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TGFB2

TGFB2

Reviewed July 2014

What is the official name of the TGFB2 gene?

The official name of this gene is “transforming growth factor, beta 2.”

TGFB2 is the gene's official symbol. The TGFB2 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the TGFB2 gene?

The TGFB2 gene provides instructions for producing a protein called transforming growth factor beta-2 (TGFβ-2). This protein is found throughout the body and is required for development before birth and throughout life. To carry out its functions, TGFβ-2 attaches (binds) to receptor proteins on the surface of cells. This binding triggers the transmission of signals within the cell, controlling various cellular activities. As part of a signaling pathway, the TGFβ-2 protein helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and controlled cell death (apoptosis). Because the TGFβ-2 protein keeps cells from growing and dividing too rapidly or in an uncontrolled way, it is also important in suppressing the formation of tumors.

The TGFβ-2 protein plays a role in the formation of blood vessels, the regulation of muscle tissue and body fat development, wound healing, and immune system function. TGFβ-2 is especially abundant in tissues that make up the skeleton, where it helps regulate bone growth, and in the intricate lattice that forms in the spaces between cells (the extracellular matrix).

Does the TGFB2 gene share characteristics with other genes?

The TGFB2 gene belongs to a family of genes called endogenous ligands (endogenous ligands).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the TGFB2 gene related to health conditions?

Loeys-Dietz syndrome - caused by mutations in the TGFB2 gene

At least 14 mutations in the TGFB2 gene have been found to cause Loeys-Dietz syndrome type IV. This disorder affects connective tissue, which gives structure and support to blood vessels, the skeleton, and many other parts of the body. Loeys-Dietz syndrome type IV is characterized by blood vessel abnormalities, heart defects, and skeletal deformities. The TGFB2 gene mutations that cause this condition lead to the production of a TGFβ-2 protein with little or no function. As a result, the protein cannot bind to its receptors. Although the TGFβ-2 protein and its receptors are not bound, cell signaling occurs at an even greater intensity than normal. Researchers speculate that the activity of proteins in this signaling pathway is increased to compensate for the reduction in TGFβ-2 activity; however the exact mechanism responsible for the increase in signaling is unclear. The overactive signaling pathway disrupts development of connective tissue and various body systems and leads to the varied signs and symptoms of Loeys-Dietz syndrome type IV.

A few mutations have been found that delete the entire TGFB2 gene and genetic material that surrounds it. People with these deletions often have the features of Loeys-Dietz syndrome as well as features not usually associated with the condition, such as intellectual disability and movement problems. Researchers are working to determine which genes are missing as a result of these deletions and how their loss contributes to the signs and symptoms of affected individuals.

Where is the TGFB2 gene located?

Cytogenetic Location: 1q41

Molecular Location on chromosome 1: base pairs 218,345,333 to 218,444,618

The TGFB2 gene is located on the long (q) arm of chromosome 1 at position 41.

The TGFB2 gene is located on the long (q) arm of chromosome 1 at position 41.

More precisely, the TGFB2 gene is located from base pair 218,345,333 to base pair 218,444,618 on chromosome 1.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about TGFB2?

You and your healthcare professional may find the following resources about TGFB2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the TGFB2 gene or gene products?

  • BSC-1 cell growth inhibitor
  • cetermin
  • glioblastoma-derived T-cell suppressor factor
  • G-TSF
  • polyergin
  • TGF-beta2
  • transforming growth factor beta-2

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding TGFB2?

apoptosis ; cell ; connective tissue ; differentiation ; disability ; extracellular ; extracellular matrix ; gene ; glioblastoma ; growth factor ; immune system ; proliferation ; protein ; receptor ; syndrome ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (5 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: July 2014
Published: September 29, 2014