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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]
TCF7L2 (Transcription Factor 7 Like 2) is a Protein Coding gene. Diseases associated with TCF7L2 include Diabetes Mellitus, Noninsulin-Dependent and Colorectal Cancer. Among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Endometrial cancer. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is TCF7L1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 20128911 |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 19443654 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001103 | RNA polymerase II repressing transcription factor binding | IPI | 19443654 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | IDA | 19443654 |
GO:0005634 | nucleus | IEA,IDA | 9065401 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005667 | transcription factor complex | IBA | 21873635 |
GO:0016605 | PML body | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Endometrial cancer |
Signal transduction PTEN pathway
.44
.36
|
.32
|
2 | Regulation of activated PAK-2p34 by proteasome mediated degradation |
.41
|
|
3 | Gastric cancer |
.62
.62
|
|
4 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) | ||
5 | Aldosterone synthesis and secretion |
.41
|
.41
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 12799378 |
GO:0001568 | blood vessel development | IMP | 15578569 |
GO:0006355 | regulation of transcription, DNA-templated | IBA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IDA | 9727977 |
GO:0007050 | cell cycle arrest | IMP | 12408868 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Cyclosporin A | Approved, Investigational, Vet_approved | Pharma | Antagonist, Inhibitor, Inhibition | Immunosuppressive agent, Calcineurin inhibitor | 0 | |
Hydrochlorothiazide | Approved, Vet_approved | Pharma | Inhibitor, Inhibition | 453 | ||
Repaglinide | Approved, Investigational | Pharma | Kir6 (KATP) channel blocker | 58 | ||
Sirolimus | Approved, Investigational | Pharma | Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors | 1377 | ||
Tacrolimus | Approved, Investigational | Pharma | 1281 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · | 12b | · | 12c | ^ | 13a | · | 13b | · | 13c | · | 13d | ^ | 14 | ^ | 15 | ^ | 16a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - |
ExUns: | 16b | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | · | 20c | · | 20d | · | 20e |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||
SP2: | - | - | |||||||||||||||
SP3: | - | - | |||||||||||||||
SP4: | |||||||||||||||||
SP5: | |||||||||||||||||
SP6: | - | - | - | ||||||||||||||
SP7: | |||||||||||||||||
SP8: | |||||||||||||||||
SP9: | |||||||||||||||||
SP10: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TCF7L2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TCF7L2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tcf7l2 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TCF7L2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TCF7L2 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tcf7l2 30 |
|
||
Cow (Bos Taurus) |
Mammalia | TCFL2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TCF7L2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tcf7l2 30 |
|
||
Str.5723 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.11987 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tcf7l2 30 31 |
|
OneToOne | |
tcf4 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | pan 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | pop-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.11069 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
157187 | Not Provided: Normal pregnancy | 113,086,889(+) | TATTCTGTAAGAGGAT | INTRON_VARIANT | |
708494 | Likely Benign: not provided | 112,950,840(+) | G/A | SYNONYMOUS_VARIANT | |
717937 | Benign: not provided | 113,165,849(+) | T/G | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
719283 | Benign: not provided | 113,165,648(+) | C/G | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
720055 | Likely Benign: not provided | 113,143,939(+) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv286e212 | CNV | loss | 25503493 |
dgv41e215 | CNV | deletion | 23714750 |
dgv518n106 | CNV | deletion | 24896259 |
esv2074123 | CNV | deletion | 18987734 |
esv2762881 | CNV | loss | 21179565 |
esv3546869 | CNV | deletion | 23714750 |
esv3579130 | CNV | loss | 25503493 |
esv3624589 | CNV | loss | 21293372 |
nsv1070891 | CNV | deletion | 25765185 |
nsv1134056 | CNV | deletion | 24896259 |
nsv24033 | CNV | deletion | 16902084 |
nsv437693 | CNV | loss | 16327808 |
nsv476274 | CNV | novel sequence insertion | 20440878 |
nsv476737 | CNV | novel sequence insertion | 20440878 |
nsv527837 | CNV | loss | 19592680 |
nsv7211 | OTHER | inversion | 18451855 |
nsv7553 | CNV | deletion | 18451855 |
nsv982900 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
diabetes mellitus, noninsulin-dependent |
|
|
colorectal cancer |
|
|
diabetes mellitus |
|
|
gestational diabetes |
|
|
neonatal diabetes mellitus |
|
|