TCF3
entrez
6929
canonical
uniprot
P15923
canonical
ensembl
ENSG00000071564
resolver
ensp
ENSP00000262965
resolver
ensp
ENSP00000378813
resolver
ensp
ENSP00000396363
resolver
ensp
ENSP00000468487
resolver
ensp
ENSP00000533550
resolver
ensp
ENSP00000533551
resolver
ensp
ENSP00000533552
resolver
ensp
ENSP00000602023
resolver
ensp
ENSP00000602025
resolver
ensp
ENSP00000602026
resolver
ensp
ENSP00000602027
resolver
ensp
ENSP00000602028
resolver
ensp
ENSP00000602029
resolver
ensp
ENSP00000618525
resolver
genesymbol
TCF3
resolver
genesymbol_syn
BHLHB21
resolver
genesymbol_syn
E2A
resolver
genesymbol_syn
ITF1
resolver
hgnc
HGNC:11633
resolver
uniprot
P15883
resolver
uniprot
Q14208
resolver
uniprot
Q14635
resolver
uniprot
Q14636
resolver
uniprot
Q2TB39
resolver
uniprot
Q2TB40
resolver
uniprot
Q9UPI9
resolver
uniprot_entry
TFE2_HUMAN
resolver
uniprot_sec
P15883
resolver
uniprot_sec
Q14208
resolver
uniprot_sec
Q14635
resolver
uniprot_sec
Q14636
resolver
uniprot_sec
Q2TB39
resolver
uniprot_sec
Q2TB40
resolver
uniprot_sec
Q9UPI9
resolver
amino_acid_sequence
MNQPQRMAPVGTDKELSDLLDFSMMFPLPVTNGKGRPASLAGAQFGGSGLEDRPSSGSWGSGDQSSSSFDPSRTFSEGTHFTESHSSLSSSTFLGPGLGGKSGERGAYASFGRDAGVGGLTQAGFLSGELALNSPGPLSPSGMKGTSQYYPSYSGSSRRRAADGSLDTQPKKVRKVPPGLPSSVYPPSSGEDYGRDATAYPSAKTPSSTYPAPFYVADGSLHPSAELWSPPGQAGFGPMLGGGSSPLPLPPGSGPVGSSGSSSTFGGLHQHERMGYQLHGAEVNGGLPSASSFSSAPGATYGGVSSHTPPVSGADSLLGSRGTTAGSSGDALGKALASIYSPDHSSNNFSSSPSTPVGSPQGLAGTSQWPRAGAPGALSPSYDGGLHGLQSKIEDHLDEAIHVLRSHAVGTAGDMHTLLPGHGALASGFTGPMSLGGRHAGLVGGSHPEDGLAGSTSLMHNHAALPSQPGTLPDLSRPPDSYSGLGRAGATAAASEIKREEKEDEENTSAADHSEEEKKELKAPRARTSPDEDEDDLLPPEQKAEREKERRVANNARERLRVRDINEAFKELGRMCQLHLNSEKPQTKLLILHQAVSVILNLEQQVRERNLNPKAACLKRREEEKVSGVVGDPQMVLSAPHPGLSEAHNPAGHM
uniprot
proteins
disease_involvement
DISEASE: Note=Chromosomal aberrations involving TCF3 are cause of forms of pre-B-cell acute lymphoblastic leukemia (B-ALL). Translocation t(1;19)(q23;p13.3) with PBX1. TCF3-PBX1 transforms cells by constitutively activating transcription of genes regulated by PBX1 or by other members of the PBX protein family (PubMed:1671560, PubMed:1967983). Translocation t(17;19)(q22;p13.3) with HLF (PubMed:1386162). Inversion inv(19)(p13;q13) with TFPT (PubMed:10086727). {ECO:0000269|PubMed:10086727, ECO:0000269|PubMed:1386162, ECO:0000269|PubMed:1671560, ECO:0000269|PubMed:1967983}.; DISEASE: Agammaglobulinemia 8A, autosomal dominant (AGM8A) [MIM:616941]: A form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. {ECO:0000269|PubMed:24216514}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Agammaglobulinemia 8B, autosomal recessive (AGM8B) [MIM:619824]: A form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. AGM8B is characterized by onset of recurrent infections in early childhood. AGM8B patients may show dysmorphic facies and subtle abnormalities of other immune cells, such as T cells. {ECO:0000269|PubMed:28532655, ECO:0000269|PubMed:30063982}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 determining tissue-specific cell fate during embryogenesis, like muscle or early B-cell differentiation (By similarity). Together with TCF15, required for the mesenchymal to epithelial transition (By similarity). Dimers bind DNA on E-box motifs: 5'-CANNTG-3' (By similarity). Binds to the kappa-E2 site in the kappa immunoglobulin gene enhancer (PubMed:2493990). Binds to IEB1 and IEB2, which are short DNA sequences in the insulin gene transcription control region (By similarity). {ECO:0000250|UniProtKB:P15806, ECO:0000269|PubMed:2493990}.; FUNCTION: [Isoform E47]: Facilitates ATOH7 binding to DNA at the consensus sequence 5'-CAGGTG-3', and positively regulates transcriptional activity. {ECO:0000269|PubMed:31696227}.
uniprot
proteins
mass_dalton
67600
uniprot
proteins
post_translational_modification
PTM: Phosphorylated following NGF stimulation. {ECO:0000250}.; PTM: Undergoes Notch-induced ubiquitination and subsequent proteasomal degradation which is mediated by ASB1 or ASB2, the substrate-recognition components of probable ECS E3 ubiquitin-protein ligase complexes. {ECO:0000269|PubMed:21119685}.
uniprot
proteins
pubmed
10086727
uniprot
proteins
pubmed
1386162
uniprot
proteins
pubmed
14752053
uniprot
proteins
pubmed
15044608
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1671560
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17467953
uniprot
proteins
pubmed
1818757
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
1967982
uniprot
proteins
pubmed
1967983
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
2105528
uniprot
proteins
pubmed
21119685
uniprot
proteins
pubmed
2112746
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
2308859
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24216514
uniprot
proteins
pubmed
2493990
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25466284
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28532655
uniprot
proteins
pubmed
30063982
uniprot
proteins
pubmed
31696227
uniprot
proteins
pubmed
8433970
uniprot
proteins
pubmed
9409784
uniprot
proteins
sequence_length
654
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:31696227}.
uniprot
proteins