HMX2 Gene Summary [Human]
The protein encoded by this gene is a member of the NKL homeobox family of transcription factors. Members in this family are of ancient origin and play an important role in organ development during embryogenesis. A related mouse protein plays a role in patterning of inner ear structures. In humans, variations in a region containing this gene have been associated with inner ear malformations, vestibular dysfunction, and hearing loss. [provided by RefSeq, Aug 2012]
Details
| Type | Protein Coding |
| Official Symbol | HMX2 |
| Official Name | H6 family homeobox 2 [Source:HGNC Symbol;Acc:HGNC:5018] |
| Ensembl ID | ENSG00000188816 |
| Bio databases IDs | |
| Aliases | H6 family homeobox 2 |
| Synonyms | H6 family homeobox 2, H6 homeobox 2, H6L, Nkx-5.2, Nkx5-2, RGD1565366 |
| 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 HMX2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- double-stranded DNA binding
- sequence-specific DNA binding
- homeodomain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HMX2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- epithelial cell proliferation
- positive regulation of nuclear mRNA splicing, via spliceosome
- positive regulation of stem cell proliferation
- stem cell proliferation
- inner ear morphogenesis
- cell differentiation
- brain development
- positive regulation of epithelial cell proliferation
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- RNA polymerase II regulatory region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity