SALL2 Gene Summary [Human]
This gene encodes a protein containing multiple zinc finger domains. The encoded protein functions in optical fissure closure during development of the eye in the embryo. Mutations in this gene are associated with ocular coloboma. [provided by RefSeq, Jul 2016]
Details
| Type | Protein Coding |
| Official Symbol | SALL2 |
| Official Name | spalt like transcription factor 2 [Source:HGNC Symbol;Acc:HGNC:10526] |
| Ensembl ID | ENSG00000165821 |
| Bio databases IDs | |
| Aliases | spalt like transcription factor 2 |
| Synonyms | COLB, HSAL2, mKIAA0360, Msal-2, p150(Sal2), Sal-2, spalt-like transcription factor 2, ZNF795 |
| 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 SALL2 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
- zinc finger
- transcription regulator
- binding protein
- double-stranded DNA binding
- nucleic acid binding
- Zinc-finger double domain
- protein binding
- zinc finger domain
- sequence-specific DNA binding
- C2H2-type zinc finger
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- tuberculosis
- agenesis
- dysgenesis
- autosomal recessive ocular coloboma
- preeclampsia
- exencephaly
role in cell
- apoptosis
- colony formation
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
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SALL2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- eye development
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity