LHX4 Gene Summary [Human]
This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor involved in the control of differentiation and development of the pituitary gland. Mutations in this gene cause combined pituitary hormone deficiency 4. [provided by RefSeq, Dec 2010]
Details
| Type | Protein Coding |
| Official Symbol | LHX4 |
| Official Name | LIM homeobox 4 [Source:HGNC Symbol;Acc:HGNC:21734] |
| Ensembl ID | ENSG00000121454 |
| Bio databases IDs | |
| Aliases | LIM homeobox 4 |
| Synonyms | A330062J17Rik, CPHD4, Gsh-4, LIM homeobox 4, LIM homeobox protein 4 |
| 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 LHX4 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
- LIM is a small protein-protein interaction domain, containing two zinc fingers
- double-stranded DNA binding
- methyl-CpG binding
- protein 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.
disease
- hypoplasia
- atelectasis
- acute myeloid leukemia
- combined pituitary hormone deficiency-4
role in cell
- expansion
- number
- differentiation
- apoptosis
- cell death
- guidance
- abnormal morphology
- specification
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
- intracellular space
- nuclear foci
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LHX4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- medial motor column neuron differentiation
- motor axon guidance
- neuron differentiation
- negative regulation of apoptotic process
- apoptotic process
- placenta development
- positive regulation of transcription from RNA polymerase II promoter
- organ morphogenesis
- 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
- zinc ion binding
- protein binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- methyl-CpG binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity