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.

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 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
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