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The official name of this gene is “transcription factor 7-like 2 (T-cell specific, HMG-box).”
TCF7L2 is the gene's official symbol. The TCF7L2 gene is also known by other names, listed below.
This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
Participates in the Wnt signaling pathway and modulates MYC expression by binding to its promoter in a sequence-specific manner. Acts as repressor in the absence of CTNNB1, and as activator in its presence. Activates transcription from promoters with several copies of the Tcf motif 5'-CCTTTGATC-3' in the presence of CTNNB1. TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by TCF7L2/TCF4 and CTNNB1. Expression of dominant-negative mutants results in cell-cycle arrest in G1. Necessary for the maintenance of the epithelial stem-cell compartment of the small intestine.
Constitutive activation and subsequent transactivation of target genes may lead to the maintenance of stem-cell characteristics (cycling and longevity) in cells that should normally undergo terminal differentiation and constitute the primary transforming event in colorectal cancer (CRC).
Diabetes mellitus, non-insulin-dependent (NIDDM): A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. Disease susceptibility is associated with variations affecting the gene represented in this entry.
|||125853 (http://omim.org/entry/125853)||DIABETES MELLITUS, NONINSULIN-DEPENDENT|
|602228 (http://omim.org/entry/602228)||TRANSCRIPTION FACTOR 7-LIKE 2|
Cytogenetic Location: 10q25.3
Molecular Location on chromosome 10: base pairs 112,950,218 to 113,167,677
The TCF7L2 gene is located on the long (q) arm of chromosome 10 at position 25.3.
More precisely, the TCF7L2 gene is located from base pair 112,950,218 to base pair 113,167,677 on chromosome 10.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about TCF7L2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
cancer ; cell ; colorectal ; constitutive ; diabetes ; diabetes mellitus ; differentiation ; epithelial ; gene ; glucose ; homeostasis ; hypertension ; hypertriglyceridemia ; insulin ; insulin resistance ; intestine ; isoforms ; motif ; promoter ; protein ; repressor ; sensitivity ; susceptibility ; syndrome ; transcript ; transcription ; transcription factor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.