ZEB2 Gene Summary [Human]
The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jan 2010]
Details
| Type | Protein Coding |
| Official Symbol | ZEB2 |
| Official Name | zinc finger E-box binding homeobox 2 [Source:HGNC Symbol;Acc:HGNC:14881] |
| Ensembl ID | ENSG00000169554 |
| Bio databases IDs | |
| Aliases | zinc finger E-box binding homeobox 2, SMAD interacting protein 1 |
| Synonyms | 9130203F04RIK, D130016B08RIK, HSPC082, LOC100128821, Sip, SIP-1, SMADIP1, ZFHX1B, Zfx1b, Zfxh1b, zinc finger E-box binding homeobox 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ZEB2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Zinc finger, C2H2 type
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- SMAD binding
- transcription regulator
- Drought induced 19 protein (Di19), zinc-binding
- nucleic acid binding
- smad binding domain
- protein binding
- sequence-specific DNA binding
- C2H2-type zinc finger
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- zinc finger
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- Zinc-finger double domain
- zinc finger domain
Pathways
Biological processes and signaling networks where the ZEB2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- precursor B-cell acute lymphoblastic leukemia
- breast cancer
- diabetes mellitus
- refractive error
- epithelial cancer
- Mowat-Wilson syndrome
- schizophrenia
- organismal death
- anaplastic thyroid carcinoma
role in cell
- expression in
- apoptosis
- activation in
- replication in
- growth
- migration
- number
- invasion
- phosphorylation in
- motility
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Plasma Membrane
- cytosol
- nucleoplasm
- nucleoli
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ZEB2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- anatomical structure development
- nervous system development
- positive regulation of canonical Wnt receptor signaling pathway
- endothelial cell migration
- positive regulation of melanocyte differentiation
- stress fiber assembly
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription from RNA polymerase II promoter
- positive regulation of melanin biosynthetic process
- developmental pigmentation
- astrocyte activation
- pyroptosis
- endothelial cell proliferation
- negative regulation of fibroblast migration
- fibroblast activation
- positive regulation of transforming growth factor beta receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytosol
- nucleolus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- phosphatase regulator activity
- protein binding
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity