HOXC4 Gene Summary [Human]
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC4, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants that encode the same protein have been described for HOXC4. Transcript variant one includes the shared exon, and transcript variant two includes only gene-specific exons. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | HOXC4 |
| Official Name | homeobox C4 [Source:HGNC Symbol;Acc:HGNC:5126] |
| Ensembl ID | ENSG00000198353 |
| Bio databases IDs | |
| Aliases | homeobox C4 |
| Synonyms | cp19, homeobox C4, HOX3, Hox-3.5, HOX3E, Hox3r3, Hs.567289 |
| 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 HOXC4 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 regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- protein domain specific binding
- protein binding
- sequence-specific DNA binding
- homeodomain
Pathways
Biological processes and signaling networks where the HOXC4 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cardiovascular disorder
- non-insulin-dependent diabetes mellitus
- chronic obstructive pulmonary disease
- MYCN amplification negative neuroblastoma
- neuroblastoma formation
- rheumatoid arthritis
- hypertension
- lung adenocarcinoma
- lung adenocarcinoma formation
- osteoporosis
role in cell
- expression in
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
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HOXC4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- anterior/posterior pattern specification
- positive regulation of transcription from RNA polymerase II promoter
- embryonic skeletal system morphogenesis
- cartilage development
Cellular Component
Where in the cell the gene product is active
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- HMG box domain binding
- protein binding
- RNA polymerase II core promoter proximal 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