LHFPL5
LHFPL Tetraspan Subfamily Member 5 Gene
Gene Information Card
| Symbol | LHFPL5 |
|---|---|
| Full Name | LHFPL Tetraspan Subfamily Member 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 222842 ncbi.nlm.nih.gov/gene/222842 |
| Ensembl ID | ENSG00000197912 |
| UniProt ID | Q8TAF8 |
| OMIM ID | 609427 |
| HGNC ID | 21239 |
| Aliases | DFNB67, TMHS, bA108L7.2 |
Description
LHFPL5 (LHFPL Tetraspan Subfamily Member 5) is a protein-coding gene located on chromosome 6p21.31. It encodes a tetraspan transmembrane protein essential for the development and function of hair cell stereocilia in the inner ear. Mutations in LHFPL5 cause autosomal recessive nonsyndromic hearing loss (DFNB67). The protein is involved in mechanotransduction and tip-link formation in cochlear hair cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss (DFNB67) | Loss-of-function mutations in LHFPL5 disrupt stereocilia tip-link integrity and mechanotransduction | OMIM 609427; ClinVar pathogenic variants |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cochlea | Not available | High (RNA-seq) |
| Testis | 0.8 | Low |
| Brain | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.1 | Low expression |
| K562 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.250C>T (p.Arg84*) | Nonsense | Rare | Loss of function; associated with DFNB67 |
| c.494G>A (p.Trp165*) | Nonsense | Rare | Loss of function; associated with DFNB67 |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein and loss of stereocilia function
Gain of Function (GOF)
None reported
Dominant Negative (DN)
None reported
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • integral component of membrane (GO:0016021) |
| • sensory perception of sound (GO:0007605) | • auditory receptor cell stereocilium organization (GO:0060088) |
| • protein binding (GO:0005515) |
Pathways
• Stereocilia tip-link assembly
• Mechanotransduction in hair cells
Protein Summary
LHFPL5 is a 229-amino-acid tetraspan membrane protein with four transmembrane domains. It localizes to the stereocilia of inner ear hair cells and is required for the formation and maintenance of tip links, which gate mechanoelectrical transduction channels. The protein interacts with other stereocilia components such as TMC1 and TMC2.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LHFPL5 Knockout HEK293 Cell Line | EDJ-KQ9033 | Human | 222662 | Details Get a Quote |
| LHFPL5 Knockout A-549 Cell Line | EDJ-KQ35477 | Human | 222662 | Details Get a Quote |
| LHFPL5 Knockout HCT 116 Cell Line | EDJ-KQ35478 | Human | 222662 | Details Get a Quote |
| LHFPL5 Knockout HeLa Cell Line | EDJ-KQ35479 | Human | 222662 | Details Get a Quote |
