LRRC52: Leucine Rich Repeat Containing 52
A potassium channel auxiliary subunit with roles in sperm physiology and potential links to male infertility
Gene Information Card
| Symbol | LRRC52 |
|---|---|
| Full Name | Leucine Rich Repeat Containing 52 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q24.1 |
| NCBI Gene ID | 440699 ncbi.nlm.nih.gov/gene/440699 |
| Ensembl ID | ENSG00000162692 |
| UniProt ID | Q8N7N5 |
| OMIM ID | 617460 |
| HGNC ID | 28610 |
| Aliases | MGC15619, bA364G4.2 |
Description
LRRC52 (Leucine Rich Repeat Containing 52) is a protein-coding gene located on chromosome 1q24.1. The encoded protein contains leucine-rich repeats and functions as an auxiliary subunit of the SLO3 potassium channel, which is essential for sperm physiology. LRRC52 is predominantly expressed in the testis and plays a critical role in the regulation of sperm membrane potential and male fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | LRRC52 mutations may impair SLO3 channel function, disrupting sperm membrane hyperpolarization and acrosome reaction | OMIM 617460; limited case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Fallopian tube | 0.3 | Not detected |
| Prostate | 0.2 | Not detected |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | N/A | High expression; functional role in sperm |
| Testicular cell lines | N/A | Limited data |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Potential loss of start codon; predicted loss of function |
| c.325C>T (p.Arg109Trp) | missense | Rare | May disrupt protein structure; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt LRRC52 interaction with SLO3 or impair channel gating are predicted to cause loss of function, leading to defective sperm capacitation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) | • voltage-gated potassium channel complex (GO:0008076) |
| • potassium ion transport (GO:0006813) | • single fertilization (GO:0007338) |
Pathways
• Sperm capacitation (SLO3 potassium channel regulation)
Protein Summary
The LRRC52 protein is a 343-amino acid transmembrane protein containing leucine-rich repeats. It associates with the SLO3 potassium channel (KCNU1) as an auxiliary subunit, modulating channel activity and voltage dependence. LRRC52 is essential for the hyperpolarization of sperm membrane potential during capacitation, a prerequisite for the acrosome reaction and fertilization. Expression is highly restricted to the testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRRC52 Knockout HEK293 Cell Line | EDJ-KQ14134 | Human | 440699 | Details Get a Quote |
| LRRC52 Knockout HeLa Cell Line | EDJ-KQ60402 | Human | 440699 | Details Get a Quote |
| LRRC52 Knockout A-549 Cell Line | EDJ-KQ68870 | Human | 440699 | Details Get a Quote |
| LRRC52 Knockout HCT 116 Cell Line | EDJ-KQ77232 | Human | 440699 | Details Get a Quote |
