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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]
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 Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Neural Crest Differentiation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is TCF12.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | ISS | 8978694 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISS | 8978694 |
GO:0001093 | TFIIB-class transcription factor binding | ISS | 8978694 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | ISS | 8978694 |
GO:0003677 | DNA binding | IEA,IDA | 1681116 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | IDA,ISA | -- |
GO:0005634 | nucleus | IBA,IDA | 1681116 |
GO:0005667 | transcription factor complex | ISS | 8978694 |
GO:0070369 | beta-catenin-TCF7L2 complex | IDA | 12651860 |
GO:1990907 | beta-catenin-TCF complex | IPI | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | ERK Signaling |
MAPK Signaling
.58
Molecular Mechanisms of Cancer
.51
|
ILK Signaling
.49
|
2 | Human Embryonic Stem Cell Pluripotency |
Factors Promoting Cardiogenesis in Vertebrates
.50
|
Human Embryonic Stem Cell Pluripotency
.50
|
3 | Myogenesis |
1.00
|
1.00
|
4 | Mesodermal Commitment Pathway | ||
5 | Regulation of activated PAK-2p34 by proteasome mediated degradation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0006352 | DNA-templated transcription, initiation | ISS | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006367 | transcription initiation from RNA polymerase II promoter | ISS | -- |
GO:0007399 | nervous system development | IEA | -- |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TCF4 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TCF4 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TCF7L2 31 |
|
OneToOne | |
TCF4 30 |
|
||||
Platypus (Ornithorhynchus anatinus) |
Mammalia | TCF4 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TCF4 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tcf4 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tcf4 30 |
|
||
Chicken (Gallus gallus) |
Aves | TCF4 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TCF4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tcf4 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | CABZ01109624.1 31 |
|
OneToMany | |
tcf4 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | da 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | hlh-2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
641254 | Uncertain Significance: Pitt-Hopkins syndrome | 55,403,465(-) | C/A | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
647281 | Likely Pathogenic: Pitt-Hopkins syndrome | 55,279,657(-) | C/T | SPLICE_ACCEPTOR_VARIANT,SYNONYMOUS_VARIANT | |
652444 | Uncertain Significance: Pitt-Hopkins syndrome | 55,275,648(-) | A/G | MISSENSE_VARIANT | |
653383 | Likely Benign: Pitt-Hopkins syndrome | 55,350,927(-) | T/C | MISSENSE_VARIANT | |
656789 | Pathogenic: Pitt-Hopkins syndrome | 55,261,535(-) | T/C | SPLICE_ACCEPTOR_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
pitt-hopkins syndrome |
|
|
corneal dystrophy, fuchs endothelial, 3 |
|
|
fuchs' endothelial dystrophy |
|
|
epicanthus |
|
|
microcephaly |
|
|