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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
98
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autism Pathogenic rs2137155220 RCV003223494
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality Likely pathogenic rs2137178800 RCV001754559
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay Likely pathogenic rs2136929776 RCV002274381
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Accessory nipple Accessory Nipple HPO_DG
★☆☆☆☆
Found in Text Mining only
Accessory nipple Accessory Nipple CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 21390130, 30551418
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 15667799, 23224985
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma CTD_human_DG 21892161
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 24836286, 26965516, 29471430, 30510241, 30529582
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer HPO_DG
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 23224985
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Basal Cell Adenocarcinoma CTD_human_DG 21892161
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Oxyphilic Adenocarcinoma CTD_human_DG 21892161
★☆☆☆☆
Found in Text Mining only