UNC5D Gene - Netrin Receptor D
Comprehensive genomic and functional analysis of UNC5D, a member of the netrin receptor family involved in axon guidance and tumor suppression.
Gene Information Card
| Symbol | UNC5D |
|---|---|
| Full Name | unc-5 netrin receptor D |
| Gene Type | protein-coding |
| Chromosomal Location | 8p12 |
| NCBI Gene ID | 137970 ncbi.nlm.nih.gov/gene/137970 |
| Ensembl ID | ENSG00000156687 |
| UniProt ID | Q6UXF1 |
| OMIM ID | 613889 |
| HGNC ID | 30597 |
| Aliases | UNC5H4, ZG14 |
Description
UNC5D encodes a member of the UNC5 family of netrin receptors, which are transmembrane proteins that mediate axon guidance and cell migration. The protein acts as a dependence receptor, inducing apoptosis in the absence of netrin-1. UNC5D is implicated in tumor suppression, particularly in colorectal and other cancers, where its expression is often downregulated.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Loss of UNC5D expression via promoter methylation leads to reduced apoptosis and increased tumor progression. | PMID: 21804538 |
| Breast Cancer | UNC5D downregulation correlates with poor prognosis and metastasis. | PMID: 25642770 |
| Gastric Cancer | UNC5D silencing promotes cell proliferation and invasion. | PMID: 27323851 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Colon | 3.8 | Low |
| Breast | 2.1 | Not detected |
| Stomach | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.5 | Low expression |
| HCT116 | 0.8 | Very low (colorectal cancer line) |
| MCF7 | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function |
| c.890A>G (p.Tyr297Cys) | Missense | <0.1% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) truncate the protein, impairing netrin binding and pro-apoptotic signaling.
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)
| • cell adhesion (GO:0007155) | • axon guidance (GO:0007411) |
| • apoptotic process (GO:0006915) | • plasma membrane (GO:0005886) |
| • netrin receptor activity (GO:0005042) |
Pathways
• Netrin-UNC5 signaling (Reactome: R-HSA-373752)
• Apoptosis (KEGG: hsa04210)
Protein Summary
UNC5D is a 931-amino acid transmembrane protein with two immunoglobulin-like domains and two thrombospondin type-1 domains in the extracellular region, and a death domain in the intracellular region. It functions as a dependence receptor: in the presence of netrin-1, it promotes cell survival and migration; in its absence, it triggers apoptosis. The protein is expressed in neural tissues and is frequently silenced in cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UNC5D Knockout HEK293 Cell Line | EDJ-KQ9401 | Human | 137970 | Details Get a Quote |
| UNC5D Knockout HeLa Cell Line | EDJ-KQ58382 | Human | 137970 | Details Get a Quote |
| UNC5D Knockout A-549 Cell Line | EDJ-KQ66870 | Human | 137970 | Details Get a Quote |
| UNC5D Knockout HCT 116 Cell Line | EDJ-KQ75272 | Human | 137970 | Details Get a Quote |
