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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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)
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
Cervical cancer Benign ClinVar
GWAS catalog
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
CERVICAL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORM Disgenet
★★☆☆☆
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
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 17311319, 24990612, 24997151
★☆☆☆☆
Found in Text Mining only
Bladder Exstrophy Bladder exstrophy Pubtator 39500676 Associate
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Burkitt`s Lymphoma BEFREE 24492847
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 29658607 Associate
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma GWASCAT_DG 30412241
★☆☆☆☆
Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia Lymphoblastic Leukemia BEFREE 11700047
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic neoplasm Pubtator 36181111 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 27333864, 28450117
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 36105798, 36833408, 38224823 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 18840782 Associate
★☆☆☆☆
Found in Text Mining only