Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6929
Gene name Gene Name - the full gene name approved by the HGNC.
Transcription factor 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TCF3
Synonyms (NCBI Gene) Gene synonyms aliases
AGM8, AGM8A, AGM8B, E2A, E47, ITF1, TCF-3, VDIR, bHLHb21, p75
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AGM8A, AGM8B
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the E protein (class I) family of helix-loop-helix transcription factors. E proteins activate transcription by binding to regulatory E-box sequences on target genes as heterodimers or homodimers, and are inhibited by heterodi
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs879255271 C>T Pathogenic Downstream transcript variant, missense variant, intron variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1599413207 C>T Likely-pathogenic Downstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant, intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT007321 hsa-miR-17-5p Luciferase reporter assay 23492770
MIRT007321 hsa-miR-17-5p Luciferase reporter assay 23492770
MIRT007321 hsa-miR-17-5p Luciferase reporter assay 23492770
MIRT023195 hsa-miR-124-3p Microarray 18668037
MIRT044472 hsa-miR-320a CLASH 23622248
Transcription factors
Transcription factor Regulation Reference
FIGLA Unknown 18499083
ID3 Repression 24492847
LDB1 Repression 10767331
LEF1 Unknown 8479911
LMX1B Activation 10767331
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 14576336
GO:0000785 Component Chromatin IDA 21828274
GO:0000785 Component Chromatin ISA
GO:0000791 Component Euchromatin IDA 10652346
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
147141 11633 ENSG00000071564
Protein
UniProt ID P15923
Protein name Transcription factor E2-alpha (Class B basic helix-loop-helix protein 21) (bHLHb21) (Immunoglobulin enhancer-binding factor E12/E47) (Immunoglobulin transcription factor 1) (Kappa-E2-binding factor) (Transcription factor 3) (TCF-3) (Transcription factor I
Protein function Transcriptional regulator involved in the initiation of neuronal differentiation and mesenchymal to epithelial transition (By similarity). Heterodimers between TCF3 and tissue-specific basic helix-loop-helix (bHLH) proteins play major roles in d
PDB 2MH0 , 2YPA , 2YPB , 3U5V , 6MGN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 550 603 Helix-loop-helix DNA-binding domain Domain
Sequence
MNQPQRMAPVGTDKELSDLLDFSMMFPLPVTNGKGRPASLAGAQFGGSGLEDRPSSGSWG
SGDQSSSSFDPSRTFSEGTHFTESHSSLSSSTFLGPGLGGKSGERGAYASFGRDAGVGGL
TQAGFLSGELALNSPGPLSPSGMKGTSQYYPSYSGSSRRRAADGSLDTQPKKVRKVPPGL
PSSVYPPSSGEDYGRDATAYPSAKTPSSTYPAPFYVADGSLHPSAELWSPPGQAGFGPML
GGGSSPLPLPPGSGPVGSSGSSSTFGGLHQHERMGYQLHGAEVNGGLPSASSFSSAPGAT
YGGVSSHTPPVSGADSLLGSRGTTAGSSGDALGKALASIYSPDHSSNNFSSSPSTPVGSP
QGLAGTSQWPRAGAPGALSPSYDGGLHGLQSKIEDHLDEAIHVLRSHAVGTAGDMHTLLP
GHGALASGFTGPMSLGGRHAGLVGGSHPEDGLAGSTSLMHNHAALPSQPGTLPDLSRPPD
SYSGLGRAGATAAASEIKREEKEDEENTSAADHSEEEKKELKAPRARTSPDEDEDDLLPP
EQKAEREKERRVANNARERLRVRDINEAFKELGRMCQLHLNSEKPQTKLLILHQAVSVIL
NLE
QQVRERNLNPKAACLKRREEEKVSGVVGDPQMVLSAPHPGLSEAHNPAGHM
Sequence length 654
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Signaling pathways regulating pluripotency of stem cells
Human T-cell leukemia virus 1 infection
Transcriptional misregulation in cancer
  Myogenesis
RUNX1 regulates transcription of genes involved in differentiation of HSCs
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agammaglobulinemia Agammaglobulinemia, Agammaglobulinemia, non-Bruton type, AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT, Autosomal agammaglobulinemia rs2134166251, rs128620183, rs128620185, rs128621193, rs128621201, rs128621204, rs121912424, rs267606711, rs376256147, rs281865422, rs1600631593, rs1555843601, rs267606871, rs879255271, rs2142904392
View all (17 more)
29114388, 24216514
Arthritis Arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Bronchiectasis Bronchiectasis rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016
View all (214 more)
Burkitt`s lymphoma Burkitt Lymphoma, Burkitt Leukemia rs28933407, rs121918683, rs121918684 1967982, 17244677
Unknown
Disease term Disease name Evidence References Source
Osteomyelitis Osteomyelitis ClinVar
Otitis media Chronic otitis media, Recurrent otitis media ClinVar
Diabetes Diabetes GWAS
Alzheimer disease Alzheimer disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 33833226
Adenocarcinoma in Situ Associate 23688269
Adenoviridae Infections Associate 10846061
Agammaglobulinemia Associate 24216514
Anemia Diamond Blackfan Associate 9292545
Aortic Aneurysm Abdominal Inhibit 37721971
Breast Neoplasms Associate 34700372, 36829181
Bronchiectasis Associate 40703516
Burkitt Lymphoma Associate 22885699, 26437030, 26468873, 26567765, 26712879, 28209658, 30567752, 32449435, 40572059
Burkitt Lymphoma Stimulate 34658308