SNRK Gene - SNF Related Kinase
Comprehensive gene information for SNRK (SNF Related Kinase) from NCBI, Ensembl, UniProt, OMIM, HGNC, COSMIC, and ClinVar.
Gene Information Card
| Symbol | SNRK |
|---|---|
| Full Name | SNF Related Kinase |
| Gene Type | protein-coding |
| Chromosomal Location | 3p22.1 |
| NCBI Gene ID | 54861 ncbi.nlm.nih.gov/gene/54861 |
| Ensembl ID | ENSG00000163788 |
| UniProt ID | Q9NRH2 |
| OMIM ID | 609782 |
| HGNC ID | 30598 |
| Aliases | SNF1LK, SNF1-kinase, KIAA0096 |
Description
SNRK (SNF Related Kinase) is a protein-coding gene located on chromosome 3p22.1. It encodes a serine/threonine kinase belonging to the AMPK family, involved in cellular energy homeostasis, stress response, and regulation of transcription. SNRK is widely expressed in multiple tissues and has been implicated in metabolic disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Metabolic syndrome | SNRK regulates AMPK signaling and energy metabolism; dysregulation may contribute to insulin resistance and obesity. | PMID: 23415227 |
| Colorectal cancer | SNRK expression is altered in colorectal tumors; potential tumor suppressor role via cell cycle regulation. | COSMIC: SNRK mutations in colorectal cancer |
| Breast cancer | SNRK copy number variations and expression changes observed in breast cancer cell lines. | COSMIC: SNRK in breast cancer |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 15.2 | Medium |
| Liver | 10.1 | Medium |
| Skeletal muscle | 18.7 | Medium |
| Pancreas | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 9.5 | Moderate expression |
| MCF7 | 7.2 | Low expression |
| HepG2 | 11.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | <0.1% | Unknown functional impact |
| c.1456G>A (p.Glu486Lys) | Missense | <0.1% | Predicted benign |
| c.1789_1790insA | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1789_1790insA) likely lead to truncated protein and loss of kinase activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in major databases.
Dominant Negative (DN)
No evidence for dominant-negative effects in current literature.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • ATP binding |
| • regulation of transcription | • DNA-templated |
| • cellular response to stress | • AMPK signaling |
Pathways
• AMPK signaling pathway
• Cellular response to glucose starvation
• Regulation of lipid metabolism
Protein Summary
SNRK encodes a 746-amino acid serine/threonine kinase with an N-terminal kinase domain and a C-terminal regulatory region. It functions as a sensor of cellular energy status, phosphorylating downstream targets involved in metabolism and transcription. The protein is ubiquitously expressed with highest levels in skeletal muscle and heart.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNRK Knockout HEK293 Cell Line | EDJ-KQ15407 | Human | 54861 | Details Get a Quote |
| SNRK Knockout A-549 Cell Line | EDJ-KQ46179 | Human | 54861 | Details Get a Quote |
| SNRK Knockout HCT 116 Cell Line | EDJ-KQ46180 | Human | 54861 | Details Get a Quote |
| SNRK Knockout HeLa Cell Line | EDJ-KQ46181 | Human | 54861 | Details Get a Quote |
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