UNC5CL Gene - Netrin Receptor UNC5C-Like
Comprehensive genomic and functional overview of UNC5CL, a member of the UNC5 netrin receptor family involved in axon guidance and cell migration.
Gene Information Card
| Symbol | UNC5CL |
|---|---|
| Full Name | Unc-5 Netrin Receptor C-Like |
| Gene Type | Protein-coding |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 222643 ncbi.nlm.nih.gov/gene/222643 |
| Ensembl ID | ENSG00000124614 |
| UniProt ID | Q8IYX8 |
| OMIM ID | 617862 |
| HGNC ID | 26942 |
| Aliases | MGC141976, MGC141977, UNC5C-like |
Description
UNC5CL (Unc-5 Netrin Receptor C-Like) is a protein-coding gene located on chromosome 6p21.31. It encodes a member of the UNC5 family of netrin receptors, which are involved in axon guidance, cell migration, and apoptosis. The protein contains a death domain and is thought to mediate repulsive guidance signals in response to netrin-1. UNC5CL is expressed in various tissues and has been implicated in cancer and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Potential role in netrin-1 signaling dysregulation; altered expression may promote tumorigenesis | COSMIC: somatic mutations reported; limited functional studies |
| Breast Cancer | UNC5CL expression changes observed; possible involvement in cell migration | NCBI Gene: expression profiling studies |
| Neurodevelopmental Disorders | UNC5 family members guide neuronal migration; UNC5CL may contribute to axon guidance defects | OMIM: 617862; inferred from family homology |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 2.1 | Low |
| Lung | 1.8 | Low |
| Liver | 0.9 | Not detected |
| Kidney | 1.5 | Low |
| Testis | 3.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.2 | Low expression |
| HeLa | 0.8 | Not detected |
| MCF7 | 2.0 | Low expression |
| A549 | 1.6 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.02% (gnomAD) | Unknown; predicted damaging by SIFT |
| c.1423G>A (p.Gly475Arg) | Missense | 0.01% (gnomAD) | Unknown; predicted tolerated |
| c.1876_1877insA | Frameshift | Rare (COSMIC) | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants likely lead to truncated protein or nonsense-mediated decay, reducing netrin receptor activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported for UNC5CL.
Dominant Negative (DN)
Missense variants in the death domain may interfere with wild-type receptor signaling, but evidence is limited.
View complete mutation data:
Gene Ontology (GO)
| • netrin receptor activity (GO:0005042) | • signal transduction (GO:0007165) |
| • axon guidance (GO:0007411) | • cell migration (GO:0016477) |
| • apoptotic process (GO:0006915) |
Pathways
• Netrin-1 signaling (REACT:14797)
• Axon guidance (KEGG:04360)
Protein Summary
UNC5CL is a transmembrane protein of the UNC5 netrin receptor family. It contains an extracellular domain for netrin binding, a transmembrane region, and an intracellular death domain. The protein mediates repulsive axon guidance and may regulate cell survival. Its expression is low in most tissues, with highest levels in testis. Structural studies are limited, but homology to UNC5A-C suggests a role in netrin-1-dependent signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UNC5CL Knockout HEK293 Cell Line | EDJ-KQ8274 | Human | 222643 | Details Get a Quote |
| UNC5CL Knockout A-549 Cell Line | EDJ-KQ35476 | Human | 222643 | Details Get a Quote |
| UNC5CL Knockout HeLa Cell Line | EDJ-KQ59195 | Human | 222643 | Details Get a Quote |
| UNC5CL Knockout HCT 116 Cell Line | EDJ-KQ76050 | Human | 222643 | Details Get a Quote |