LRCH4: Leucine-Rich Repeats and Calponin Homology Domain-Containing Protein 4
A comprehensive genomic and proteomic overview of LRCH4, including gene structure, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | LRCH4 |
|---|---|
| Full Name | Leucine-Rich Repeats and Calponin Homology Domain-Containing Protein 4 |
| Gene Type | Protein-coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 4034 ncbi.nlm.nih.gov/gene/4034 |
| Ensembl ID | ENSG00000105974 |
| UniProt ID | O75427 |
| OMIM ID | 608937 |
| HGNC ID | 6716 |
| Aliases | LRCH4, FLJ20297, MGC138290 |
Description
LRCH4 encodes a protein containing leucine-rich repeats and a calponin homology domain. It is involved in cytoskeletal organization and cell signaling. The gene is located on chromosome 7q22.1 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Lung | 9.7 | Low |
| Kidney | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Moderate expression |
| HeLa | 10.8 | Low expression |
| K562 | 5.3 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.01% | Unknown |
| c.567delA | Frameshift | <0.01% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.567delA) are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cytoskeleton (GO:0005856) | • signal transduction (GO:0007165) |
Pathways
• No specific pathways curated in Reactome or KEGG for LRCH4
Protein Summary
The LRCH4 protein contains leucine-rich repeats and a calponin homology domain, suggesting roles in protein-protein interactions and cytoskeletal dynamics. It is localized in the cytoplasm and may participate in signal transduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRCH4 Knockout HEK293 Cell Line | EDJ-KQ5142 | Human | 4034 | Details Get a Quote |
| LRCH4 Knockout A-549 Cell Line | EDJ-KQ28103 | Human | 4034 | Details Get a Quote |
| LRCH4 Knockout HCT 116 Cell Line | EDJ-KQ28104 | Human | 4034 | Details Get a Quote |
| LRCH4 Knockout HeLa Cell Line | EDJ-KQ28105 | Human | 4034 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
