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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.[pro... See more...
Aliases for TCF7L2 Gene
Aliases for TCF7L2 Gene
External Ids for TCF7L2 Gene
- HGNC: 11641
- Entrez Gene: 6934
- Ensembl: ENSG00000148737
- OMIM: 602228
- UniProtKB: Q9NQB0
Previous HGNC Symbols for TCF7L2 Gene
- TCF4
Previous GeneCards Identifiers for TCF7L2 Gene
- GC10P113605
- GC10P113943
- GC10P114841
- GC10P114374
- GC10P114700
- GC10P108337
- GC10P114710
Summaries for TCF7L2 Gene
-
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]
GeneCards Summary for TCF7L2 Gene
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.
UniProtKB/Swiss-Prot Summary for TCF7L2 Gene
-
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.
Additional gene information for TCF7L2 Gene
- HGNC(11641)
- Entrez Gene(6934)
- Ensembl(ENSG00000148737)
- OMIM(602228)
- UniProtKB(Q9NQB0)
- Open Targets Platform(ENSG00000148737)
- Monarch Initiative
- Search for TCF7L2 at DataMed
- Search for TCF7L2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TCF7L2 Gene
Genomics for TCF7L2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TCF7L2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TCF7L2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TCF7L2
- Top Transcription factor binding sites by QIAGEN in the TCF7L2 gene promoter:
-
- AP-2alpha
- HNF-4alpha1
- N-Myc
- PPAR-gamma1
- PPAR-gamma2
- STAT3
Genomic Locations for TCF7L2 Gene
Genomic Locations for TCF7L2 Gene
- chr10:112,950,247-113,167,678
- (GRCh38/hg38)
- Size:
- 217,432 bases
- Orientation:
- Plus strand
- chr10:114,710,009-114,927,437
- (GRCh37/hg19)
- Size:
- 217,429 bases
- Orientation:
- Plus strand
Genomic View for TCF7L2 Gene
Genes around TCF7L2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q25.2-q25.3 by HGNC
- 10q25.2-q25.3 by Entrez Gene
- 10q25.2 by Ensembl
TCF7L2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TCF7L2 Gene
Proteins for TCF7L2 Gene
-
Protein details for TCF7L2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NQB0-TF7L2_HUMAN
- Recommended name:
- Transcription factor 7-like 2
- Protein Accession:
- Q9NQB0
- B4DRJ8
- B9X074
- C6ZRJ8
- C6ZRK0
- E2GH14
- E2GH19
- E2GH20
- E2GH24
- E2GH25
- E9PFH9
- F8W742
- F8W7T5
- O00185
- Q9NQB1
- Q9NQB2
- Q9NQB3
- Q9NQB4
- Q9NQB5
- Q9NQB6
- Q9NQB7
- Q9ULC2
Protein attributes for TCF7L2 Gene
- Size:
- 619 amino acids
- Molecular mass:
- 67919 Da
- Quaternary structure:
-
- Interacts with TGFB1I1 (By similarity). Interacts with CTNNB1 (via the armadillo repeat); forms stable transcription complex (PubMed:9065401, PubMed:9916915, PubMed:10080941, PubMed:19816403, PubMed:28829046, PubMed:29739711, PubMed:17052462). Interacts with EP300. Interacts with NLK. Interacts with CCDC85B (probably through the HMG box); prevents interaction with CTNNB1. Interacts with TNIK. Interacts with MAD2L2; prevents TCF7L2/TCF4 binding to promZIPK/DAPK3oters, negatively modulating its transcriptional activity. Interacts with ZIPK/DAPK3. Interacts with XIAP/BIRC4 and TLE3. Interacts with DDIT3/CHOP. The CTNNB1 and TCF7L2/TCF4 complex interacts with PML (isoform PML-4). Identified in a complex with CTNNB1 and FERMT2. Interacts with SPIN1 (PubMed:22258766, PubMed:24589551, PubMed:29061846). Interacts with C11orf84/SPINDOC in a SPIN1-dependent manner (PubMed:29061846).
- Miscellaneous:
-
- [Isoform 12]: Low expression in pancreas and colon.
- [Isoform 13]: Common splicing form, lowest expression in skeletal muscle.
- [Isoform 14]: High transcriptional activity. Major isoform in liver.
Protein Expression for TCF7L2 Gene
Post-translational modifications for TCF7L2 Gene
- In vitro, phosphorylated by TNIK.
- Phosphorylated at Thr-201 and/or Thr-212 by NLK. Phosphorylation by NLK at these sites inhibits DNA-binding by TCF7L2/TCF4, thereby preventing transcriptional activation of target genes of the canonical Wnt/beta-catenin signaling pathway.
