Aliases for TCF4 Gene
Aliases for TCF4 Gene
External Ids for TCF4 Gene
- HGNC: 11634
- Entrez Gene: 6925
- Ensembl: ENSG00000196628
- OMIM: 602272
- UniProtKB: P15884
Previous GeneCards Identifiers for TCF4 Gene
- GC18M052983
- GC18M052797
- GC18M052679
- GC18M051043
- GC18M051045
- GC18M052889
- GC18M049599
Summaries for TCF4 Gene
-
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. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016]
GeneCards Summary for TCF4 Gene
TCF4 (Transcription Factor 4) is a Protein Coding gene. Diseases associated with TCF4 include Pitt-Hopkins Syndrome and Corneal Dystrophy, Fuchs Endothelial, 3. Among its related pathways are Mesodermal Commitment Pathway and Non-Canonical Wnt Pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is TCF12.
UniProtKB/Swiss-Prot for TCF4 Gene
-
Transcription factor that binds to the immunoglobulin enchancer 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TCF4 Gene
Genomics for TCF4 Gene
Regulatory Elements for TCF4 Gene
Enhancers for TCF4 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH18G055584 | 1.6 | Ensembl ENCODE dbSUPER | 11.7 | +77.1 | 77096 | 5.8 | PKNOX1 CREB3L1 SIN3A ZNF2 YY1 ZNF766 ZNF143 KLF13 ZNF263 SP3 | RPL21P126 TCF4 LINC01929 LINC01415 GC18P055590 GC18M055559 |
| GH18G055731 | 1.2 | Ensembl ENCODE | 11.5 | -67.6 | -67619 | 1.2 | ATF1 CREB3L1 ARNT TCF12 GATA2 FOS NCOA1 JUNB REST CREB3 | TCF4 RPL21P126 ENSG00000267284 LINC01415 |
| GH18G055592 | 0.9 | ENCODE | 11.7 | +71.9 | 71923 | 0.2 | HDAC1 PKNOX1 TBL1XR1 NFRKB TCF12 ELK1 GATA2 CEBPB NCOA1 ZNF592 | RPL21P126 TCF4 LOC105372126 |
| GH18G055581 | 0.8 | ENCODE dbSUPER | 11.6 | +82.2 | 82225 | 1.7 | PRDM6 ZBTB48 TEAD4 PRDM10 CHD7 ZBTB40 PRDM1 | RPL21P126 TCF4 GC18P055590 GC18M055559 |
| GH18G055735 | 0.7 | ENCODE | 11.4 | -70.6 | -70578 | 0.2 | HDAC1 LEF1 PKNOX1 TBL1XR1 TAL1 TCF12 FOXK2 NCOR1 MTA2 RNF2 | TCF4 RPL21P126 ENSG00000267284 LINC01415 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around TCF4 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the TCF4 gene promoter:
Regulatory Element Products
Genomic Location for TCF4 Gene
- Chromosome:
- 18
- Start:
- 55,222,331 bp from pter
- End:
- 55,664,787 bp from pter
- Size:
- 442,457 bases
- Orientation:
- Minus strand
Genomic View for TCF4 Gene
Genes around TCF4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 18q21.2 by Ensembl
- 18q21.2 by Entrez Gene
- 18q21.2 by HGNC
TCF4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TCF4 Gene
Proteins for TCF4 Gene
-
Protein details for TCF4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P15884-ITF2_HUMAN
- Recommended name:
- Transcription factor 4
- Protein Accession:
- P15884
- B3KT62
- B3KUC0
- B4DT37
- B4DUG3
- B7Z5M6
- B7Z6Y1
- G0LNT9
- G0LNU0
- G0LNU1
- G0LNU2
- G0LNU4
- G0LNU5
- G0LNU8
- G0LNU9
- G0LNV0
- G0LNV1
- G0LNV2
- H3BPQ1
- Q08AP2
- Q08AP3
- Q15439
- Q15440
- Q15441
Protein attributes for TCF4 Gene
- Size:
- 667 amino acids
- Molecular mass:
- 71308 Da
- Quaternary structure:
-
- Efficient DNA binding requires dimerization with another bHLH protein. Forms homo- or heterooligomers with myogenin. Interacts with HIVEP2. Interacts with NEUROD2 (By similarity). Interacts with AGBL1. Interacts with BHLHA9.
