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The information on this page was automatically extracted from online scientific databases.

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?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

This gene encodes a member of the transforming growth factor beta (TGFB) family of cytokines, which are multifunctional peptides that regulate proliferation, differentiation, adhesion, migration, and other functions in many cell types by transducing their signal through combinations of transmembrane type I and type II receptors (TGFBR1 and TGFBR2) and their downstream effectors, the SMAD proteins. Disruption of the TGFB/SMAD pathway has been implicated in a variety of human cancers. The encoded protein is secreted and has suppressive effects of interleukin-2 dependent T-cell growth. Translocation t(1;7)(q41;p21) between this gene and HDAC9 is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. The knockout mice lacking this gene show perinatal mortality and a wide range of developmental, including cardiac, defects. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2010]

From UniProtThis link leads to a site outside Genetics Home Reference.:

TGF-beta 2 has suppressive effects on interleukin-2 dependent T-cell growth.

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

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the TGFB2 gene.
  • Loeys-Dietz syndrome, type 4[1]This link leads to a site outside Genetics Home Reference.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
Main Topic

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?

  • LDS4
  • TGF-beta2

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?

aneurysm ; anterior ; aortic dissection ; arachnodactyly ; bifid ; cardiac ; cell ; congenital ; differentiation ; ectasia ; gene ; growth factor ; hemorrhage ; hypertelorism ; isoforms ; joint ; proliferation ; protein ; scoliosis ; syndrome ; tortuosity ; transcript ; translocation ; transmembrane ; uvula

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

See also Understanding Medical Terminology.


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.

Published: April 17, 2014