- Polysumoylated. Sumoylation is enhanced by PIAS family members and desumoylation is enhanced by SENP2. Sumoylation/desumoylation regulates TCF7L2/TCF4 transcription activity in the Wnt/beta-catenin signaling pathway without altering interaction with CTNNB1 nor binding to DNA.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for TCF7L2 Gene
- ENSEMBL proteins:
-
- ENSP00000486891
- ENSP00000358404
- ENSP00000347949
- ENSP00000344823
- ENSP00000358402
- ENSP00000440547
- ENSP00000487507
- ENSP00000345640
- ENSP00000298692
- ENSP00000358396
- ENSP00000490478
- ENSP00000277945
- ENSP00000358393
- ENSP00000490260
- ENSP00000435694
- ENSP00000490004
- ENSP00000443626
- ENSP00000446172
- ENSP00000446238
- ENSP00000348274
- ENSP00000443883
- ENSP00000444972
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ TCF7L2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for TCF7L2
- Novus Biologicals Antibodies for TCF7L2
- Invitrogen Antibodies for TCF7L2 (AFLGC-Tcf7l2)
-
Santa Cruz Biotechnology (SCBT) Antibodies for TCF7L2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for TCF7L2
- Origene Custom Protein Services for TCF7L2
-
Abcam proteins for TCF7L2
Assay Products
- antibodies-online: Show 7 available TCF7L2 Elisa Kits ranked by validation data
- Compare Top TCF7L2 Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for TCF7L2
No data available for DME Specific Peptides for TCF7L2 Gene
Domains & Families for TCF7L2 Gene
Gene Families for TCF7L2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for TCF7L2 Gene
- InterPro:
- Blocks:
-
- CTNNB1 binding, N-teminal
- ProtoNet:
Suggested Antigen Peptide Sequences for TCF7L2 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ60833, highly similar to Transcription factor 7-like 2 (B4DRJ8_HUMAN)
- Transcription factor 7-like 2 (B5BU30_HUMAN)
- Transcription factor 7-like 2 isoform (B9X074_HUMAN)
- TCF7L2 isoform pFC8A_TCF7L2_D4,ex1-11-13a-14 (C6ZRJ8_HUMAN)
- Transcription factor 7-like 2 (T-cell specific, HMG-box), isoform CRA_i (C6ZRK5_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9NQB0UniProtKB/Swiss-Prot:
TF7L2_HUMAN :- The promoter-specific activation domain interacts with the transcriptional coactivator EP300.
- Belongs to the TCF/LEF family.
- Domain:
-
- The promoter-specific activation domain interacts with the transcriptional coactivator EP300.
- Family:
-
- Belongs to the TCF/LEF family.
Function for TCF7L2 Gene
Molecular function for TCF7L2 Gene
- UniProtKB/Swiss-Prot Function:
- 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.
Phenotypes From GWAS Catalog for TCF7L2 Gene
| 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 |
Phenotypes for TCF7L2 Gene
- MGI mutant phenotypes for TCF7L2:
-
inferred from 13 alleles
- nervous system phenotype
- immune system phenotype
- respiratory system phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- renal/urinary system phenotype
- neoplasm
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for TCF7L2:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Increased gamma-H2AX phosphorylation
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Increased S DNA content
- Increased viability with MLN4924 (a NAE inhibitor)
- Increased Nanog expression
- Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435)
- Decreased CDKN1A mRNA expression
- Upregulation of Wnt pathway after Wnt3A stimulation
Animal Models for TCF7L2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TCF7L2 - Select products 50% OFF >
- * TCF7L2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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-
OriGene CRISPR knockouts for TCF7L2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TCF7L2
-
Santa Cruz Biotechnology (SCBT) CRISPR for TCF7L2
miRNA for TCF7L2 Gene
- miRTarBase miRNAs that target TCF7L2
-
- mmu-miR-210-3p (MIRT000016)
- mmu-miR-362-5p (MIRT009049)
- mmu-miR-124-3p (MIRT015859)
- hsa-miR-324-5p (MIRT043052)
- hsa-miR-148b-3p (MIRT043583)
- hsa-miR-4698 (MIRT261338)
- hsa-miR-8063 (MIRT261341)
- hsa-miR-513a-3p (MIRT261342)
- hsa-miR-513c-3p (MIRT261347)
- hsa-miR-3606-3p (MIRT261349)
- hsa-miR-3613-3p (MIRT261354)
- hsa-miR-4435 (MIRT505411)
- hsa-miR-1298-5p (MIRT505412)
- hsa-miR-539-3p (MIRT505413)
- hsa-miR-485-3p (MIRT505414)
- hsa-miR-539-5p (MIRT505415)
- hsa-miR-3190-5p (MIRT505416)
- hsa-miR-4793-3p (MIRT505417)
- hsa-miR-3919 (MIRT505418)
- hsa-miR-892b (MIRT505419)
- hsa-miR-6807-3p (MIRT505420)
- hsa-miR-217 (MIRT505421)
- hsa-miR-509-5p (MIRT505422)
- hsa-miR-509-3-5p (MIRT505423)
- hsa-miR-4418 (MIRT505424)
- hsa-miR-1-5p (MIRT505425)
- hsa-miR-193a-3p (MIRT505426)
- hsa-miR-193b-3p (MIRT505427)
- hsa-miR-429 (MIRT505428)
- hsa-miR-200c-3p (MIRT505429)
- hsa-miR-200b-3p (MIRT505430)
- hsa-miR-651-5p (MIRT553690)
- hsa-miR-3117-3p (MIRT553691)
- hsa-miR-891b (MIRT553692)
- hsa-miR-616-5p (MIRT553693)
- hsa-miR-373-5p (MIRT553694)
- hsa-miR-371b-5p (MIRT553695)
- hsa-miR-5193 (MIRT553696)
- hsa-miR-8083 (MIRT553697)
- hsa-miR-4759 (MIRT553698)
- hsa-miR-3169 (MIRT553699)
- hsa-miR-519c-3p (MIRT553700)
- hsa-miR-519b-3p (MIRT553701)
- hsa-miR-519a-3p (MIRT553702)
- hsa-miR-17-5p (MIRT553703)
- hsa-miR-106b-5p (MIRT553704)
- hsa-miR-20a-5p (MIRT553705)
- hsa-miR-20b-5p (MIRT553706)
- hsa-miR-519d-3p (MIRT553707)
- hsa-miR-526b-3p (MIRT553708)
- hsa-miR-93-5p (MIRT553709)
- hsa-miR-106a-5p (MIRT553710)
- hsa-miR-301b-3p (MIRT553711)
- hsa-miR-301a-3p (MIRT553712)
- hsa-miR-3666 (MIRT553713)
- hsa-miR-454-3p (MIRT553714)
- hsa-miR-4295 (MIRT553715)
- hsa-miR-130b-3p (MIRT553716)
- hsa-miR-130a-3p (MIRT553717)
- mmu-miR-466f-3p (MIRT580551)
- mmu-miR-344e-3p (MIRT580552)
- mmu-miR-344d-3p (MIRT580553)
- mmu-miR-410-3p (MIRT580554)
- mmu-miR-703 (MIRT580555)
- hsa-miR-384 (MIRT612388)
- hsa-miR-3685 (MIRT612389)
- hsa-miR-155-3p (MIRT612390)
- hsa-miR-32-3p (MIRT612391)
- hsa-miR-1305 (MIRT621858)
- hsa-miR-421 (MIRT621859)
- hsa-miR-7159-5p (MIRT621860)
- hsa-miR-8485 (MIRT621861)
- hsa-miR-505-3p (MIRT621862)
- hsa-miR-5006-3p (MIRT641834)
- hsa-miR-4755-5p (MIRT641835)
- hsa-miR-623 (MIRT641836)
- hsa-miR-6832-3p (MIRT641837)
- hsa-miR-3938 (MIRT641838)
- hsa-miR-4717-5p (MIRT641839)
- hsa-miR-4753-5p (MIRT641840)
- hsa-miR-6768-3p (MIRT641841)
- hsa-miR-211-5p (MIRT641842)
- hsa-miR-204-5p (MIRT641843)
- mmu-miR-17-5p (MIRT732961)
- hsa-miR-26a-1-3p (MIRT733096)
- mmu-miR-155-5p (MIRT733795)
Targeted motifs for TCF7L2 Gene
HOMER Transcription Factor Regulatory Elements motif TCF7L2
- Consensus sequence: ACATCAAAGGGA Submotif: canonical Cell Type: Hct116 GEO ID: SRA012054
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TCF7L2
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Clone Products
- Applied Biological Materials (abm): Clones for TCF7L2 - Select products 50% OFF >
- * TCF7L2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG207325
- MG224173
- MG224177
- MG224180
- MG224182
- MG224188
- MG224589
- MG224593
- MR207325
- MR207325L3
- MR207325L4
- MR224173
- MR224173L1
- MR224173L2
- MR224173L3
- MR224173L4
- MR224177
- MR224177L3
- MR224177L4
- MR224180
- MR224180L3
- MR224180L4
- MR224182
- MR224182L3
- MR224182L4
- MR224188
- MR224188L3
- MR224188L4
- MR224589
- MR224589L3
- MR224589L4
- MR224593
- MR224593L3
- MR224593L4
- RC216058
- RC216058L1
- RC216058L2
- RC216058L3
- RC216058L4
- RC228355
- RC228355L1
- RC228355L2
- RC228355L3
- RC228355L4
- RC228404
- RC228404L3
- RC228404L4
- RC228470
- RC228470L3
- RC228470L4
- RC228489
- RC228489L1
- RC228489L2
- RC228489L3
- RC228489L4
- RC228906
- RC228906L3
- RC228906L4
- RC231215
- RC231215L3
- RC231215L4
- RC231248
- RC231248L3
- RC231248L4
- RC231252
- RC231252L3
- RC231252L4
- RC231262
- RC231262L3
- RC231262L4
- RC234152
- RC234158
- RC234477
- RG216058
- RG228355
- RG228404
- RG228470
- RG228489
- RG228906
- RG231215
- RG231248
- RG231252
- RG231262
- RG234152
- RG234158
- RG234477
- RR216980
- MR207325L3V
- MR207325L4V
- MR224173L1V
- MR224173L2V
- MR224173L3V
- MR224173L4V
- MR224177L3V
- MR224177L4V
- MR224180L3V
- MR224180L4V
- MR224182L3V
- MR224182L4V
- MR224188L3V
- MR224188L4V
- MR224589L3V
- MR224589L4V
- MR224593L3V
- MR224593L4V
- RC216058L1V
- RC216058L2V
- RC216058L3V
- RC216058L4V
- RC228355L1V
- RC228355L2V
- RC228355L3V
- RC228355L4V
- RC228404L3V
- RC228404L4V
- RC228470L3V
- RC228470L4V
- RC228489L1V
- RC228489L2V
- RC228489L3V
- RC228489L4V
- RC228906L3V
- RC228906L4V
- RC231215L3V
- RC231215L4V
- RC231248L3V
- RC231248L4V
- RC231252L3V
- RC231252L4V
- RC231262L3V
- RC231262L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Addgene plasmids for TCF7L2
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Cell Line Products
-
Horizon Cell Lines for TCF7L2
No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for TCF7L2 Gene
Localization for TCF7L2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TCF7L2 Gene
- Nucleus, PML body. Note=Diffuse pattern. Colocalizes with SUMO1 and PIAS4 in a subset of PML (promyelocytic leukemia) nuclear bodies.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nuclear bodies (3)
- Cytosol (2)
- Nucleoplasm (2)
| 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 | -- |
Pathways & Interactions for TCF7L2 Gene
| 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
|
Pathways by source for TCF7L2 Gene
6 BioSystems pathways for TCF7L2 Gene
18 Reactome pathways for TCF7L2 Gene
1 PharmGKB pathway for TCF7L2 Gene
18 KEGG pathways for TCF7L2 Gene
8 GeneGo (Thomson Reuters) pathways for TCF7L2 Gene
- Cell adhesion Tight junctions
- Cytoskeleton remodeling Integrin outside-in signaling
- Development A2B receptor- action via G-protein alpha s
- Development A3 receptor signaling
- Development Endothelin-1/EDNRA signaling
1 R&D Systems pathway for TCF7L2 Gene
7 Qiagen pathways for TCF7L2 Gene
- Epithelial Adherens Junctions
- Factors Promoting Cardiogenesis in Vertebrates
- Human Embryonic Stem Cell Pluripotency
- ILK Signaling
- JNK Pathway
1 Cell Signaling Technology pathway for TCF7L2 Gene
Interacting Proteins for TCF7L2 Gene
Selected Interacting proteins:
Q9NQB0-TF7L2_HUMAN
ENSP00000358404
for TCF7L2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for TCF7L2
SIGNOR curated interactions for TCF7L2 Gene
| 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 |
Drugs & Compounds for TCF7L2 Gene
| 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 |
|---|
Transcripts for TCF7L2 Gene
mRNA/cDNA for TCF7L2 Gene
- 17 REFSEQ mRNAs :
- 49 NCBI additional mRNA sequence :
- 30 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000277945 620 nts (view in UCSC)
- ENST00000346198 667 nts (view in UCSC)
- ENST00000349937 725 nts (view in UCSC)
- ENST00000352065 1553 nts (view in UCSC)
- ENST00000355717 1979 nts (view in UCSC)
CRISPR Products
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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| 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: |
Relevant External Links for TCF7L2 Gene
- GeneLoc Exon Structure for
- TCF7L2
Expression for TCF7L2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Pre-myelinating Oligodendrocyte Cells Forebrain White Matter
-
Spinal Cord (Nervous System)
- Pre-myelinating Oligodendrocyte Cells Spinal Cord White Matter
This gene is overexpressed in Liver (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TCF7L2 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TCF7L2
SOURCE GeneReport for Unigene cluster for TCF7L2 Gene:
Hs.593995mRNA Expression by UniProt/SwissProt for TCF7L2 Gene:
Q9NQB0-TF7L2_HUMAN
Tissue specificity:
Detected in epithelium from small intestine, with the highest expression at the top of the crypts and a gradient of expression from crypt to villus. Detected in colon epithelium and colon cancer, and in epithelium from mammary gland and carcinomas derived therefrom.
