SNX19: Sorting Nexin 19 Gene
A gene encoding a sorting nexin family member involved in intracellular trafficking and potential tumor suppression.
Gene Information Card
| Symbol | SNX19 |
|---|---|
| Full Name | Sorting Nexin 19 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q25 |
| NCBI Gene ID | 399979 ncbi.nlm.nih.gov/gene/399979 |
| Ensembl ID | ENSG00000148848 |
| UniProt ID | Q8N4C6 |
| OMIM ID | 611101 |
| HGNC ID | 30589 |
| Aliases | KIAA0802, MGC138290 |
Description
SNX19 (Sorting Nexin 19) is a protein-coding gene belonging to the sorting nexin family, characterized by a phox (PX) domain that binds phosphoinositides. The encoded protein is involved in intracellular trafficking, endosomal sorting, and may function as a tumor suppressor. SNX19 is located on chromosome 11q25 and is expressed in multiple tissues. Alterations in SNX19 have been implicated in various cancers and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Potential tumor suppressor; loss of expression may promote tumorigenesis | COSMIC; PMID: 21573173 |
| Colorectal cancer | Downregulation associated with poor prognosis | COSMIC; PMID: 23593030 |
| Schizophrenia | Genetic association studies suggest linkage to 11q25 region | OMIM 611101; PMID: 17903297 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Lung | 10.2 | Medium |
| Kidney | 9.7 | Medium |
| Testis | 15.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression |
| HeLa | 11.5 | Medium expression |
| MCF7 | 8.9 | Low expression |
| A549 | 10.1 | Medium expression |
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; truncation |
| c.567_568insA (p.Glu190fs) | Frameshift | <0.1% | Loss of function; frameshift |
| c.890A>G (p.Asn297Ser) | Missense | 0.2% | Unknown; likely benign |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations have been reported in SNX19.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for SNX19.
View complete mutation data：
Gene Ontology (GO)
| • intracellular protein transport (GO:0006886) | • phosphatidylinositol binding (GO:0035091) |
| • endosome (GO:0005768) | • cytoplasm (GO:0005737) |
Pathways
• Endosomal sorting pathway
• Phosphoinositide signaling
Protein Summary
The SNX19 protein (UniProt Q8N4C6) is a 1049-amino acid sorting nexin containing a PX domain that binds phosphatidylinositol 3-phosphate, targeting the protein to endosomal membranes. It is involved in endosomal trafficking and protein sorting. The protein is widely expressed, with highest levels in testis and brain. Structural studies are limited, but its role in vesicle-mediated transport is well established.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNX19 Knockout HEK293 Cell Line | EDJ-KQ2525 | Human | 399979 | Details Get a Quote |
| SNX19 Knockout A-549 Cell Line | EDJ-KQ23143 | Human | 399979 | Details Get a Quote |
| SNX19 Knockout HCT 116 Cell Line | EDJ-KQ23144 | Human | 399979 | Details Get a Quote |
| SNX19 Knockout HeLa Cell Line | EDJ-KQ21784 | Human | 399979 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
