DGCR6 Gene Summary [Human]
DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrome pathology and in schizophrenia. [provided by RefSeq, Nov 2008]
Details
| Type | Protein Coding |
| Official Symbol | DGCR6 |
| Official Name | DiGeorge syndrome critical region gene 6 [Source:HGNC Symbol;Acc:HGNC:2846] |
| Ensembl ID | ENSG00000183628 |
| Bio databases IDs | |
| Aliases | DiGeorge syndrome critical region gene 6 |
| Synonyms | AC007325.4, DiGeorge syndrome critical region gene 6, LOC102724770 |
| Species | Human, Homo sapiens |
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 DGCR6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- DiGeorge syndrome critical region 6 (DGCR6) protein
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
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DGCR6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell adhesion
- organ morphogenesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular matrix
Molecular Function
What the gene product does at the molecular level
- protein binding