TCF4 Gene
protein-coding GIFtS : 66
GCID: GC18 M052889
transcription factor 4
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Aliasesfor TCF4 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Transcription Factor 4 1 2 ITF-22 3 ITF21 2 3 5 SEF-22 3 BHLHb191 TCF-42 3 SEF22 3 5 SL3-3 Enhancer Factor 22 3 E2-21 2 PTHS2 5 SEF2-1B1 2 SEF2-12 Class B Basic Helix-Loop-Helix Protein 192 3 SEF2-1A2 Immunoglobulin Transcription Factor 22 3 BHLHB193
Export aliases for TCF4 gene to outside databases Previous GC identifers: GC18M052983 GC18M052797 GC18M052679 GC18M051043 GC18M051045 GC18M049599
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Summariesfor TCF4 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for TCF4 : 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 expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. Multiple alternatively spliced transcript variants that encode different proteins have been described. (provided by RefSeq, Aug 2011) UniProtKB/Swiss-Prot: ITF2_HUMAN, P15884 Function : Transcription factor that binds to the immunoglobulin enchancer Mu-E5/KE5-motif. Involved in the initiationof 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' Gene Wiki entry for TCF4
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Genomic Viewsfor TCF4 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000018.9 NC_018929.1 NT_025028.14 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the TCF4 gene promoter: FOXD3 C/EBPalpha E47 CREB SRY Nkx6-1 deltaCREB POU2F1a Zic3 Other transcription factors Search SABiosciences Chromatin IP Primers for TCF4 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat TCF4
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 18q21.1 Ensembl cytogenetic band: 18q21.2 HGNC cytogenetic band: 18q21.1 TCF4 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 18 GeneLoc Exon Structure
GeneLoc location for GC18M052889: view genomic region
(about GC identifiers )
Start:
52,889,562 bp from pter
End:
53,332,018 bp from pter
Size:
442,457 bases
Orientation:
minus strand
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Proteinsfor TCF4 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: ITF2_HUMAN, P15884 (See
protein sequence )Recommended Name: Transcription factor 4 Size : 667 amino acids; 71308 Da
Subunit : Efficient DNA binding requires dimerization with another bHLH protein. Forms homo- or heterooligomers withmyogenin. Interacts with HIVEP2. Interacts with NEUROD2 (By similarity)
Subcellular location : Nucleus (Probable)
Sequence caution : Sequence=AAA60310.1; Type=Miscellaneous discrepancy; Note=Incomplete and probable erroneous sequence;Sequence=AAA60312.1; Type=Miscellaneous discrepancy; Note=Incomplete and probable erroneous sequence;
1 PDB 3D structure from and Proteopedia for TCF4 :2KWF (3D)
 
Secondary accessions : B3KT62 B3KUC0 B4DT37 B4DUG3 G0LNT9 G0LNU0 G0LNU1 G0LNU2 G0LNU8 G0LNU9 G0LNV0G0LNV1 Q08AP2 Q08AP3 Q15439 Q15440 Q15441 Alternative splicing : 11 isoforms : P15884-1 P15884-2 P15884-3 P15884-4 P15884-5 P15884-6 P15884-7 P15884-8 P15884-9 P15884-10 P15884-11 Explore the universe of human proteins at neXtProt for TCF4: NX_P15884 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P15884 TCF4 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins (12 alternative transcripts):
NP_001077431.1 NP_001230155.1 NP_001230156.1 NP_001230157.1 NP_001230159.1 NP_001230160.1 NP_001230161.1 NP_001230162.1 NP_001230163.1 NP_001230164.1 NP_001230165.1 NP_003190.1 ENSEMBL proteins: ENSP00000348374 ENSP00000455135 ENSP00000409447 ENSP00000439656 ENSP00000445202 ENSP00000440731 ENSP00000457649 ENSP00000455346 ENSP00000439827 ENSP00000441562 ENSP00000455179 ENSP00000457765 ENSP00000455984 ENSP00000455763 ENSP00000455261 ENSP00000454366 ENSP00000455418 ENSP00000456125 ENSP00000457263 ENSP00000381382 ENSP00000454647 ENSP00000468729 ENSP00000455304 ENSP00000456983 ENSP00000457392 ENSP00000455071 ENSP00000458122 ENSP00000456802 ENSP00000457245 ENSP00000454584 ENSP00000468277 ENSP00000456220 ENSP00000457113 ENSP00000455163 ENSP00000456917 ENSP00000457747 ENSP00000454328 ENSP00000455450 ENSP00000454866 ENSP00000454352 ENSP00000457082 ENSP00000454441 ENSP00000346440 Reactome Protein details: P15884 Human Recombinant Protein Products: Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view) : About this table
TCF4 for ontologies About GeneDecksing TCF4 Antibody Products: Assay Products for TCF4:
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Protein
Domains / Familiesfor TCF4 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
TCF4 for domains About GeneDecksing 1 InterPro domain/family :
Graphical View of Domain Structure for InterPro Entry P15884 ProtoNet protein and cluster: P15884
1 Blocks protein family : IPB001092 Basic helix-loop-helix dimerization domain bHLH UniProtKB/Swiss-Prot: ITF2_HUMAN, P15884 Domain : the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcriptionfactors Similarity : Contains 1 bHLH (basic helix-loop-helix) domain
