SLC25A16
Solute Carrier Family 25 Member 16
Gene Information Card
| Symbol | SLC25A16 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 16 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q22.1 |
| NCBI Gene ID | 8034 ncbi.nlm.nih.gov/gene/8034 |
| Ensembl ID | ENSG00000122912 |
| UniProt ID | P16260 |
| OMIM ID | 139080 |
| HGNC ID | 10989 |
| Aliases | GDA, D10S105E, ML7 |
Description
SLC25A16 encodes a member of the mitochondrial carrier family (SLC25) that transports coenzyme A (CoA) and adenosine 3',5'-diphosphate (PAP) across the inner mitochondrial membrane. It is involved in CoA homeostasis and mitochondrial metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Graves disease | Associated with autoimmune thyroid disorder; genetic variants may influence susceptibility | OMIM 139080; NCBI GeneRIF |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 7.2 | Medium |
| Kidney | 5.8 | Medium |
| Heart | 4.1 | Low |
| Brain | 2.3 | Low |
| Testis | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 6.0 | Hepatocellular carcinoma cell line |
| HEK 293 | 3.5 | Embryonic kidney cells |
| K-562 | 2.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497C>T (p.Thr166Ile) | Missense | <0.01% | Unknown functional effect |
| c.1042G>A (p.Gly348Arg) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Not established; no confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
Not established.
Dominant Negative (DN)
Not established.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Coenzyme A biosynthesis (mitochondrial transport)
• Mitochondrial nucleotide transport
Protein Summary
SLC25A16 is a mitochondrial inner membrane protein that functions as a transporter for coenzyme A and adenosine 3',5'-diphosphate (PAP). It plays a critical role in maintaining mitochondrial CoA pools and nucleotide homeostasis. The protein contains three tandem repeats of a characteristic mitochondrial carrier domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A16 Knockout HEK293 Cell Line | EDJ-KQ6161 | Human | 8034 | Details Get a Quote |
| SLC25A16 Knockout A-549 Cell Line | EDJ-KQ29973 | Human | 8034 | Details Get a Quote |
| SLC25A16 Knockout HCT 116 Cell Line | EDJ-KQ29974 | Human | 8034 | Details Get a Quote |
| SLC25A16 Knockout HeLa Cell Line | EDJ-KQ29975 | Human | 8034 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
