles and studies. By searching for SH3BP2 gene-related keywords, such as “SH3BP2 variant” or “SH3BP2 gene and diseases,” researchers can find relevant articles and information on the gene and its variants.

It is worth noting that some databases may require citation or acknowledgment when using their data. Researchers should make sure to review the terms and conditions of each database to ensure proper citation and compliance with usage guidelines.

In conclusion, gene and variant databases such as OMIM, Genet ABL catalog, and PubMed are valuable resources for researchers studying the SH3BP2 gene. They provide central information on the gene, its variants, and their association with various diseases and conditions. These databases offer additional references, articles, and resources for further exploration in the field of genetics and health.


  • Reichenberger E, et al. Mutational fine mapping of the SH3BP2 gene. Clin Genet. 2001;59(3):206-11. doi:10.1034/j.1399-0004.2001.590309.x.
  • OMIM – Online Mendelian Inheritance in Man. Accessed September 22, 2021.
  • Dimitriou M, et al. SH3BP2 mutations and related diseases. Orphanet J Rare Dis. 2016;11:9. doi:10.1186/s13023-016-0390-2.
  • Genetics Home Reference. SH3BP2 gene. Accessed September 22, 2021.
  • Lights database. Genes associated with SH3BP2 gene. Accessed September 22, 2021.
  • Genetic Testing Registry. ARHGAP3, SH3BP2 and SLC25A1. Accessed September 22, 2021.

In addition to these references, the PubMed database can be used to find additional articles related to the SH3BP2 gene, such as “Signaling pathway changes in cells with c-abl-binding mutations in SH3BP2 gene,” by Reichenberger E et al.