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Functionfor TCF4 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: ITF2_HUMAN, P15884 Function : Transcription factor that binds to the immunoglobulin enchancer Mu-E5/KE5-motif. Involved in the initiationof 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'
Genatlas biochemistry entry for TCF4 : transcription factor 4,with several alternatively spliced isoforms Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for TCF4 (see first 1 )NM_001083962 (human cat#: RC224345 ) NM_003199 (human cat#: RC217718 ) BC014293 (mouse cat#: MR208151 ) NM_001083967 (mouse cat#: MR222956 ) NM_013685 (mouse cat#: MR209915 ) NM_053369 (rat cat#: RR212726 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for TCF4 (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): TCF4 (NM_001083962 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TCF4 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat TCF4
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCF4
Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12 ): About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
ISS 8978694 GO:0001011 sequence-specific DNA binding RNA polymerase recruiting transcription factor activity
ISS 8978694 GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
ISS 8978694 GO:0001087 TFIIB-class binding transcription factor activity
ISS 8978694 GO:0001093 TFIIB-class transcription factor binding
ISS 8978694
TCF4 for ontologies About GeneDecksing 3 GenomeRNAi human phenotypes for TCF4 :Animal Models: Mouse knock-outs for TCF4: Tcf4 tm1Zhu Tcf4 tm1.1Hmb 8 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Tcf4) :
TCF4 for phenotypes About GeneDecksing
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Pathways & Interactionsfor TCF4 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/14 super-pathways (see all 14 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Rho Family GTPases 2 Human Embryonic Stem Cell Pluripotency 3 Activation of p38 alpha/beta MAPK 4 Selected targets of Oct-3/4 5 Neural Crest Differentiation
Pathway sources See GeneCards unified pathways Show all pathways 1 EMD Millipore Pathway for TCF4 5/10 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TCF4 (see all 10 )4 BioSystems Pathways for TCF4 3
Reactome Pathways for TCF4
TCF4 for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TCF4 STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/53 Interacting proteins for TCF4 (P15884 1 , 2 , 3 ENSP00000346440 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 53 )About this table Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8 ): About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0000122 negative regulation of transcription from RNA polymerase II promoter
IEA -- GO:0006352 DNA-dependent transcription, initiation
ISS 8978694 GO:0006355 regulation of transcription, DNA-dependent
-- -- GO:0006367 transcription initiation from RNA polymerase II promoter
ISS 8978694 GO:0045666 positive regulation of neuron differentiation
ISS --
TCF4 for ontologies About GeneDecksing
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Drugs & Compoundsfor TCF4 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
TCF4 for compounds About GeneDecksing Browse Tocris compounds for TCF4 2 Novoseek chemical compound relationships for TCF4 gene About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
mononucleotide
48.4
3
10918391 (2)
glycogen
32
2
12603528 (1), 14687479 (1)
Search CenterWatch for drugs/clinical trials and news about TCF4 / ITF2
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Transcriptsfor TCF4 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for TCF4 gene (12 alternative transcripts): NM_001083962.1 NM_001243226.1 NM_001243227.1 NM_001243228.1 NM_001243230.1 NM_001243231.1 NM_001243232.1 NM_001243233.1 NM_001243234.1 NM_001243235.1 NM_001243236.1 NM_003199.2 Unigene Cluster for TCF4:
Transcription factor 4 Hs.605153 [show with all ESTs ] Unigene Representative Sequence: NM_001083962 18/48 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 48 ): ENST00000356073 ENST00000568673 ENST00000457482 ENST00000543082 ENST00000540999 ENST00000537578 ENST00000564999 ENST00000568740 ENST00000562680 ENST00000537856 ENST00000544241 ENST00000561992 ENST00000561831 ENST00000565018 ENST00000570287 ENST00000564228 ENST00000567880 ENST00000566286 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for TCF4 (see all 6 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for TCF4 (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): TCF4 (NM_001083962 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TCF4 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat TCF4
Additional cDNA sequence: AB209741.1 AK021980.1 AK026674.1 AK095041.1 AK095066.1 AK096862.1 AK122765.1 AK299169.1 AK300038.1 AK300612.1 AK300636.1 AK301144.1 AK315074.1 AK316165.1 BC031056.1 BC125084.1 BC125085.1 FR748202.1 FR748203.1 FR748205.1 FR748207.1 FR748208.1 FR748209.1 FR748210.1 FR748211.1 FR748212.1 FR748213.1 FR748214.1 FR748215.1 FR748216.1 FR748217.1 FR748218.1 FR748219.1 FR748220.1 FR748221.1 FR748222.1 FR748223.1 M74718.1 M74719.1 M74720.1 X52079.1
24/47 DOTS entries (see all 47 ): DT.448128 DT.86840324
DT.100892351 DT.100806486 DT.121101533 DT.100892349 DT.95169893 DT.100808993 DT.441773 DT.95292982 DT.121101581 DT.95169897 DT.121101588 DT.87079130 DT.100789378 DT.75148455 DT.75182387 DT.100892345 DT.100789379 DT.100753719 DT.75169556 DT.100892346 DT.40115779 DT.92447456 24/512 AceView cDNA sequences (see all 512 ):
AA287187 T55908 AI291882 AI784460 AI431709 BM661935 AI003998 AA865756 AI097389 AI492030 AA861728 CD672923 AA232583 AU122270 BE795544 D61472 BU069915 BF057715 AA669136 BX420631 AA287097 BM800432 AI174523 AU120247 GeneLoc Exon Structure 5/13 Alternative Splicing Database (ASD) splice patterns (SP) for TCF4 (see all 13 ) About this scheme ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22a · SP1 :           -       -     -   -   -       -                 -       SP2 :           -       -     -   -   -       -                 -       SP3 :                 -     -   -   -       -                 -       SP4 :                     -   -   -       -                 -       SP5 :                                               -      
ExUns: 22b ^ 23 ^ 24a · 24b · 24c ^ 25a · 25b ^ 26 ^ 27a · 27b SP1 :         -   -           SP2 :           -           SP3 :         -   -           SP4 :           -           SP5 :                    
ECgene alternative splicing isoforms for TCF4
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Expression for TCF4 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section TCF4 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GGACAGATGT
About this image TCF4 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See TCF4 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for TCF4 SOURCE GeneReport for Unigene cluster: Hs.605153 UniProtKB/Swiss-Prot: ITF2_HUMAN, P15884 Tissue specificity : Expressed in adult heart, brain, placenta, skeletal muscle and to a lesser extent in the lung. Indeveloping embryonic tissues, expression mostly occurs in the brain SABiosciences Expression via Pathway-Focused PCR Arrays including TCF4 : Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for TCF4Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat TCF4 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat TCF4 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat TCF4 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCF4
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Orthologsfor TCF4 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for TCF4 gene from 5/19 species (see all 19 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
lizard (Anolis carolinensis)
Reptilia
TCF46 --
--
95(a) 72(a)
1 ↔ 1possible ortholog
GL343213.1(526409-578219) AAWZ02036688(11541-14447)
African clawed frog (Xenopus laevis)
Amphibia
CF342043.12
--
80.67(n)
 
CF342043.1
zebrafish (Danio rerio)
Actinopterygii
CABZ01109624.16 tcf46
transcription factor 4
78(a) 73(a)
possible ortholog1 ↔ 1
21(1794705-1800202) 21(1602919-1689003)
fruit fly (Drosophila melanogaster)
Insecta
da3
oogenesis transcription factor
78(a)
 
--
worm (Caenorhabditis elegans)
Secernentea
hlh-26
Helix Loop Helix family member (hlh-2)
25(a)
1 → many
I(7190846-7193914)
ENSEMBL Gene Tree for TCF4 (if available)TreeFam Gene Tree for TCF4 (if available)
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Paralogsfor TCF4 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for TCF4 gene TCF12 2 TCF3 2 18/69 SIMAP similar genes for TCF4 using alignment to 34 protein entries: ITF2_HUMAN (see all proteins )
(see all similar genes ):EML2 HOOK2 VPS33A CRCP NXPE2 DCTN5 DNAPTP3 TCF12 SH3PXD2A ZNF212 C4orf21 LAMB4 ZNF283 ZNF527 PLEKHH2 APOPT1 BTBD2 ERBB2
TCF4 for paralogs About GeneDecksing
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Genomic Variantsfor TCF4 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 18 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for TCF4 (52889562 - 53139562 bp, first 250kb of TCF4)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 3 variations for TCF4 3 CNVs : 102673 1980 102672 Human Gene Mutation Database (HGMD) : TCF4 Locus Specific Mutation Databases (LSDB): TCF4 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing TCF4
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Disorders
/ Diseasesfor TCF4 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
TCF4 for disorders About GeneDecksing OMIM gene information: 602272 OMIM disorders : 610954 UniProtKB/Swiss-Prot: ITF2_HUMAN, P15884
