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Gene id 6925
Gene Summary    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol TCF4   Gene   UCSC   Ensembl
Aliases CDG2T, E2-2, FECD3, ITF-2, ITF2, PTHS, SEF-2, SEF2, SEF2-1, SEF2-1A, SEF2-1B, SEF2-1D, TCF-4, bHLHb19
Gene name transcription factor 4
Alternate names transcription factor 4, SL3-3 enhancer factor 2, class B basic helix-loop-helix protein 19, immunoglobulin transcription factor 2,
Gene location 18q21.2 (55635956: 55222184)     Exons: 34     NC_000018.10
Gene summary(Entrez) This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expresse
OMIM 602272

Protein Summary
Protein general information P15884  

Name: Transcription factor 4 (TCF 4) (Class B basic helix loop helix protein 19) (bHLHb19) (Immunoglobulin transcription factor 2) (ITF 2) (SL3 3 enhancer factor 2) (SEF 2)

Length: 667  Mass: 71308

Tissue specificity: Expressed in adult heart, brain, placenta, skeletal muscle and to a lesser extent in the lung. In developing embryonic tissues, expression mostly occurs in the brain.

Sequence MHHQQRMAALGTDKELSDLLDFSAMFSPPVSSGKNGPTSLASGHFTGSNVEDRSSSGSWGNGGHPSPSRNYGDGT
PYDHMTSRDLGSHDNLSPPFVNSRIQSKTERGSYSSYGRESNLQGCHQQSLLGGDMDMGNPGTLSPTKPGSQYYQ
YSSNNPRRRPLHSSAMEVQTKKVRKVPPGLPSSVYAPSASTADYNRDSPGYPSSKPATSTFPSSFFMQDGHHSSD
PWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPMSTFHRSGTNHYSTSSCTPPA
NGTDSIMANRGSGAAGSSQTGDALGKALASIYSPDHTNNSFSSNPSTPVGSPPSLSAGTAVWSRNGGQASSSPNY
EGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPSTAMPGGHGDMHGIIGPSHNGAMGGLGSGYGTGLLSANRHSLM
VGTHREDGVALRGSHSLLPNQVPVPQLPVQSATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQD
TKSSEDKKLDDDKKDIKSITSNNDDEDLTPEQKAEREKERRMANNARERLRVRDINEAFKELGRMVQLHLKSDKP
QTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREEEKVSSEPPPLSLAGPHPGMGDASNHMGQM
Structural information
Protein Domains
 (564..61-)
(/note="bHLH-)
(/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
Interpro:  IPR011598  IPR036638  
Prosite:   PS50888
CDD:   cd00083

PDB:  		 2KWF 6OD3 6OD4 6OD5
PDBsum:   2KWF 6OD3 6OD4 6OD5

DIP:  
163
MINT:  
STRING:   ENSP00000381382
Other Databases GeneCards:  TCF4  Malacards:  TCF4

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0000790 nuclear chromatin
 IDA cellular component
GO:0000981 DNA-binding transcription
factor activity, RNA pol
ymerase II-specific
 ISM molecular function
GO:0000790 nuclear chromatin
 ISA cellular component
GO:0000981 DNA-binding transcription
factor activity, RNA pol
ymerase II-specific
 ISA molecular function
GO:0000978 RNA polymerase II cis-reg
ulatory region sequence-s
pecific DNA binding
 IBA molecular function
GO:0003700 DNA-binding transcription
factor activity
 IBA molecular function
GO:0042803 protein homodimerization
activity
 IBA molecular function
GO:0043425 bHLH transcription factor
binding
 IBA molecular function
GO:0045666 positive regulation of ne
uron differentiation
 IBA biological process
GO:0005634 nucleus
 IBA cellular component
GO:0005667 transcription regulator c
omplex
 IBA cellular component
GO:0045944 positive regulation of tr
anscription by RNA polyme
rase II
 IBA biological process
GO:0046982 protein heterodimerizatio
n activity
 IBA molecular function
GO:0045666 positive regulation of ne
uron differentiation
 ISS biological process
GO:0070888 E-box binding
 ISS molecular function
GO:0046982 protein heterodimerizatio
n activity
 ISS molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0046983 protein dimerization acti
vity
 IEA molecular function
GO:0030154 cell differentiation
 IEA biological process
GO:0005634 nucleus
 IEA cellular component
GO:0007399 nervous system developmen
t
 IEA biological process
GO:0003677 DNA binding
 IEA molecular function
GO:0003677 DNA binding
 IDA molecular function
GO:1990907 beta-catenin-TCF complex
 IPI cellular component
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0003700 DNA-binding transcription
factor activity
 IDA molecular function
GO:0000978 RNA polymerase II cis-reg
ulatory region sequence-s
pecific DNA binding
 ISS molecular function
GO:0001228 DNA-binding transcription
activator activity, RNA
polymerase II-specific
 ISS molecular function
GO:0000981 DNA-binding transcription
factor activity, RNA pol
ymerase II-specific
 ISS molecular function
GO:0001093 TFIIB-class transcription
factor binding
 ISS molecular function
GO:0070888 E-box binding
 ISS molecular function
GO:0065004 protein-DNA complex assem
bly
 ISS biological process
GO:0005634 nucleus
 IDA cellular component
GO:0005667 transcription regulator c
omplex
 ISS cellular component
GO:0045944 positive regulation of tr
anscription by RNA polyme
rase II
 ISS biological process
GO:0005634 nucleus
 IEA cellular component
GO:0003700 DNA-binding transcription
factor activity
 IDA molecular function
GO:0003677 DNA binding
 IDA molecular function
GO:0070369 beta-catenin-TCF7L2 compl
ex
 IDA cellular component
GO:0000978 RNA polymerase II cis-reg
ulatory region sequence-s
pecific DNA binding
 IDA molecular function
GO:0045893 positive regulation of tr
anscription, DNA-template
d
 IDA biological process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
 IDA biological process
GO:0005634 nucleus
 IDA cellular component
GO:0008013 beta-catenin binding
 IPI molecular function
GO:0008022 protein C-terminus bindin
g
 IPI molecular function

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
P06959CCKR signaling map
P06959CCKR signaling map

Diseases

Expand All | Collapse All
Associated diseases References
Fuchs corneal dystrophy KEGG:H00960
Pitt-Hopkins syndrome KEGG:H00756
Fuchs corneal dystrophy KEGG:H00960
Pitt-Hopkins syndrome KEGG:H00756
Cryptorchidism MIK: 28606200
Spermatogenic defects MIK: 31037746
Teratozoospermia MIK: 17327269

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract
31037746 Spermatoge
nic defect
s
16 (1 control,
15 cases)
 Male infertility GSE6023 analyzed using GEO2R
 Show abstract