LRRC70: Leucine Rich Repeat Containing 70
A gene encoding a leucine-rich repeat protein with potential roles in ciliary function and cellular signaling.
Gene Information Card
| Symbol | LRRC70 |
|---|---|
| Full Name | Leucine Rich Repeat Containing 70 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 100131731 ncbi.nlm.nih.gov/gene/100131731 |
| Ensembl ID | ENSG00000214226 |
| UniProt ID | A6NKD9 |
| OMIM ID | Not assigned |
| HGNC ID | HGNC:37224 |
| Aliases | MGC16384, dJ1181N3.1 |
Description
LRRC70 (Leucine Rich Repeat Containing 70) is a protein-coding gene located on chromosome 5q31.1. The encoded protein contains leucine-rich repeat (LRR) domains, which are typically involved in protein-protein interactions and signal transduction. LRRC70 is predicted to play a role in ciliary function and may be involved in cellular processes such as cell cycle regulation and immune response. Expression data suggest broad tissue distribution with enrichment in certain epithelial and immune cell types.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Lung | 4.8 | Low |
| Spleen | 4.1 | Low |
| Kidney | 3.9 | Low |
| Brain | 2.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.1 | Embryonic kidney cells |
| HeLa | 5.5 | Cervical cancer cells |
| K562 | 4.3 | Leukemia cells |
| A549 | 3.8 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No known loss-of-function variants reported.
Gain of Function (GOF)
No known gain-of-function variants reported.
Dominant Negative (DN)
No known dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • identical protein binding (GO:0042802) |
| • cytoplasm (GO:0005737) |
Pathways
• No curated pathways available
Protein Summary
The LRRC70 protein (UniProt A6NKD9) is a 317-amino acid polypeptide containing leucine-rich repeat domains. LRR motifs are typically involved in mediating protein-protein interactions. The protein is predicted to localize to the cytoplasm and may be associated with ciliary structures. Its exact biological function remains under investigation, but it may participate in signaling complexes or cytoskeletal organization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRRC70 Knockout HEK293 Cell Line | EDJ-KQ14140 | Human | 100130733 | Details Get a Quote |
| LRRC70 Knockout HeLa Cell Line | EDJ-KQ60814 | Human | 100130733 | Details Get a Quote |
| LRRC70 Knockout A-549 Cell Line | EDJ-KQ69284 | Human | 100130733 | Details Get a Quote |
| LRRC70 Knockout HCT 116 Cell Line | EDJ-KQ77638 | Human | 100130733 | Details Get a Quote |