- SequenceCaution:
-
- Sequence=AAA60310.1; Type=Miscellaneous discrepancy; Note=Incomplete and probable erroneous sequence.; Evidence={ECO:0000305}; Sequence=AAA60312.1; Type=Miscellaneous discrepancy; Note=Incomplete and probable erroneous sequence.; Evidence={ECO:0000305};
Protein Expression for TCF4 Gene
Post-translational modifications for TCF4 Gene
Other Protein References for TCF4 Gene
- ENSEMBL proteins:
-
- ENSP00000348374
- ENSP00000381382
- ENSP00000409447
- ENSP00000439656
- ENSP00000439827
- ENSP00000440731
- ENSP00000441562
- ENSP00000445202
- ENSP00000454328
- ENSP00000454352
- ENSP00000454366
- ENSP00000454441
- ENSP00000454584
- ENSP00000454647
- ENSP00000454866
- ENSP00000455071
- ENSP00000455135
- ENSP00000455163
- ENSP00000455179
- ENSP00000455261
- ENSP00000455304
- ENSP00000455346
- ENSP00000455418
- ENSP00000455450
- ENSP00000455763
- ENSP00000455984
- ENSP00000456125
- ENSP00000456220
- ENSP00000456802
- ENSP00000456983
- ENSP00000457082
- ENSP00000457113
- ENSP00000457245
- ENSP00000457263
- ENSP00000457392
- ENSP00000457649
- ENSP00000457747
- ENSP00000457765
- ENSP00000458122
- ENSP00000468277
- ENSP00000468729
- ENSP00000478549
- ENSP00000485755
- ENSP00000486072
- ENSP00000486111
- ENSP00000486148
- ENSP00000486215
- ENSP00000486405
- ENSP00000486670
- ENSP00000486909
- ENSP00000486974
- ENSP00000487010
- ENSP00000487134
- ENSP00000487150
- ENSP00000487171
- ENSP00000487218
- ENSP00000487413
- ENSP00000487415
- ENSP00000487419
- ENSP00000487505
- ENSP00000487557
- ENSP00000489783
- ENSP00000489916
- ENSP00000490006
- ENSP00000490234
- ENSP00000490329
- ENSP00000490451
- ENSP00000490625
- ENSP00000490832
- ENSP00000490883
- ENSP00000346440
- REFSEQ proteins:
-
- NP_001077431.1
- NP_001230155.2
- 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_001293136.1
- NP_001293137.1
- NP_001317533.1
- NP_001317534.1
- NP_001335140.1
- NP_001335141.1
- NP_001335142.1
- NP_001335143.1
- NP_001335144.1
- NP_001335145.1
- NP_001335146.1
- NP_001335147.1
- NP_001335148.1
- NP_001335149.1
- NP_003190.1
- XP_005266796.2
- XP_005266798.1
- XP_005266800.1
- XP_005266801.1
- XP_005266802.1
- XP_005266804.1
- XP_005266806.1
- XP_005266809.1
- XP_005266811.1
- XP_005266812.1
- XP_005266818.1
- XP_006722599.1
- XP_006722600.1
- XP_006722601.1
- XP_011524460.1
- XP_011524462.1
- XP_016881423.1
- XP_016881424.1
- XP_016881425.1
- XP_016881426.1
- XP_016881427.1
- XP_016881428.1
- XP_016881429.1
- XP_016881430.1
- XP_016881431.1
- XP_016881432.1
- XP_016881433.1
- XP_016881434.1
- XP_016881435.1
- XP_016881436.1
- XP_016881437.1
- XP_016881438.1
- XP_016881439.1
- XP_016881440.1
- XP_016881441.1
- XP_016881442.1
- XP_016881443.1
- XP_016881444.1
- XP_016881445.1
- XP_016881446.1
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for TCF4
-
Custom Antibody ServicesOriGene Antibodies for TCF4
- Novus Biologicals Antibodies for TCF4
-
Abcam antibodies for TCF4
- Invitrogen Antibodies for TCF4
- antibodies-online Antibodies for TCF4: See all 81
- GeneTex TCF4 antibody for TCF4
-
Santa Cruz Biotechnology (SCBT) Antibodies for TCF4
Protein Products
-
OriGene Purified Proteins for TCF4
- Search Origene for MassSpec and Protein Over-expression Lysates for TCF4
- Origene Custom Protein Services for TCF4
- ProSpec Recombinant Proteins for TCF4
- antibodies-online Proteins for TCF4: See all 10
- Search antibodies-online for peptides
- Search GeneTex for Proteins for TCF4
-
Abcam proteins for TCF4
Assay Products
- antibodies-online Kits for TCF4: See all 8
No data available for DME Specific Peptides for TCF4 Gene
Domains & Families for TCF4 Gene
Gene Families for TCF4 Gene
Protein Domains for TCF4 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for TCF4 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ37722 fis, clone BRHIP2019186, highly similar to TRANSCRIPTION FACTOR 4 (B3KT62_HUMAN)
- cDNA FLJ39543 fis, clone PUAEN2008939, highly similar to TRANSCRIPTION FACTOR 4 (B3KUC0_HUMAN)
- cDNA, FLJ79064, highly similar to Transcription factor 4 (B4DUG3_HUMAN)
- cDNA FLJ58684, highly similar to Transcription factor 4 (B7Z5M6_HUMAN)
- cDNA FLJ58695, highly similar to Transcription factor 4 (B7Z6Y1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P15884UniProtKB/Swiss-Prot:
ITF2_HUMAN :- the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
- Domain:
-
- the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
Function for TCF4 Gene
Molecular function for TCF4 Gene
- GENATLAS Biochemistry:
- transcription factor 4,with several alternatively spliced isoforms
- UniProtKB/Swiss-Prot Function:
- Transcription factor that binds to the immunoglobulin enchancer 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.
| 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 | transcription factor activity, sequence-specific DNA binding, RNA polymerase recruiting | ISS | 8978694 |
| GO:0001077 | transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding | ISS | 8978694 |
| GO:0001087 | transcription factor activity, TFIIB-class binding | ISS | 8978694 |
| GO:0001093 | TFIIB-class transcription factor binding | ISS | 8978694 |
Phenotypes for TCF4 Gene
- MGI mutant phenotypes for TCF4:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for TCF4:
-
- Increased vaccinia virus (VACV) infection
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Wnt reporter downregulated
- Decreased shRNA abundance
- Increased cell death HMECs cells
- Increased viability with TRAIL
Animal Models for TCF4 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for TCF4 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for TCF4 gene
- Search ViGene Biosciences for TCF4
CRISPR Products
-
OriGene CRISPR knockouts for TCF4
-
Santa Cruz Biotechnology (SCBT) CRISPR for TCF4
- GenScript: Design CRISPR guide RNA sequences for TCF4
miRNA for TCF4 Gene
- miRTarBase miRNAs that target TCF4
-
- hsa-mir-204-5p (MIRT005846)
- hsa-mir-130b-3p (MIRT020336)
- hsa-mir-19b-3p (MIRT031229)
- hsa-let-7e-5p (MIRT051694)
- hsa-mir-203a-3p (MIRT053443)
- hsa-mir-452-5p (MIRT437782)
- hsa-mir-126-3p (MIRT438192)
- hsa-mir-20a-5p (MIRT439478)
- hsa-mir-106b-5p (MIRT439479)
- hsa-mir-155-5p (MIRT439480)
- hsa-mir-519d-3p (MIRT726342)
- hsa-mir-93-5p (MIRT726343)
- hsa-mir-20b-5p (MIRT726344)
- hsa-mir-17-5p (MIRT726345)
Transcription Factor Targets for TCF4 Gene
miRNA Products
- Search ViGene Biosciences for TCF4
Inhibitory RNA Products
- Origene RNAi, shRNA, and siRNA products in human, mouse, rat for TCF4
- Browse OriGene Inhibitory RNA Products For TCF4
-
ViGene Biosciences ready-to-package AAV shRNAs for TCF4 gene
Clone Products
-
GenScript: Next-day shipping cDNA ORF clone for TCF4 in any vector
- XM_011526154
- XM_011526155
- XM_011526156
- XM_011526157
- XM_005266739
- XM_006722536
- XM_006722537
- XM_005266741
- XM_011526158
- NM_001243226
- NM_001306208
- NM_001243235
- NM_001243236
- NM_001243231
- NM_001083962
- NM_001243227
- NM_001243232
- NM_001306207
- NM_001243234
- NM_003199
- NM_001243230
- NM_001243233
- NM_001243228
- XM_005266761
- XM_006722540
- XM_011526164
- XM_011526163
- XM_011526162
- XM_006722539
- XM_011526161
- XM_011526160
- XM_005266755
- XM_005266754
- XM_011526159
- XM_005266752
- XM_005266749
- XM_005266747
- XM_005266745
- XM_006722538
- XM_005266744
- XM_005266743
- Sino Biological Human cDNA Clone for TCF4
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for TCF4
Cell Line Products
-
Horizon Cell Lines for TCF4
-
ViGene Biosciences adenoviral particle packaged cDNA for TCF4 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for TCF4 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for TCF4 gene
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA6-11201) for TCF4
No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for TCF4 Gene
Localization for TCF4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TCF4 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytoskeleton | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | IDA | 21880741 |
| GO:0005634 | nucleus | IDA,IEA | 1681116 |
| GO:0005667 | transcription factor complex | ISS | 8978694 |
| GO:0032993 | protein-DNA complex | IDA | 12651860 |
Pathways & Interactions for TCF4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | ERK Signaling |
.58
|
.49
|
| 2 | Human Embryonic Stem Cell Pluripotency | ||
| 3 | CDO in myogenesis |
1.00
|
1.00
|
| 4 | Mesodermal Commitment Pathway | ||
| 5 | CDK-mediated phosphorylation and removal of Cdc6 | ||
Pathways by source for TCF4 Gene
2 Sino Biological pathways for TCF4 Gene
3 Reactome pathways for TCF4 Gene
Interacting Proteins for TCF4 Gene
Selected Interacting proteins:
P15884-ITF2_HUMAN
ENSP00000346440
for TCF4 Gene via
MINT
STRING
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006352 | DNA-templated transcription, initiation | ISS | 8978694 |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006367 | transcription initiation from RNA polymerase II promoter | ISS | 8978694 |
| GO:0007399 | nervous system development | IEA | -- |
Transcripts for TCF4 Gene
mRNA/cDNA for TCF4 Gene
- (66) REFSEQ mRNAs :
- (41) Additional mRNA sequences :
- (512) Selected AceView cDNA sequences:
- (90) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for TCF4 Gene
- Transcription factor 4:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for TCF4
-
Santa Cruz Biotechnology (SCBT) CRISPR for TCF4
- GenScript: Design CRISPR guide RNA sequences for TCF4
miRNA Products
- Search ViGene Biosciences for TCF4
Inhibitory RNA Products
- Origene RNAi, shRNA, and siRNA products in human, mouse, rat for TCF4
- Browse OriGene Inhibitory RNA Products For TCF4
