What is the official name of the TNFSF11 gene?
The official name of this gene is “tumor necrosis factor (ligand) superfamily, member 11.”
TNFSF11 is the gene's official symbol. The TNFSF11 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 TNFSF11 gene?
- From NCBI Gene:
This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dentritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. This protein was shown to activate antiapoptotic kinase AKT/PKB through a signaling complex involving SRC kinase and tumor necrosis factor receptor-associated factor (TRAF) 6, which indicated this protein may have a role in the regulation of cell apoptosis. Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. The deficient mice exhibited defects in early differentiation of T and B lymphocytes, and failed to form lobulo-alveolar mammary structures during pregnancy. Two alternatively spliced transcript variants have been found. [provided by RefSeq, Jul 2008]
- From UniProt:
Cytokine that binds to TNFRSF11B/OPG and to TNFRSF11A/RANK. Osteoclast differentiation and activation factor. Augments the ability of dendritic cells to stimulate naive T-cell proliferation. May be an important regulator of interactions between T-cells and dendritic cells and may play a role in the regulation of the T-cell-dependent immune response. May also play an important role in enhanced bone-resorption in humoral hypercalcemia of malignancy.
How are changes in the TNFSF11 gene related to health conditions?
- Genetics Home Reference provides information about osteopetrosis, which is associated with changes in the TNFSF11 gene.
- UniProt provides the following information about the TNFSF11 gene's known or predicted involvement in human disease.
Osteopetrosis, autosomal recessive 2 (OPTB2): A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB2 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development. The disease is caused by mutations affecting the gene represented in this entry.
- NCBI Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the TNFSF11 gene.
- Osteopetrosis autosomal recessive 2
- OMIM.org, a catalog designed for genetics professionals and researchers, provides the following information about the TNFSF11 gene and its association with health conditions.
Where is the TNFSF11 gene located?
Cytogenetic Location: 13q14
Molecular Location on chromosome 13: base pairs 42,562,735 to 42,608,012
The TNFSF11 gene is located on the long (q) arm of chromosome 13 at position 14.
More precisely, the TNFSF11 gene is located from base pair 42,562,735 to base pair 42,608,012 on chromosome 13.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about TNFSF11?
You and your healthcare professional may find the following resources about TNFSF11 helpful.
- Genetic Testing Registry - Repository of genetic test information
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog
- Research Resources - Tools for researchers
What other names do people use for the TNFSF11 gene or gene products?
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 TNFSF11?
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
See How can I find a genetics professional in my area? in the Handbook.