LHFPL4
LHFPL Tetraspan Subfamily Member 4
Gene Information Card
| Symbol | LHFPL4 |
|---|---|
| Full Name | LHFPL Tetraspan Subfamily Member 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p25.3 |
| NCBI Gene ID | 375248 ncbi.nlm.nih.gov/gene/375248 |
| Ensembl ID | ENSG00000163617 |
| UniProt ID | Q96N23 |
| OMIM ID | 619827 |
| HGNC ID | 28883 |
| Aliases | MGC131914, bA203J24.7 |
Description
LHFPL4 (LHFPL Tetraspan Subfamily Member 4) is a protein-coding gene located on chromosome 3p25.3. It encodes a member of the LHFPL (lipoma HMGIC fusion partner-like) family of tetraspan proteins, characterized by four transmembrane domains. The protein is involved in cellular signaling and membrane organization. Limited functional studies suggest a role in neuronal development and hearing, as other LHFPL family members are associated with deafness. Expression data indicate broad tissue distribution with highest levels in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive deafness | Loss of function of LHFPL4 may disrupt hair cell function in the inner ear, similar to LHFPL5 | Inferred from homology to LHFPL5 (OMIM 609427) and family member function; no direct ClinVar entries for LHFPL4 as of 2025 |
| Hearing impairment | Potential involvement in auditory pathway due to tetraspan family role in stereocilia development | Indirect evidence from LHFPL5 (DFNB67); LHFPL4 not yet clinically validated |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lung | 6.8 | Low |
| Kidney | 5.3 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.4 | Moderate expression |
| SH-SY5Y | 11.0 | Neuronal cell line, higher expression |
| HeLa | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | <0.01% in gnomAD | Unknown; predicted benign by SIFT |
| c.315G>A (p.Trp105*) | Nonsense | <0.001% in gnomAD | Predicted loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Trp105*) are predicted to cause loss of function via nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No gain-of-function mutations reported for LHFPL4.
Dominant Negative (DN)
No dominant-negative mutations reported for LHFPL4.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane | • integral component of membrane |
| • protein binding |
Pathways
• No specific pathways curated in Reactome or KEGG for LHFPL4
Protein Summary
LHFPL4 is a 4-transmembrane domain protein (tetraspan) of 196 amino acids. It localizes to the plasma membrane and may participate in cell-cell communication and receptor complex formation. Structural homology to LHFPL5 suggests a role in sensory hair cell function, though direct evidence for LHFPL4 in hearing is lacking. The protein is broadly expressed, with enrichment in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LHFPL4 Knockout HEK293 Cell Line | EDJ-KQ6937 | Human | 375323 | Details Get a Quote |
| LHFPL4 Knockout HeLa Cell Line | EDJ-KQ59921 | Human | 375323 | Details Get a Quote |
| LHFPL4 Knockout A-549 Cell Line | EDJ-KQ68383 | Human | 375323 | Details Get a Quote |
| LHFPL4 Knockout HCT 116 Cell Line | EDJ-KQ76762 | Human | 375323 | Details Get a Quote |
