DRAXIN

Dorsal Inhibitory Axon Guidance Protein

Gene Information Card

Symbol DRAXIN
Full Name Dorsal Inhibitory Axon Guidance Protein
Gene Type Protein coding
Chromosomal Location 1p36.22
NCBI Gene ID 374864 ncbi.nlm.nih.gov/gene/374864
Ensembl ID ENSG00000162493
UniProt ID Q8NBI3
OMIM ID 609303
HGNC ID 24878
Aliases C1orf187, DRAX, FLJ37953

Description

DRAXIN (dorsal inhibitory axon guidance protein) is a secreted protein that functions as a chemorepellent during neural development, guiding axons away from the dorsal spinal cord. It is also implicated in cancer cell migration and proliferation.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Colorectal cancer Overexpression promotes tumor growth and metastasis PMID: 25944712
Breast cancer Upregulation associated with poor prognosis PMID: 27397505
Neurodevelopmental disorders Altered expression may disrupt axon guidance PMID: 19640509

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 0.8 Low
Spinal cord 1.2 Low
Colon 3.5 Medium
Breast 2.1 Low
Testis 0.5 Not detected
Cell Line Expression
Cell Line nTPM Notes
HCT116 (colon cancer) 4.2 Moderate expression
MCF7 (breast cancer) 2.8 Low expression
SH-SY5Y (neuroblastoma) 1.5 Low expression
HEK293 (embryonic kidney) 0.3 Not detected
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.287G>A (p.Arg96Gln) Missense 0.01% Unknown functional impact
c.451C>T (p.Pro151Ser) Missense 0.005% Predicted benign
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported.

Gain of Function (GOF)

Overexpression in cancers suggests potential gain-of-function role.

Dominant Negative (DN)

Not described.

Gene Ontology (GO)

• axon guidance • chemorepulsion
• extracellular region • signal transduction

Pathways

Axon guidance (Reactome: R-HSA-422475)

Protein Summary

DRAXIN is a 349-amino acid secreted protein containing a signal peptide and a cysteine-rich domain. It binds to the DCC receptor to mediate repulsive axon guidance. In cancer, DRAXIN overexpression enhances cell migration and invasion.

Related Products

Product name Cat.No. Species Gene ID
DRAXIN Knockout HEK293 Cell Line EDJ-KQ13214 Human 374946 Details Get a Quote
DRAXIN Knockout HeLa Cell Line EDJ-KQ59910 Human 374946 Details Get a Quote
DRAXIN Knockout A-549 Cell Line EDJ-KQ68372 Human 374946 Details Get a Quote
DRAXIN Knockout HCT 116 Cell Line EDJ-KQ76750 Human 374946 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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