ZC4H2 Gene Summary [Human]
This gene encodes a member of the zinc finger domain-containing protein family. This family member has a C-terminal zinc finger domain that is characterized by four cysteine residues and two histidine residues, and it also includes a coiled-coil region. This protein has been detected as an autoantigen in hepatocellular carcinoma patients. This gene has been identified as a potential candidate for X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Details
| Type | Protein Coding |
| Official Symbol | ZC4H2 |
| Official Name | zinc finger C4H2-type containing [Source:HGNC Symbol;Acc:HGNC:24931] |
| Ensembl ID | ENSG00000126970 |
| Bio databases IDs | |
| Aliases | zinc finger C4H2-type containing |
| Synonyms | Gm372, HCA127, KIAA1166, MCS, mKIAA1166, MRXS4, RGD1561708, WRWF, WRWFFR, WWS, zinc finger, C4H2 domain containing, zinc finger C4H2-type containing |
| 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 ZC4H2 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-containing protein
- 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
- hereditary disorder
- Wieacker-Wolff syndrome
- female-restricted Wieacker-Wolff syndrome
- syndromic X-linked mental retardation
- neurodevelopmental disorder
role in cell
- expression in
- growth
- differentiation
- development
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
- Cytoplasm
- postsynaptic membrane
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ZC4H2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuromuscular junction development
- noradrenergic neuron development
- nervous system development
- spinal cord motor neuron differentiation
- positive regulation of neuron differentiation
- regulation of transcription regulatory region DNA binding
- positive regulation of sequence-specific DNA binding transcription factor activity
- protein monoubiquitination
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- postsynaptic membrane
- macromolecular complex
- neuronal cell body
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding