NTN4 (Netrin 4) Gene

A comprehensive guide to the NTN4 gene, its function, expression, and associated diseases.

Gene Information Card

Symbol NTN4
Full Name Netrin 4
Gene Type Protein coding
Chromosomal Location 12q22
NCBI Gene ID 59277 ncbi.nlm.nih.gov/gene/59277
Ensembl ID ENSG00000111011
UniProt ID Q9HB63
OMIM ID 607884
HGNC ID 13658
Aliases NET4, netrin-4, beta-netrin

Description

NTN4 (Netrin 4) is a protein-coding gene that encodes a member of the netrin family of secreted proteins. Netrins are involved in axon guidance, cell migration, and angiogenesis. NTN4 is expressed in various tissues and plays roles in neural development, vascular patterning, and tumor suppression.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast Cancer NTN4 may act as a tumor suppressor; reduced expression is associated with poor prognosis. PMID: 22952446
Diabetic Nephropathy NTN4 expression is altered in diabetic kidney disease, affecting podocyte survival and matrix remodeling. PMID: 25934867
Schizophrenia Genetic variants in NTN4 have been associated with schizophrenia risk in some populations. PMID: 21743477

Expression Profile

Tissue Expression
Tissue nTPM level
Kidney 12.5 Medium
Brain 8.3 Medium
Lung 6.1 Low
Heart 4.2 Low
Liver 2.1 Not detected
Cell Line Expression
Cell Line nTPM Notes
HEK 293 15.0 Embryonic kidney cells
SH-SY5Y 9.8 Neuroblastoma cells
MCF7 3.5 Breast cancer cells
HepG2 1.2 Hepatocellular carcinoma cells
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.101C>T (p.Thr34Met) Missense 0.01% Unknown functional impact
c.457G>A (p.Val153Ile) Missense 0.02% Reported in breast cancer
c.1234delC Frameshift <0.01% Predicted loss of function
Mutation functional classification

Loss of Function (LOF)

Frameshift mutations (e.g., c.1234delC) are predicted to cause loss of function, potentially contributing to tumor progression.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported.

Dominant Negative (DN)

No evidence for dominant-negative effects.

Gene Ontology (GO)

• axon guidance • cell adhesion
• angiogenesis • extracellular matrix organization
• netrin receptor binding

Pathways

• Netrin signaling
• Axon guidance
• Integrin signaling

Protein Summary

Netrin-4 is a secreted protein of approximately 70 kDa. It contains a laminin N-terminal domain, three EGF-like repeats, and a C-terminal netrin domain. It binds to integrins and neogenin receptors, regulating cell migration and adhesion. Netrin-4 is involved in neural development, blood vessel formation, and tumor suppression.

Related Products

Product name Cat.No. Species Gene ID
NTN4 Knockout HEK293 Cell Line EDJ-KQ14510 Human 59277 Details Get a Quote
NTN4 Knockout A-549 Cell Line EDJ-KQ44782 Human 59277 Details Get a Quote
NTN4 Knockout HCT 116 Cell Line EDJ-KQ44783 Human 59277 Details Get a Quote
NTN4 Knockout HeLa Cell Line EDJ-KQ43531 Human 59277 Details Get a Quote
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