TCF7L2 Chromosome 10
Transcription factor 7 like 2
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What This Gene Does
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]
Gene Info
Gene Group
"TCF/LEF transcription factor family|Wnt enhanceosome complex"
Locus Type
gene with protein product
Location
10q25.2-q25.3
Ensembl
ENSG00000148737
Associated Conditions (6)
Neurodevelopmental delay
Neurodevelopmental abnormality
Autism
Inborn genetic diseases
Diabetes mellitus type 2
susceptibility to
Key Variants
RS2136929776
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental delay
Health Risk
RS2137178800
Likely pathogenic
Neurodevelopmental abnormality, Neurodevelopmental abnormality
Health Risk
RS2136838531
Pathogenic
Health Risk
RS2137155220
Pathogenic
Autism, Autism
Health Risk
RS2137178349
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2137179429
Pathogenic
Health Risk
RS2544045443
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS11196205
risk factor
Diabetes mellitus type 2, susceptibility to, Diabetes mellitus type 2
Health Risk
RS12255372
risk factor
Diabetes mellitus type 2, susceptibility to, Diabetes mellitus type 2
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2136929776 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2137178800 | Health Risk | Likely pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS2136838531 | Health Risk | Pathogenic | — |
| RS2137155220 | Health Risk | Pathogenic | Autism, Autism |
| RS2137178349 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2137179429 | Health Risk | Pathogenic | — |
| RS2544045443 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS11196205 | Health Risk | risk factor | Diabetes mellitus type 2, susceptibility to, Diabetes mellitus type 2 |
| RS12255372 | Health Risk | risk factor | Diabetes mellitus type 2, susceptibility to, Diabetes mellitus type 2 |