Gene Gene information from NCBI Gene database.
Entrez ID 51176
Gene name Lymphoid enhancer binding factor 1
Gene symbol LEF1
Synonyms (NCBI Gene)
ECTD1ECTD17LEF-1TCF10TCF1ALPHATCF7L3
Chromosome 4
Chromosome location 4q25
Summary This gene encodes a transcription factor belonging to a family of proteins that share homology with the high mobility group protein-1. The protein encoded by this gene can bind to a functionally important site in the T-cell receptor-alpha enhancer, thereb
miRNA miRNA information provided by mirtarbase database.
55
miRTarBase ID miRNA Experiments Reference
MIRT016343 hsa-miR-193b-3p Microarray 20304954
MIRT025380 hsa-miR-34a-5p Reporter assay;Proteomics 21566225
MIRT053004 hsa-miR-218-5p Luciferase reporter assayWestern blot 22766851
MIRT053005 hsa-miR-449a Luciferase reporter assayqRT-PCRWestern blot 22769578
MIRT054053 hsa-miR-34c-3p Luciferase reporter assayWestern blot 22421157
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
AES Activation 20676368
LMO2 Repression 22517897
PAX5 Activation 9545244
PITX2 Activation 17785445
ZBTB16 Unknown 19723763
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
135
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 20363964
GO:0000785 Component Chromatin IBA
GO:0000976 Function Transcription cis-regulatory region binding IEA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 23001182
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
153245 6551 ENSG00000138795
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UJU2
Protein name Lymphoid enhancer-binding factor 1 (LEF-1) (T cell-specific transcription factor 1-alpha) (TCF1-alpha)
Protein function Transcription factor that binds DNA in a sequence-specific manner (PubMed:2010090). Participates in the Wnt signaling pathway (By similarity). Activates transcription of target genes in the presence of CTNNB1 and EP300 (By similarity). PIAG anta
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08347 CTNNB1_binding 1 213 N-terminal CTNNB1 binding Family
PF00505 HMG_box 299 367 HMG (high mobility group) box Domain
Tissue specificity TISSUE SPECIFICITY: Detected in thymus. Not detected in normal colon, but highly expressed in colon cancer biopsies and colon cancer cell lines. Expressed in several pancreatic tumors and weakly expressed in normal pancreatic tissue. Isoforms 1 and 5 are
Sequence
Sequence length 399
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
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
Ectodermal dysplasia 17 with or without limb malformations Pathogenic rs2126274969, rs2110266987 RCV005416217
RCV005416218
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectrodactyly Pathogenic rs2126274969, rs2110266987 RCV003232418
RCV003232419
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectrodactyly and ectodermal dysplasia without cleft lip/palate Pathogenic rs2110433384 RCV001775057
★★★★☆
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
Abnormal radial ray morphology Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA GWAS catalog
★★☆☆☆
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 leukemia Leukemia BEFREE 18316418
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 15756419, 22010100, 23325550, 25942645, 28670499
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 24378360
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 25394300
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 23325550
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 25394300
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Basal Cell Adenocarcinoma BEFREE 28972308
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 28972308
★☆☆☆☆
Found in Text Mining only
Adenoma, Basal Cell Adenoma BEFREE 28972308
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 11935128, 11986304, 15107603, 16378739, 18076571
★☆☆☆☆
Found in Text Mining only