Gene Gene information from NCBI Gene database.
Entrez ID 83439
Gene name Transcription factor 7 like 1
Gene symbol TCF7L1
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2p11.2
Summary This gene encodes a member of the T cell factor/lymphoid enhancer factor family of transcription factors. These transcription factors are activated by beta catenin, mediate the Wnt signaling pathway and are antagonized by the transforming growth factor be
miRNA miRNA information provided by mirtarbase database.
262
miRTarBase ID miRNA Experiments Reference
MIRT016640 hsa-miR-429 Reporter assay 20005803
MIRT020351 hsa-miR-200a-3p Reporter assay 20005803
MIRT021073 hsa-miR-200c-3p Reporter assay 20005803
MIRT021652 hsa-miR-141-3p Reporter assay 20005803
MIRT024127 hsa-miR-200b-3p Reporter assay 20005803
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0003677 Function DNA binding IEA
GO:0003677 Function DNA binding NAS 1741298, 11085512
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604652 11640 ENSG00000152284
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HCS4
Protein name Transcription factor 7-like 1 (HMG box transcription factor 3) (TCF-3)
Protein function Participates in the Wnt signaling pathway. Binds to DNA and acts as a repressor in the absence of CTNNB1, and as an activator in its presence. Necessary for the terminal differentiation of epidermal cells, the formation of keratohyalin granules
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08347 CTNNB1_binding 1 250 N-terminal CTNNB1 binding Family
PF00505 HMG_box 346 414 HMG (high mobility group) box Domain
Tissue specificity TISSUE SPECIFICITY: Detected in hair follicles and skin keratinocytes, and at lower levels in stomach epithelium. {ECO:0000269|PubMed:9916915}.
Sequence
MPQLGGGGGGGGGGSGGGGGSSAGAAGGGDDLGANDELIPFQDEGGEEQEPSSDSASAQR
DLDEVKSSLVNESENQSSSSDSEAERRPQPVRDTFQKPRDYFAEVRRPQDSAFFKGPPYP
GYPFLMIPDLSSPYLSNGPLSPGGARTYLQMKWPLLDVPSSATVKDTRSPSPAHLSNKVP
VVQHPHHMHPLTPLITYSNDHFSPGSPPTHLSPEIDPKTGIPRPPHPSELSPYYPLSPGA
VGQIPHPLGW
LVPQQGQPMYSLPPGGFRHPYPALAMNASMSSLVSSRFSPHMVAPAHPGL
PTSGIPHPAIVSPIVKQEPAPPSLSPAVSVKSPVTVKKEEEKKPHVKKPLNAFMLYMKEM
RAKVVAECTLKESAAINQILGRKWHNLSREEQAKYYELARKERQLHSQLYPTWS
ARDNYG
KKKKRKREKQLSQTQSQQQVQEAEGALASKSKKPCVQYLPPEKPCDSPASSHGSMLDSPA
TPSAALASPAAPAATHSEQAQPLSLTTKPETRAQLALHSAAFLSAKAAASSSGQMGSQPP
LLSRPLPLGSMPTALLASPPSFPATLHAHQALPVLQAQPLSLVTKSAH
Sequence length 588
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs34644194 RCV005922234
Lung cancer Benign rs34644194 RCV005922237
Malignant tumor of esophagus Benign rs34644194 RCV005922233
Sarcoma Benign rs34644194 RCV005922235
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bantu siderosis Associate 18840782
Bladder Exstrophy Associate 39500676
Carcinoma Hepatocellular Associate 29658607
Colonic Neoplasms Associate 36181111
Colorectal Neoplasms Associate 36105798, 36833408, 38224823
Diabetes Mellitus Type 2 Associate 18840782
Lung Neoplasms Associate 37307368
Mesothelioma Associate 35127947
Neoplasms Stimulate 30811526
Pulmonary Disease Chronic Obstructive Inhibit 21490961