Lhfpl5 Gene Summary [Mouse]
Acts upstream of or within auditory receptor cell stereocilium organization and detection of mechanical stimulus involved in sensory perception of sound. Located in apical plasma membrane and stereocilium tip. Is expressed in several structures, including cranial ganglion; genitourinary system; inner ear; lung; and superior cervical ganglion. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 67. Orthologous to human LHFPL5 (LHFPL tetraspan subfamily member 5). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Lhfpl5 |
| Official Name | lipoma HMGIC fusion partner-like 5 [Source:MGI Symbol;Acc:MGI:1915382] |
| Ensembl ID | ENSMUSG00000062252 |
| Bio databases IDs | |
| Aliases | lipoma HMGIC fusion partner-like 5 |
| Synonyms | 9330179O15Rik, DFNB67, dJ510O8.8, hscy, LHFPL tetraspan subfamily member 5, lipoma HMGIC fusion partner-like 5, MGC33835, TMHS |
| Species | Mouse, Mus musculus |
| 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 mouse Lhfpl5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- Lipoma HMGIC fusion partner-like protein
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive deafness type 67
- insulin-dependent diabetes mellitus
- hearing loss
- autosomal recessive deafness
- familial nonsyndromic hearing impairment
- ear malformation
regulates
role in cell
- stabilization 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.
- Plasma Membrane
- stereocilia
- apical membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Lhfpl5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sensory perception of sound
- auditory receptor cell stereocilium organization
- ion transport
- detection of mechanical stimulus involved in sensory perception of sound
- detection of mechanical stimulus involved in sensory perception
Cellular Component
Where in the cell the gene product is active
- stereocilium bundle tip
- apical plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding