Gene Gene information from NCBI Gene database.
Entrez ID 6934
Gene name Transcription factor 7 like 2
Gene symbol TCF7L2
Synonyms (NCBI Gene)
TCF-4TCF4
Chromosome 10
Chromosome location 10q25.2-q25.3
Summary 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
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs7903146 C>G,T Drug-response, risk-factor Intron variant, genic upstream transcript variant
rs11196205 G>A,C,T Risk-factor Intron variant, genic upstream transcript variant
rs12255372 G>A,T Risk-factor Intron variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
478
miRTarBase ID miRNA Experiments Reference
MIRT043583 hsa-miR-148b-3p CLASH 23622248
MIRT043052 hsa-miR-324-5p CLASH 23622248
MIRT612391 hsa-miR-32-3p HITS-CLIP 23824327
MIRT612390 hsa-miR-155-3p HITS-CLIP 23824327
MIRT612389 hsa-miR-3685 HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
AR Unknown 12799378
FOXA2 Unknown 22951069
GATA3 Unknown 22951069
HNF4A Unknown 22951069
TP53 Repression 14990988
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
66
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 12799378
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin IBA
GO:0000785 Component Chromatin IDA 19443654
GO:0000976 Function Transcription cis-regulatory region binding IDA 20128911
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602228 11641 ENSG00000148737
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NQB0
Protein name Transcription factor 7-like 2 (HMG box transcription factor 4) (T-cell-specific transcription factor 4) (T-cell factor 4) (TCF-4) (hTCF-4)
Protein function Participates in the Wnt signaling pathway and modulates MYC expression by binding to its promoter in a sequence-specific manner. Acts as a repressor in the absence of CTNNB1, and as activator in its presence. Activates transcription from promote
PDB 1JDH , 1JPW , 2GL7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08347 CTNNB1_binding 1 259 N-terminal CTNNB1 binding Family
PF00505 HMG_box 350 418 HMG (high mobility group) box Domain
Tissue specificity 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 an
Sequence
MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSS
DSEAERRPPPRSESFRDKSRESLEEAAKRQDGGLFKGPPYPGYPFIMIPDLTSPYLPNGS
LSPTARTLHFQSGSTHYSAYKTIEHQIAVQYLQMKWPLLDVQAGSLQSRQALKDARSPSP
AHIVSNKVPVVQHPHHVHPLTPLITYSNEHFTPGNPPPHLPADVDPKTGIPRPPHPPDIS
PYYPLSPGTVGQIPHPLGW
LVPQQGQPVYPITTGGFRHPYPTALTVNASMSRFPPHMVPP
HHTLHTTGIPHPAIVTPTVKQESSQSDVGSLHSSKHQDSKKEEEKKKPHIKKPLNAFMLY
MKEMRAKVVAECTLKESAAINQILGRRWHALSREEQAKYYELARKERQLHMQLYPGWS
AR
DNYGKKKKRKRDKQPGETNEHSECFLNPCLSLPPITDLSAPKKCRARFGLDQQNNWCGPC
RRKKKCVRYIQGEGSCLSPPSSDGSLLDSPPPSPNLLGSPPRDAKSQTEQTQPLSLSLKP
DPLAHLSMMPPPPALLLAEATHKASALCPNGALDLPPAALQPAAPSSSIAQPSTSSLHSH
SSLAGTQPQPLSLVTKSLE
Sequence length 619
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
22
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism Pathogenic rs2137155220 RCV003223494
Neurodevelopmental abnormality Likely pathogenic rs2137178800 RCV001754559
Neurodevelopmental delay Likely pathogenic rs2136929776 RCV002274381
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs72828146 RCV005923689
Diabetes mellitus type 2, susceptibility to risk factor rs7903146, rs12255372, rs11196205 RCV000007838
RCV000007839
RCV000007840
Intellectual disability Uncertain significance rs766204038 RCV003458321
TCF7L2-related disorder Likely benign; Benign; Uncertain significance rs377724519, rs1173115336, rs138649767, rs140603697, rs753753787, rs375945855, rs762632915, rs369811726, rs147601829 RCV003953980
RCV003954114
RCV003979681
RCV003914181
RCV003944315
RCV003964745
RCV003969826
RCV003910635
RCV003933067
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 40303486
Adenocarcinoma Associate 31211453
Adenoma Associate 18478343, 27221540, 27769063
Adenomatous Polyposis Coli Associate 15972967, 32170005
Alzheimer Disease Associate 38458367
Angina Stable Associate 40303486
Aortic Aneurysm Thoracic Associate 34265237
Arthritis Rheumatoid Associate 12428226
Atherosclerosis Associate 18437354, 24371822
Atherosclerosis Inhibit 40303486