LRRC10: Leucine-Rich Repeat-Containing Protein 10 in Cardiac Development and Disease
A cardiac-specific gene implicated in dilated cardiomyopathy and heart development
Gene Information Card
| Symbol | LRRC10 |
|---|---|
| Full Name | Leucine Rich Repeat Containing 10 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 388697 ncbi.nlm.nih.gov/gene/388697 |
| Ensembl ID | ENSG00000174437 |
| UniProt ID | Q5T811 |
| OMIM ID | 613762 |
| HGNC ID | 29319 |
| Aliases | FLJ32743, MGC131895 |
Description
LRRC10 (Leucine Rich Repeat Containing 10) is a protein-coding gene that encodes a cardiac-specific protein containing leucine-rich repeats. It is involved in heart development and cardiac function. Mutations in LRRC10 have been associated with dilated cardiomyopathy (DCM). The protein is thought to play a role in sarcomere organization and calcium handling in cardiomyocytes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated cardiomyopathy (DCM) | Missense mutations in LRRC10 disrupt sarcomere integrity and calcium signaling, leading to impaired cardiac contractility. | ClinVar, OMIM |
| Cardiomyopathy, familial dilated | LRRC10 variants cosegregate with disease in families; functional studies show reduced myofilament calcium sensitivity. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal muscle | 0.2 | Not detected |
| Liver | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 15.0 | Cardiac-specific expression |
| HeLa | 0.0 | No expression |
| HEK293 | 0.0 | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80Cys) | Missense | Rare (0.0001 in gnomAD) | Associated with dilated cardiomyopathy; reduces protein stability |
| c.427G>A (p.Gly143Ser) | Missense | Rare | Reported in DCM; alters calcium handling |
Mutation functional classification
Loss of Function (LOF)
p.Arg80Cys leads to reduced protein stability and impaired sarcomere function.
Gain of Function (GOF)
No evidence for gain-of-function mutations in LRRC10.
Dominant Negative (DN)
p.Gly143Ser may act via dominant-negative mechanism by disrupting protein-protein interactions in the sarcomere.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cardiac muscle contraction (KEGG: hsa04260)
• Dilated cardiomyopathy (KEGG: hsa05414)
Protein Summary
LRRC10 is a 299-amino acid protein containing leucine-rich repeats (LRRs) that mediate protein-protein interactions. It is specifically expressed in cardiac muscle and localizes to the sarcomere, particularly the Z-disc. The protein interacts with α-actinin and other sarcomeric components, contributing to myofibril organization and calcium sensitivity. Mutations in LRRC10 are linked to dilated cardiomyopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRRC10 Knockout HEK293 Cell Line | EDJ-KQ14117 | Human | 376132 | Details Get a Quote |
| LRRC10B Knockout HEK293 Cell Line | EDJ-KQ14118 | Human | 390205 | Details Get a Quote |
| LRRC10 Knockout HeLa Cell Line | EDJ-KQ59936 | Human | 376132 | Details Get a Quote |
| LRRC10B Knockout HeLa Cell Line | EDJ-KQ60157 | Human | 390205 | Details Get a Quote |
| LRRC10 Knockout A-549 Cell Line | EDJ-KQ68396 | Human | 376132 | Details Get a Quote |
| LRRC10B Knockout A-549 Cell Line | EDJ-KQ68618 | Human | 390205 | Details Get a Quote |
| LRRC10 Knockout HCT 116 Cell Line | EDJ-KQ76776 | Human | 376132 | Details Get a Quote |
| LRRC10B Knockout HCT 116 Cell Line | EDJ-KQ76987 | Human | 390205 | Details Get a Quote |