-
ViGene Biosciences ready-to-package AAV shRNAs for TCF4 gene
Clone Products
-
GenScript: Next-day shipping cDNA ORF clone for TCF4 in any vector
- XM_011526154
- XM_011526155
- XM_011526156
- XM_011526157
- XM_005266739
- XM_006722536
- XM_006722537
- XM_005266741
- XM_011526158
- NM_001243226
- NM_001306208
- NM_001243235
- NM_001243236
- NM_001243231
- NM_001083962
- NM_001243227
- NM_001243232
- NM_001306207
- NM_001243234
- NM_003199
- NM_001243230
- NM_001243233
- NM_001243228
- XM_005266761
- XM_006722540
- XM_011526164
- XM_011526163
- XM_011526162
- XM_006722539
- XM_011526161
- XM_011526160
- XM_005266755
- XM_005266754
- XM_011526159
- XM_005266752
- XM_005266749
- XM_005266747
- XM_005266745
- XM_006722538
- XM_005266744
- XM_005266743
- Sino Biological Human cDNA Clone for TCF4
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for TCF4
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA6-11201) for TCF4
| 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: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: |
| ExUns: | 22b | ^ | 23 | ^ | 24a | · | 24b | · | 24c | ^ | 25a | · | 25b | ^ | 26 | ^ | 27a | · | 27b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||
| SP2: | - | ||||||||||||||||||
| SP3: | - | - | |||||||||||||||||
| SP4: | - | ||||||||||||||||||
| SP5: | |||||||||||||||||||
| SP6: | |||||||||||||||||||
| SP7: | |||||||||||||||||||
| SP8: | |||||||||||||||||||
| SP9: | |||||||||||||||||||
| SP10: | |||||||||||||||||||
| SP11: | |||||||||||||||||||
| SP12: | |||||||||||||||||||
| SP13: |
Expression for TCF4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Blood (Hematopoietic System)
- pre Conventional Dendritic Cells Peripheral Blood
- Plasmacytoid Dendritic cells Peripheral Blood
- Mature B-Cells Peripheral Blood
- Peripheral blood-derived hematopoietic stem cells (family)
- Peripheral blood-derived hematopoietic stem cells
-
Eye (Sensory Organs)
- Glycinergic Amacrine Cells Inner Nuclear Layer
- nGnG Amacrine Cells Inner Nuclear Layer
- Limbal Basal Epithelial Cells Limbus Epithelium
- AII Amacrine Cells Inner Nuclear Layer
- Neural Tube (Nervous System)
-
Neurons
- Glycinergic Amacrine Cells Inner Nuclear Layer
- nGnG Amacrine Cells Inner Nuclear Layer
- AII Amacrine Cells Inner Nuclear Layer
-
Dermis (Integumentary System)
- Dermal Mesenchyme Cells Ventral Subectodermal Mesenchyme
-
Epithelial Cells
- Limbal Basal Epithelial Cells Limbus Epithelium
-
Head Mesenchyme (Muscoskeletal System)
- Cranial Tendons Cells Branchial Arch 1
-
Tendon amp Ligament
- Cranial Tendons Cells Branchial Arch 1
-
Limb (Muscoskeletal System)
- Limb Bud Mesenchyme Cells Limb Bud
-
Mesoderm (Gastrulation Derivatives)
- Limb Bud Mesenchyme Cells Limb Bud
- Epidermis (Integumentary System)
- Hair
-
Bone (Muscoskeletal System)
This gene is overexpressed in NK cells (59.0) and Blymphocyte (6.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TCF4 Gene
NURSA nuclear receptor signaling pathways regulating expression of TCF4 Gene:
TCF4SOURCE GeneReport for Unigene cluster for TCF4 Gene:
Hs.605153mRNA Expression by UniProt/SwissProt for TCF4 Gene:
P15884-ITF2_HUMAN
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.
