Human Gene TCF7L2 (uc001lae.4)
Description: Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 1, mRNA.
RefSeq Summary (NM_001146274): 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].
Transcript (Including UTRs)
Position: hg19 chr10:114,710,009-114,927,436 Size: 217,428 Total Exon Count: 14 Strand: +
Coding Region
Position: hg19 chr10:114,710,516-114,925,731 Size: 215,216 Coding Exon Count: 14
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Primer design for this transcript
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): TCF7L2
CDC HuGE Published Literature: TCF7L2
Positive Disease Associations: Blood Pressure Determination
, body mass cholesterol, HDL diabetes, type 2 glucose insulin metabolic syndrome triglycerides
, body mass insulin
, clinicopathological characteristics of hepatocellular carcinoma
, coronary artery disease
, Coronary Disease
, Diabetes mellitus type II|Diabetes Mellitus, Type 2
, Diabetes mellitus type II|Diabetes Mellitus, Type 2|Insulin Resistance
, Diabetes Mellitus, Type 2
, diabetes, gestational
, diabetes, type 2
, diabetes, type 2 glucose insulin
, fasting glucose-related traits
, Glucose Tolerance Test
, Hemoglobin A, Glycosylated
, Posttransplantation diabetes mellitus (PTDM)
, two-hour glucose challenge
, type 2 diabetes
, type 2 diabetes and other traits
Related Studies: Blood Pressure Determination , , .
[PubMed 0 ]
body mass cholesterol, HDL diabetes, type 2 glucose insulin metabolic syndrome triglycerides Melzer, D. et al. 2006, Effects of the diabetes linked TCF7L2 polymorphism in a representative older population, BMC Med 2006 4(1) 34.
[PubMed 17181866 ]
The TCF7L2 rs7903146 polymorphism is associated with lower insulin levels, smaller waist circumference, and lower risk lipid profiles in the general elderly population.
body mass insulin Munoz, J. et al. 2006, Polymorphism in the Transcription Factor 7-Like 2 (TCF7L2) Gene Is Associated With Reduced Insulin Secretion in Nondiabetic Women, Diabetes 2006 55(12) 3630-4.
[PubMed 17130514 ]
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MalaCards Disease Associations
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
Pfam Domains: PF00505 - HMG (high mobility group) box
PF08347 - N-terminal CTNNB1 binding
PF09011 - HMG-box domain
SCOP Domains: 47095 - HMG-box
ModBase Predicted Comparative 3D Structure on Q9NQB0-7
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Mouse Rat Zebrafish D. melanogaster C. elegans S. cerevisiae
No ortholog No ortholog No ortholog No ortholog No ortholog No ortholog
Gene Details
Gene Sorter
Descriptions from all associated GenBank mRNAs
AK225809 - Homo sapiens mRNA for Splice isoform 8 of Q9NQB0 variant, clone: FCC130A07.FJ010174 - Homo sapiens TCF7L2 isoform pFC8A_TCF7L2_ex1-11-13-14 mRNA, complete cds, alternatively spliced.Y11306 - Homo sapiens mRNA for hTCF-4.AK315243 - Homo sapiens cDNA, FLJ96245.FJ010168 - Homo sapiens TCF7L2 isoform pFC8A_TCF7L2_H7_ex1-11-13-13b mRNA, complete cds, alternatively spliced.FJ010169 - Homo sapiens TCF7L2 isoform pFC8A_TCF7L2_B1_ex1-11-12-13-13b mRNA, complete cds, alternatively spliced.FJ010172 - Homo sapiens TCF7L2 isoform pFC8A_TCF7L2_B8_ex1-11-14 mRNA, complete cds, alternatively spliced.FJ010170 - Homo sapiens TCF7L2 isoform pFC8A_TCF7L2_ex1-11-12-14 mRNA, complete cds, alternatively spliced.FJ010166 - Homo sapiens TCF7L2 isoform pFC8A_TCF7L2_A3,ex1-12,13,13a mRNA, complete cds, alternatively spliced.FJ010167 - Homo sapiens TCF7L2 isoform pFC8A_TCF7L2_D4,ex1-11-13a-14 mRNA, complete cds, alternatively spliced.BC032656 - Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box), mRNA (cDNA clone MGC:44932 IMAGE:5533185), complete cds.FJ010171 - Homo sapiens TCF7L2 isoform pFC8A_TCF7L2_B4_ex1-no4-11-14 mRNA, complete cds, alternatively spliced.AK299295 - Homo sapiens cDNA FLJ60833 complete cds, highly similar to Transcription factor 7-like 2.KJ892257 - Synthetic construct Homo sapiens clone ccsbBroadEn_01651 TCF7L2 gene, encodes complete protein.AB451266 - Homo sapiens TCF7L2 mRNA for transcription factor 7-like 2, complete cds, clone: FLJ08086AAAN.AB440195 - Homo sapiens TCF7L2 mRNA for transcription factor 7-like 2 isoform, complete cds.CR536574 - Homo sapiens full open reading frame cDNA clone RZPDo834H0722D for gene TCF7L2, transcription factor 7-like 2 (T-cell specific, HMG-box); complete cds, incl. stopcodon.HM352838 - Homo sapiens T-cell factor-4 variant F (TCF7L2) mRNA, complete cds, alternatively spliced.HM352839 - Homo sapiens T-cell factor-4 variant K (TCF7L2) mRNA, complete cds, alternatively spliced.HM352840 - Homo sapiens T-cell factor-4 variant D (TCF7L2) mRNA, complete cds, alternatively spliced.HM352841 - Homo sapiens T-cell factor-4 variant H (TCF7L2) mRNA, complete cds, alternatively spliced.HM352842 - Homo sapiens T-cell factor-4 variant B (TCF7L2) mRNA, complete cds, alternatively spliced.HM352843 - Homo sapiens T-cell factor-4 variant C (TCF7L2) mRNA, complete cds, alternatively spliced.HM352844 - Homo sapiens T-cell factor-4 variant I (TCF7L2) mRNA, complete cds, alternatively spliced.HM352845 - Homo sapiens T-cell factor-4 variant X2 (TCF7L2) mRNA, complete cds, alternatively spliced.HM352846 - Homo sapiens T-cell factor-4 variant G (TCF7L2) mRNA, complete cds, alternatively spliced.HM352847 - Homo sapiens T-cell factor-4 variant J (TCF7L2) mRNA, complete cds, alternatively spliced.HM352848 - Homo sapiens T-cell factor-4 variant E (TCF7L2) mRNA, complete cds, alternatively spliced.HM352849 - Homo sapiens T-cell factor-4 variant A (TCF7L2) mRNA, complete cds, alternatively spliced.HM352850 - Homo sapiens T-cell factor-4 variant M (TCF7L2) mRNA, complete cds, alternatively spliced.HM352851 - Homo sapiens T-cell factor-4 variant L (TCF7L2) mRNA, complete cds, alternatively spliced.MF772717 - Homo sapiens transcription factor 7 like 2 isoform E1 (TCF7L2) mRNA, complete cds.MF772718 - Homo sapiens transcription factor 7 like 2 isoform E4 (TCF7L2) mRNA, complete cds.BX648364 - Homo sapiens mRNA; cDNA DKFZp686K06191 (from clone DKFZp686K06191).FJ010164 - Homo sapiens TCF7L2 isoform pFC8A_TCF7L2_D5_ex3-11,12,13a,14 mRNA, complete cds, alternatively spliced.FJ010165 - Homo sapiens TCF7L2 isoform pFC8A_TCF7L2_D5_ex3,4a-11,12,13a,14 mRNA, complete cds, alternatively spliced.FJ010173 - Homo sapiens TCF7L2 isoform pFC8A_TCF7L2_H2_ex3-11-12-13-14 mRNA, complete cds, alternatively spliced.AK301483 - Homo sapiens cDNA FLJ54563 complete cds, highly similar to Transcription factor 7-like 2.JD391258 - Sequence 372282 from Patent EP1572962.JD402306 - Sequence 383330 from Patent EP1572962.JD390508 - Sequence 371532 from Patent EP1572962.JD415834 - Sequence 396858 from Patent EP1572962.JD298789 - Sequence 279813 from Patent EP1572962.JD399025 - Sequence 380049 from Patent EP1572962.JD163189 - Sequence 144213 from Patent EP1572962.LF211376 - JP 2014500723-A/18879: Polycomb-Associated Non-Coding RNAs.LF345953 - JP 2014500723-A/153456: Polycomb-Associated Non-Coding RNAs.LF383497 - JP 2014500723-A/191000: Polycomb-Associated Non-Coding RNAs.MA581530 - JP 2018138019-A/153456: Polycomb-Associated Non-Coding RNAs.MA619074 - JP 2018138019-A/191000: Polycomb-Associated Non-Coding RNAs.MA446953 - JP 2018138019-A/18879: Polycomb-Associated Non-Coding RNAs.AK316111 - Homo sapiens cDNA, FLJ79010 complete cds, highly similar to Transcription factor 7-like 2.AK303684 - Homo sapiens cDNA FLJ59810 complete cds, highly similar to Transcription factor 7-like 2.AK296305 - Homo sapiens cDNA FLJ59705 complete cds, highly similar to Transcription factor 7-like 2.AK074705 - Homo sapiens cDNA FLJ90224 fis, clone NT2RM1000789, highly similar to Mus musculus transcription factor 7-like 2, T-cell specific, HMG-box (Tcf7l2), mRNA.AB034691 - Homo sapiens TCF-4B mRNA for TCF-4 splice form B, partial cds.JD206620 - Sequence 187644 from Patent EP1572962.
Biochemical and Signaling Pathways
Other Names for This Gene
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
NM_001146274.1
exon count:
14 CDS single in 3' UTR:
no
RNA size:
4022
ORF size:
1809 CDS single in intron:
no
Alignment % ID:
100.00
txCdsPredict score:
3437.00 frame shift in genome:
no
% Coverage:
99.98
has start codon:
yes
stop codon in genome:
no
# of Alignments:
1
has end codon:
yes
retained intron:
no
# AT/AC introns
0
selenocysteine:
no
end bleed into intron:
0 # strange splices:
0
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.