TCF4
entrez
6925
canonical
uniprot
P15884
canonical
ensembl
ENSG00000196628
resolver
ensp
ENSP00000346440
resolver
ensp
ENSP00000348374
resolver
ensp
ENSP00000381382
resolver
ensp
ENSP00000409447
resolver
ensp
ENSP00000439656
resolver
ensp
ENSP00000439827
resolver
ensp
ENSP00000440731
resolver
ensp
ENSP00000441562
resolver
ensp
ENSP00000445202
resolver
ensp
ENSP00000455135
resolver
ensp
ENSP00000455179
resolver
ensp
ENSP00000455261
resolver
ensp
ENSP00000455346
resolver
ensp
ENSP00000455418
resolver
ensp
ENSP00000455763
resolver
ensp
ENSP00000457263
resolver
ensp
ENSP00000457649
resolver
ensp
ENSP00000457765
resolver
ensp
ENSP00000486670
resolver
ensp
ENSP00000490832
resolver
ensp
ENSP00000490883
resolver
ensp
ENSP00000494380
resolver
ensp
ENSP00000501758
resolver
ensp
ENSP00000526173
resolver
ensp
ENSP00000526177
resolver
ensp
ENSP00000526178
resolver
ensp
ENSP00000526180
resolver
ensp
ENSP00000691143
resolver
ensp
ENSP00000691144
resolver
ensp
ENSP00000691145
resolver
enst
ENST00000398339
resolver
enst
ENST00000564403
resolver
enst
ENST00000568740
resolver
enst
ENST00000636822
resolver
enst
ENST00000637169
resolver
enst
ENST00000643689
resolver
enst
ENST00000675707
resolver
genesymbol
TCF4
resolver
genesymbol_syn
BHLHB19
resolver
genesymbol_syn
ITF2
resolver
genesymbol_syn
SEF2
resolver
hgnc
HGNC:11634
resolver
uniprot
A0A1B0GW91
resolver
uniprot
A0A1B0GWD5
resolver
uniprot
B3KT62
resolver
uniprot
B3KUC0
resolver
uniprot
B3KVA4
resolver
uniprot
B4DT37
resolver
uniprot
B4DUG3
resolver
uniprot
B7Z5M6
resolver
uniprot
B7Z6Y1
resolver
uniprot
E9PH57
resolver
uniprot
G0LNT9
resolver
uniprot
G0LNU0
resolver
uniprot
G0LNU1
resolver
uniprot
G0LNU2
resolver
uniprot
G0LNU4
resolver
uniprot
G0LNU5
resolver
uniprot
G0LNU8
resolver
uniprot
G0LNU9
resolver
uniprot
G0LNV0
resolver
uniprot
G0LNV1
resolver
uniprot
G0LNV2
resolver
uniprot
H3BPJ7
resolver
uniprot
H3BPQ1
resolver
uniprot
H3BTP3
resolver
uniprot
Q08AP2
resolver
uniprot
Q08AP3
resolver
uniprot
Q15439
resolver
uniprot
Q15440
resolver
uniprot
Q15441
resolver
uniprot_entry
A0A1B0GW91_HUMAN
resolver
uniprot_entry
A0A1B0GWD5_HUMAN
resolver
uniprot_entry
B3KVA4_HUMAN
resolver
uniprot_entry
E9PH57_HUMAN
resolver
uniprot_entry
H3BPJ7_HUMAN
resolver
uniprot_entry
H3BTP3_HUMAN
resolver
uniprot_entry
ITF2_HUMAN
resolver
uniprot_sec
B3KT62
resolver
uniprot_sec
B3KUC0
resolver
uniprot_sec
B4DT37
resolver
uniprot_sec
B4DUG3
resolver
uniprot_sec
B7Z5M6
resolver
uniprot_sec
B7Z6Y1
resolver
uniprot_sec
G0LNT9
resolver
uniprot_sec
G0LNU0
resolver
uniprot_sec
G0LNU1
resolver
uniprot_sec
G0LNU2
resolver
uniprot_sec
G0LNU4
resolver
uniprot_sec
G0LNU5
resolver
uniprot_sec
G0LNU8
resolver
uniprot_sec
G0LNU9
resolver
uniprot_sec
G0LNV0
resolver
uniprot_sec
G0LNV1
resolver
uniprot_sec
G0LNV2
resolver
uniprot_sec
H3BPQ1
resolver
uniprot_sec
Q08AP2
resolver
uniprot_sec
Q08AP3
resolver
uniprot_sec
Q15439
resolver
uniprot_sec
Q15440
resolver
uniprot_sec
Q15441
resolver
amino_acid_sequence
MHHQQRMAALGTDKELSDLLDFSAMFSPPVSSGKNGPTSLASGHFTGSNVEDRSSSGSWGNGGHPSPSRNYGDGTPYDHMTSRDLGSHDNLSPPFVNSRIQSKTERGSYSSYGRESNLQGCHQQSLLGGDMDMGNPGTLSPTKPGSQYYQYSSNNPRRRPLHSSAMEVQTKKVRKVPPGLPSSVYAPSASTADYNRDSPGYPSSKPATSTFPSSFFMQDGHHSSDPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPMSTFHRSGTNHYSTSSCTPPANGTDSIMANRGSGAAGSSQTGDALGKALASIYSPDHTNNSFSSNPSTPVGSPPSLSAGTAVWSRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPSTAMPGGHGDMHGIIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQVPVPQLPVQSATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQDTKSSEDKKLDDDKKDIKSITSNNDDEDLTPEQKAEREKERRMANNARERLRVRDINEAFKELGRMVQLHLKSDKPQTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREEEKVSSEPPPLSLAGPHPGMGDASNHMGQM
