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This gene encodes a zinc finger transcription factor. The encoded protein likely plays a role in transcriptional repression of interleukin 2. Mutations in this gene have been associated with posterior polymorphous corneal dystrophy-3 and late-onset Fuchs endothelial corneal dystrophy. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2010]
ZEB1 (Zinc Finger E-Box Binding Homeobox 1) is a Protein Coding gene. Diseases associated with ZEB1 include Corneal Dystrophy, Posterior Polymorphous, 3 and Corneal Dystrophy, Fuchs Endothelial, 6. Among its related pathways are Transcriptional misregulation in cancer and Interleukin-4 and 13 signaling. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and chromatin binding. An important paralog of this gene is ZEB2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IEA,IDA | 23765923 |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003682 | chromatin binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IDA | 20418909 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005829 | cytosol | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Human Embryonic Stem Cell Pluripotency |
Factors Promoting Cardiogenesis in Vertebrates
.50
|
Human Embryonic Stem Cell Pluripotency
.50
|
2 | ERK Signaling |
MAPK Signaling
.58
|
ILK Signaling
.49
|
3 | Cytokine Signaling in Immune system | ||
4 | Wnt / Hedgehog / Notch | ||
5 | MicroRNAs in cancer |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA,IDA | 23765923 |
GO:0006357 | regulation of transcription by RNA polymerase II | TAS | 8138542 |
GO:0007389 | pattern specification process | IEA | -- |
GO:0007399 | nervous system development | IEA | -- |
GO:0007417 | central nervous system development | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Zinc | Approved, Investigational | Pharma | 1594 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | |||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ZEB1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ZEB1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ZEB1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Zeb1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ZEB1 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Zeb1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | ZEB1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ZEB1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ZEB1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | zeb1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zeb1b 30 31 |
|
OneToMany | |
zeb1a 31 |
|
OneToMany | |||
zfhx1 30 |
|
||||
Worm (Caenorhabditis elegans) |
Secernentea | F58G1.2 31 |
|
ManyToMany | |
tra-4 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
12631 | Pathogenic: Posterior polymorphous corneal dystrophy 3 | 31,526,804(+) | CTG/C | FRAMESHIFT_VARIANT | |
709250 | Benign: not provided | 31,521,746(+) | T/C | MISSENSE_VARIANT | |
715018 | Likely Benign: not provided | 31,514,707(+) | T/C | SYNONYMOUS_VARIANT | |
715019 | Likely Benign: not provided | 31,521,309(+) | C/G | MISSENSE_VARIANT | |
715020 | Benign: not provided | 31,527,081(+) | AGAG/A | INFRAME_DELETION |
Disorder | Aliases | PubMed IDs |
---|---|---|
corneal dystrophy, posterior polymorphous, 3 |
|
|
corneal dystrophy, fuchs endothelial, 6 |
|
|
corneal dystrophy, posterior polymorphous, 1 |
|
|
corneal dystrophy |
|
|
intraocular pressure quantitative trait locus |
|
|