LRRC47: Leucine Rich Repeat Containing 47
A comprehensive biomedical resource for LRRC47, covering gene annotation, expression, mutations, and disease associations.
Gene Information Card
| Symbol | LRRC47 |
|---|---|
| Full Name | Leucine Rich Repeat Containing 47 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.32 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000117519 |
| UniProt ID | Q8N1G4 |
| OMIM ID | 617475 |
| HGNC ID | 28738 |
| Aliases | FLJ10324, MGC138290 |
Description
LRRC47 (Leucine Rich Repeat Containing 47) is a protein-coding gene located on chromosome 1p36.32. The encoded protein contains leucine-rich repeats, which are typically involved in protein-protein interactions. LRRC47 is widely expressed in various tissues and may play roles in cellular signaling and structural organization. Its exact biological function is not fully characterized, but it is conserved across species.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No curated evidence in ClinVar or OMIM as of current data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 6.5 | Low expression |
| A549 | 5.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Trp) | Missense | <0.01% | Unknown significance |
| c.456G>A (p.Thr152Thr) | Synonymous | <0.01% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) |
Pathways
• No curated pathways in Reactome or KEGG for LRRC47
Protein Summary
The LRRC47 protein (UniProt Q8N1G4) is 447 amino acids long and contains leucine-rich repeat domains. It is predicted to localize to the cytoplasm and nucleus, and may participate in protein-protein interactions. Its precise molecular function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRRC47 Knockout HEK293 Cell Line | EDJ-KQ14131 | Human | 57470 | Details Get a Quote |
| LRRC47 Knockout A-549 Cell Line | EDJ-KQ44059 | Human | 57470 | Details Get a Quote |
| LRRC47 Knockout HCT 116 Cell Line | EDJ-KQ44060 | Human | 57470 | Details Get a Quote |
| LRRC47 Knockout HeLa Cell Line | EDJ-KQ44061 | Human | 57470 | Details Get a Quote |
