SLC25A39
Solute Carrier Family 25 Member 39
Gene Information Card
| Symbol | SLC25A39 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 39 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q12 |
| NCBI Gene ID | 51629 ncbi.nlm.nih.gov/gene/51629 |
| Ensembl ID | ENSG00000108370 |
| UniProt ID | Q9BZJ4 |
| OMIM ID | 610819 |
| HGNC ID | 26015 |
| Aliases | CGI-69, dJ1009E9.1 |
Description
SLC25A39 encodes a member of the SLC25 mitochondrial carrier family. The protein is localized to the inner mitochondrial membrane and is involved in the transport of metabolites. It is ubiquitously expressed and has been implicated in mitochondrial function and cellular metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association in ClinVar | Not established | No pathogenic variants reported in ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 10.2 | Medium |
| Brain | 8.5 | Medium |
| Liver | 12.1 | Medium |
| Heart | 9.8 | Medium |
| Kidney | 11.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.4 | High expression |
| HeLa | 12.7 | Medium expression |
| K562 | 9.1 | Medium expression |
| HepG2 | 13.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown |
| c.100C>T | missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • integral component of membrane (GO:0016021) |
| • mitochondrial phosphate transmembrane transporter activity (GO:0005315) | • transmembrane transport (GO:0055085) |
Pathways
• Mitochondrial transport
Protein Summary
SLC25A39 is a 388-amino acid protein with six transmembrane domains, characteristic of mitochondrial carrier proteins. It is predicted to transport small molecules across the inner mitochondrial membrane, contributing to mitochondrial homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A39 Knockout HEK293 Cell Line | EDJ-KQ3773 | Human | 51629 | Details Get a Quote |
| SLC25A39 Knockout A-549 Cell Line | EDJ-KQ25865 | Human | 51629 | Details Get a Quote |
| SLC25A39 Knockout HCT 116 Cell Line | EDJ-KQ25866 | Human | 51629 | Details Get a Quote |
| SLC25A39 Knockout HeLa Cell Line | EDJ-KQ25867 | Human | 51629 | Details Get a Quote |
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