ZCCHC12 Gene Summary [Human]
This gene encodes a downstream effector of bone morphogenetic protein (BMP) signalling. This protein contains a zinc finger domain and functions as a transcriptional coactivator. Variation in this gene may be associated with X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Details
| Type | Protein Coding |
| Official Symbol | ZCCHC12 |
| Official Name | zinc finger CCHC-type containing 12 [Source:HGNC Symbol;Acc:HGNC:27273] |
| Ensembl ID | ENSG00000174460 |
| Bio databases IDs | |
| Aliases | zinc finger CCHC-type containing 12, paraneoplastic Ma antigen family member 7A |
| Synonyms | 2810028A01Rik, PNMA7A, SIZN, SIZN1, zinc finger, CCHC domain containing 12, zinc finger CCHC-type containing 12 |
| 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 ZCCHC12 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- transcription co-activator
- SUMO interaction motif
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- cervical cancer
- thyroid carcinoma
- epithelial thyroid cancer
- cervical small cell carcinoma
- extrapulmonary small cell cancer
- epithelial uterine cancer
regulates
- AKT
- DNA promoter
- DNA endogenous promoter
- RNA polymerase II
- PI3K (family)
role in cell
- proliferation
- phosphorylation in
- apoptosis
- migration
- S phase
- epithelial-mesenchymal transition
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 speckles
- PML nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ZCCHC12 gene, providing context for its role in the cell.
Cellular Component
Where in the cell the gene product is active
- nucleus
Molecular Function
What the gene product does at the molecular level
- nucleic acid binding
- zinc ion binding
- protein binding