Evidence on tissue expression from TISSUES for TCF4 Gene
- Nervous system(5)
- Bone(4.9)
- Spleen(4.5)
- Blood(4.4)
- Skin(4.4)
- Lung(3.5)
- Kidney(2.7)
- Eye(2.6)
- Lymph node(2.3)
- Muscle(2.3)
- Heart(2.2)
- Intestine(2.2)
- Thyroid gland(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TCF4 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Organs:
Head and neck:
- brain
- cerebellum
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- neck
- nose
- outer ear
- pharynx
- skull
- tooth
Thorax:
- chest wall
- diaphragm
- esophagus
- heart
- lung
Abdomen:
- abdominal wall
- biliary tract
- gallbladder
- intestine
- kidney
- large intestine
- liver
- pancreas
- stomach
Pelvis:
- penis
- rectum
- testicle
- ureter
- urinary bladder
Limb:
- digit
- finger
- foot
- hand
- lower limb
- nail
- toe
- upper limb
General:
- blood
- blood vessel
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for TCF4
No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for TCF4 Gene
Orthologs for TCF4 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TCF4 35 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | TCF7L2 35 |
|
OneToOne | |
| TCF4 34 |
|
||||
| oppossum (Monodelphis domestica) |
Mammalia | TCF4 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | TCF4 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | TCF4 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Tcf4 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Tcf4 34 |
|
||
| chicken (Gallus gallus) |
Aves | TCF4 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | TCF4 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tcf4 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | CABZ01109624.1 35 |
|
OneToMany | |
| tcf4 35 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | da 36 35 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | hlh-2 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for TCF4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for TCF4 Gene
(85) SIMAP similar genes for TCF4 Gene using alignment to 31 proteins:
- ITF2_HUMAN
- E9PH57_HUMAN
- G0LNT1_HUMAN
- G0LNT2_HUMAN
- G0LNT3_HUMAN
- G0LNT4_HUMAN
- G0LNT5_HUMAN
- G0LNT6_HUMAN
- G0LNT7_HUMAN
- G0LNT8_HUMAN
- G0LNU4_HUMAN
- G0LNV2_HUMAN
- H3BMC8_HUMAN
- H3BME8_HUMAN
- H3BML7_HUMAN
- H3BNI2_HUMAN
- H3BNZ2_HUMAN
- H3BP59_HUMAN
- H3BPG3_HUMAN
- H3BPJ7_HUMAN
- H3BRF7_HUMAN
- H3BSX3_HUMAN
- H3BT24_HUMAN
- H3BT95_HUMAN
- H3BTC3_HUMAN
- H3BTM9_HUMAN
- H3BTP3_HUMAN
- H3BTZ0_HUMAN
- H3BUQ3_HUMAN
- K7ERJ0_HUMAN
- K7ESI6_HUMAN
- EML2
- HOOK2
- VPS33A
- ZNF814
- CRCP
- ZNF546
- DCTN5
- DNAPTP3
- TCF12
- UBIAD1
- SH3PXD2A
- ZNF212
- C4orf21
- ZNF527
- ZNF283
- LAMB4
- PLEKHH2
- TMEM14B
- PHC3
- ERBB2
- BTBD2
- APOPT1
- LYRM4
- ZNF738
- ZNF585B
- EDRF1
- ATP6V0A1
- RBMS2
- HKR1
- FAM129C
- NRAMP1
- ATR
- ZNF611
- NPLOC4
- ZNF547
- ZNF737
- ZNF100
- TNFRSF17
- MPP4
- FKBP3
- FAM210A
- DNMT1
- SPATS2L
- FAM175A
- ZNF564
- NSRP1
- ZNF763
- ZNF675
- TIMM23B
- MEFV
- CLUL1
- AEBP2
- USP10
- AURA2
- SNX31
- PKN1
- DAPL1
- RNF217
- ZNF468
- TCF3
- ZNF20
- SPAG11B
- SPAG11A
- NUP88
- SHANK2
- NF2
- ZNF28
- APOD
- MVK
- ZNF461
- BECN1
- ZNF816
- CHID1
- GLT8D2
- KDM5B
- ZNF195
- ASB11
- ZNF83
- WARS
- CATSPERG
- GCDH
- LEPROTL1
- FAT3
- C2CD4A
- RBBP4
Variants for TCF4 Gene
| SNP ID | Clin | Chr 18 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs121909120 | Pathogenic, Pitt-Hopkins syndrome (PTHS) [MIM:610954] | 55,228,988(-) | GTCTG(C/T)GGGTC | reference, missense | |
