SYNJ2BP
Synaptojanin 2 Binding Protein
Gene Information Card
| Symbol | SYNJ2BP |
|---|---|
| Full Name | Synaptojanin 2 Binding Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 14q24.2 |
| NCBI Gene ID | 55333 ncbi.nlm.nih.gov/gene/55333 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | O43617 |
| OMIM ID | 609975 |
| HGNC ID | 11475 |
| Aliases | ARIP2, OMP25, S2BP |
Description
SYNJ2BP encodes a protein that binds to synaptojanin 2, a phosphoinositide phosphatase involved in synaptic vesicle recycling. The encoded protein is localized to mitochondria and may play a role in mitochondrial function and intracellular signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association confirmed in OMIM or ClinVar | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.8 | Low |
| Testis | 15.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 5.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion | • protein binding |
| • synaptic vesicle recycling |
Pathways
• Synaptic vesicle cycle
• Phosphoinositide metabolism
Protein Summary
SYNJ2BP is a 25 kDa mitochondrial outer membrane protein that interacts with synaptojanin 2. It may regulate phosphoinositide signaling at the mitochondrial surface and influence synaptic function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYNJ2BP Knockout HEK293 Cell Line | EDJ-KQ51446 | Human | 55333 | Details Get a Quote |
| SYNJ2BP-COX16 Knockout HEK293 Cell Line | EDJ-KQ52499 | Human | 100529257 | Details Get a Quote |
| SYNJ2BP Knockout HeLa Cell Line | EDJ-KQ56579 | Human | 55333 | Details Get a Quote |
| SYNJ2BP-COX16 Knockout HeLa Cell Line | EDJ-KQ60962 | Human | 100529257 | Details Get a Quote |
| SYNJ2BP Knockout A-549 Cell Line | EDJ-KQ65075 | Human | 55333 | Details Get a Quote |
| SYNJ2BP-COX16 Knockout A-549 Cell Line | EDJ-KQ69437 | Human | 100529257 | Details Get a Quote |
| SYNJ2BP Knockout HCT 116 Cell Line | EDJ-KQ73520 | Human | 55333 | Details Get a Quote |
| SYNJ2BP-COX16 Knockout HCT 116 Cell Line | EDJ-KQ77788 | Human | 100529257 | Details Get a Quote |
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