uniprot
proteins
disease_involvement
DISEASE: Pitt-Hopkins syndrome (PTHS) [MIM:610954]: A syndrome characterized by intellectual disability, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea. Features include intellectual disability with severe speech impairment, normal growth parameters at birth, postnatal microcephaly, breathing anomalies, severe motor developmental delay, motor incoordination, ocular anomalies, constipation, seizures, typical behavior and subtle brain abnormalities. {ECO:0000269|PubMed:17436254, ECO:0000269|PubMed:17436255, ECO:0000269|PubMed:18728071, ECO:0000269|PubMed:19235238, ECO:0000269|PubMed:20184619, ECO:0000269|PubMed:22045651, ECO:0000269|PubMed:22777675, ECO:0000269|PubMed:25356899}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Corneal dystrophy, Fuchs endothelial, 3 (FECD3) [MIM:613267]: A late-onset form of Fuchs endothelial corneal dystrophy, a disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. {ECO:0000269|PubMed:24255041, ECO:0000269|PubMed:25168903, ECO:0000269|PubMed:25593321}. Note=The disease is caused by variants affecting the gene represented in this entry. Causative mutations are heterozygous TCF4 intronic trinucleotide repeat expansions (CTG)n. {ECO:0000269|PubMed:24255041, ECO:0000269|PubMed:25168903, ECO:0000269|PubMed:25593321}.; DISEASE: Note=Defects in TCF4 may cause autosomal dominant symmetrical acral keratoderma (SAK)syndrome. Symmetrical acral keratodermadefines is characterized by brown/black hyperkeratotic patches symmetrically distributed on the acral regions, especially the wrists, ankles, dorsa of hands, fingers and feet affects young and middle aged men. Patients have epidermis thickened by acanthosis and compact stratum corneum (PubMed:28921696). {ECO:0000269|PubMed:28921696}.
uniprot
proteins
function
FUNCTION: Transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Binds to the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription (By similarity). Preferentially binds to either 5'-ACANNTGT-3' or 5'-CCANNTGG-3'. {ECO:0000250}.
uniprot
proteins
mass_dalton
71308
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
1681116
uniprot
proteins
pubmed
17436254
uniprot
proteins
pubmed
17436255
uniprot
proteins
pubmed
17467953
uniprot
proteins
pubmed
18728071
uniprot
proteins
pubmed
19235238
uniprot
proteins
pubmed
20184619
uniprot
proteins
pubmed
2105528
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21789225
uniprot
proteins
pubmed
22045651
uniprot
proteins
pubmed
22777675
uniprot
proteins
pubmed
2308860
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24094747
uniprot
proteins
pubmed
24255041
uniprot
proteins
pubmed
25168903
uniprot
proteins
pubmed
25356899
uniprot
proteins
pubmed
25466284
uniprot
proteins
pubmed
25593321
uniprot
proteins
pubmed
28921696
uniprot
proteins
pubmed
9302263
uniprot
proteins
sequence_length
667
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981, ECO:0000269|PubMed:22777675}.
uniprot
proteins