Evidence on tissue expression from TISSUES for TCF7L2 Gene
- Nervous system(4.8)
- Intestine(4.6)
- Liver(4.6)
- Pancreas(3.4)
- Skin(2.9)
- Blood(2.8)
- Muscle(2.6)
- Kidney(2.6)
- Heart(2.5)
- Stomach(2.3)
- Thyroid gland(2.3)
- Lung(2.2)
- Lymph node(2.2)
- Spleen(2.1)
- Bone marrow(2.1)
Primer Products
-
OriGene qPCR primer pairs for TCF7L2
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TCF7L2 Gene
Orthologs for TCF7L2 Gene
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 |
- Species where no ortholog for TCF7L2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for TCF7L2 Gene
- ENSEMBL:
- Gene Tree for TCF7L2 (if available)
- TreeFam:
- Gene Tree for TCF7L2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TCF7L2: view image
Paralogs for TCF7L2 Gene
(7) SIMAP similar genes for TCF7L2 Gene using alignment to 17 proteins:
- TF7L2_HUMAN
- B5BU30_HUMAN
- C6ZRK5_HUMAN
- E2GH13_HUMAN
- E2GH15_HUMAN
- E2GH16_HUMAN
- E2GH18_HUMAN
- E2GH23_HUMAN
- E2GH26_HUMAN
- H0YEE5_HUMAN
- Q5JRY3_HUMAN
- Q5JRY4_HUMAN
- Q5JRY5_HUMAN
- Q5VVR5_HUMAN
- Q5VVR7_HUMAN
- Q5VVR8_HUMAN
- Q6FHW4_HUMAN
Variants for TCF7L2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TCF7L2 Gene
| 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 |
Residual Variation Intolerance Score:
11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.27;
76.41% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TCF7L2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCF7L2 Gene
Disorders for TCF7L2 Gene
(24) MalaCards diseases for TCF7L2 Gene - From: OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| diabetes mellitus, noninsulin-dependent |
|
|
| colorectal cancer |
|
|
| diabetes mellitus |
|
|
| gestational diabetes |
|
|
| neonatal diabetes mellitus |
|
|
Search TCF7L2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TF7L2_HUMAN- Note=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) [MIM:125853]: 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. {ECO:0000269 PubMed:16415884, ECO:0000269 PubMed:24390345}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Additional Disease Information for TCF7L2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for TCF7L2 Gene
Publications for TCF7L2 Gene
- Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. (PMID: 16415884) Grant SF … Stefansson K (Nature genetics 2006) 3 4 23 41
- Transcription factor 7-like 2-gene polymorphism is related to fasting C peptide in latent autoimmune diabetes in adults (LADA). (PMID: 19533015) Szepietowska B … Szelachowska M (Acta diabetologica 2010) 3 23 41
- Relationship of five type 2 diabetes candidate gene polymorphisms to the age at diagnosis of diabetes in the Slovakian population. (PMID: 20437825) Kozarova M … Tkac I (Bratislavske lekarske listy 2010) 3 23 41
- The T-allele of TCF7L2 rs7903146 associates with a reduced compensation of insulin secretion for insulin resistance induced by 9 days of bed rest. (PMID: 20107109) Alibegovic AC … Vaag A (Diabetes 2010) 3 23 41
- TCF7L2 rs7903146-macronutrient interaction in obese individuals' responses to a 10-wk randomized hypoenergetic diet. (PMID: 20032493) Grau K … Sørensen TI (The American journal of clinical nutrition 2010) 3 23 41
ExternalLinks
Products for TCF7L2 Gene
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- Browse OriGene Inhibitory RNA Products For TCF7L2
- OriGene qPCR primer pairs for TCF7L2
- OriGene CRISPR knockouts for TCF7L2
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