| rs121909121 | Pathogenic, Pitt-Hopkins syndrome (PTHS) [MIM:610954] | 55,228,987(-) | TCTGC(A/G)GGTCC | reference, missense | |
| rs121909123 | Pathogenic, Pitt-Hopkins syndrome (PTHS) [MIM:610954], Pitt-Hopkins syndrome (PTHS) [MIM:610954] | 55,228,993(-) | AGAGC(A/C/G)TCTGC | reference, missense | |
| VAR_058632 | Pitt-Hopkins syndrome (PTHS) [MIM:610954] | ||||
| VAR_058633 | Pitt-Hopkins syndrome (PTHS) [MIM:610954] |
Residual Variation Intolerance Score:
13.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.67;
14.20% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for TCF4 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCF4 Gene
Disorders for TCF4 Gene
(11) MalaCards diseases for TCF4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pitt-hopkins syndrome |
|
|
| corneal dystrophy, fuchs endothelial, 3 |
|
|
| fuchs' endothelial dystrophy |
|
|
| autosomal dominant non-syndromic intellectual disability |
|
|
| cholangitis, primary sclerosing |
|
|
Search TCF4 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ITF2_HUMAN- 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 mutations 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}.
- Pitt-Hopkins syndrome (PTHS) [MIM:610954]: A syndrome characterized by mental retardation, 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for TCF4
No data available for Genatlas for TCF4 Gene
Publications for TCF4 Gene
- Common variants conferring risk of schizophrenia. (PMID: 19571808) Stefansson H. … Collier D.A. (Nature 2009) 3 22 46 64
- A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1. (PMID: 9302263) Breschel T.S. … Ross C.A. (Hum. Mol. Genet. 1997) 2 3 4 64
- Helix-loop-helix transcriptional activators bind to a sequence in glucocorticoid response elements of retrovirus enhancers. (PMID: 1681116) Corneliussen B. … Grundstroem T. (J. Virol. 1991) 3 4 22 64
- Sequence of the cDNA encoding ITF-2, a positive-acting transcription factor. (PMID: 2308860) Henthorn P. … Kadesch T. (Nucleic Acids Res. 1990) 2 3 4 64
- Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type. (PMID: 25466284) Malik S. … Grzeschik K.H. (Am. J. Hum. Genet. 2014) 3 4 64
Products for TCF4 Gene
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- NM_001083962
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- NM_001243235
- NM_001306208
- NM_001243226
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- ProSpec Recombinant Proteins for TCF4
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- antibodies-online Antibodies for TCF4: See all 81
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- GeneTex TCF4 antibody for TCF4
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- ViGene Biosciences adenoviral particle packaged cDNA for TCF4 gene
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- ViGene Biosciences ready-to-package AAV shRNAs for TCF4 gene
- Search ViGene Biosciences for TCF4
- Santa Cruz Biotechnology (SCBT) Antibodies for TCF4
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- Santa Cruz Biotechnology (SCBT) CRISPR for TCF4
- Horizon Cell Lines for TCF4
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- VectorBuilder custom plasmid, inducible vectors for TCF4
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for TCF4 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
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- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
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- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
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