Defects in TCF4 are a cause of Pitt-Hopkins syndrome (PTHS) [MIM:610954]. PTHS is a rare syndromic encephalopathy characterized by severe psychomotor delay, epilepsy, daily bouts of diurnal hyperventilation starting in infancy, mild postnatal growth retardation, postnatal microcephaly, and distinctive facial features. Since most hitherto reported cases have been sporadic, with males and females equally affected, PTHS is regarded as an autosomal dominant condition 20/47 diseases for TCF4 (see all 47 ): About MalaCards pitt-hopkins syndrome fuchs' endothelial dystrophy familial adenomatous polyposis adenomatous polyposis coli autonomic dysfunction corneal dystrophy esophageal squamous cell carcinoma squamous cell carcinoma polyposis endometrial carcinoma tauopathy renal cell carcinoma bipolar disorder pituitary tumor hepatocellular carcinoma carcinoma colon cancer gastric cancer microcephaly colorectal cancer 1 disease from the University of Copenhagen DISEASES database for TCF4 :Fuchs' endothelial dystrophy 10/14 Novoseek disease relationships for TCF4 gene (see all 14 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
familial adenomatous polyposis
70.8
3
12460462 (1), 11396184 (1), 15342948 (1)
colon cancer
52.9
2
15667799 (1), 17167838 (1)
endometrial carcinoma
43
4
18798221 (2), 15806138 (1), 10597289 (1)
colorectal cancer
40.8
2
18439914 (1), 19376641 (1)
colorectal tumors
28.8
1
10597289 (1)
gastric cancer
27.9
13
18635522 (5), 16311123 (2), 10597289 (1)
cancer
24.7
1
15667799 (1)
hepatocellular carcinoma
21.6
6
14687479 (2), 15040893 (2), 12566320 (1)
microsatellite instability
20.9
1
10597289 (1)
tumors
14.9
16
15667799 (3), 16311123 (2), 10918391 (2), 18635522 (2) (see all 5 )
Human Genome Epidemiology (HuGE) Navigator: TCF4 (251 documents) Export disorders for TCF4 gene to outside databases
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Publicationsfor TCF4 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for TCF4 gene, integrated from 9 sources (see all 212 ): (articles sorted by number of sources associating them with TCF4) Utopia : connect your pdf to the dynamic world of online information
A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1. (PubMed id 9302263) 1 , 2 , 3 Breschel T.S.... Ross C.A. (1997) Sequence of the cDNA encoding ITF-2, a positive-acting transcription factor. (PubMed id 2308860) 1 , 2 , 3 Henthorn P.... Kadesch T. (1990) Helix-loop-helix transcriptional activators bind to a sequence in glucocorticoid response elements of retrovirus enhancers. (PubMed id 1681116) 1 , 2 , 9 Corneliussen B.... Grundstroem T. (1991) Functional diversity of human basic helix-loop-helix transcription factor TCF4 isoforms generated by alternative 5' exon usage and s plicing. (PubMed id 21789225) 1 , 2 Sepp M....Timmusk T. (2011) Novel comprehensive diagnostic strategy in pitt-hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum. (PubMed id 22045651) 1 , 2 Whalen S.... Giurgea I. (2011) Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. (PubMed id 19235238) 1 , 2 de Pontual L.... Amiel J. (2009) Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. (PubMed id 17436254) 1 , 2 Amiel J.... Colleaux L. (2007) Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). (PubMed id 17436255) 1 , 2 Zweier C.... Rauch A. (2007) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 , 2 Ota T.... Sugano S. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 1 , 2 Gerhard D.S....Malek J. (2004)
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External Searches for TCF4 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing TCF4 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing TCF4 gene
(According to HUGE )
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Specialized Databases showing TCF4 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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About This Section Patent Information for TCF4 gene: Search GeneIP for patents involving TCF4 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor TCF4 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
Browse OriGene Antibodies OriGene shRNA RFP for TCF4 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for TCF4 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for TCF4 OriGene Protein Over-expression Lysate for TCF4 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for TCF4 OriGene 3'-UTR Clone for TCF4 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for TCF4 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for TCF4 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs OriGene Purified Protein for TCF4 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for TCF4 OriGene Custom Protein Services for TCF4 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TCF4 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing TCF4 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat TCF4 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat TCF4 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat TCF4 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat TCF4
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TCF4 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCF4
ThermoFisher Antibodies for TCF4
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat TCF4
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