SLC10A4: Solute Carrier Family 10 Member 4
A sodium/bile acid cotransporter family member with roles in cholinergic neurotransmission and potential links to neurological disorders
Gene Information Card
| Symbol | SLC10A4 |
|---|---|
| Full Name | Solute carrier family 10 member 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p15.31 |
| NCBI Gene ID | 201780 ncbi.nlm.nih.gov/gene/201780 |
| Ensembl ID | ENSG00000164111 |
| UniProt ID | Q96S99 |
| OMIM ID | 611485 |
| HGNC ID | 22983 |
| Aliases | P4, SLC10A4 |
Description
SLC10A4 (Solute Carrier Family 10 Member 4) is a protein-coding gene that belongs to the sodium/bile acid cotransporter family. It is predominantly expressed in cholinergic neurons and is involved in the transport of small molecules, potentially including bile acids and neurotransmitters. The protein localizes to synaptic vesicles and may play a role in cholinergic neurotransmission. SLC10A4 has been implicated in neurological and psychiatric disorders, including Parkinson's disease and schizophrenia, based on genetic association studies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Parkinson's disease | Potential involvement in cholinergic dysfunction; SLC10A4 variants may alter synaptic vesicle transport | Genetic association studies (PMID: 23462520) |
| Schizophrenia | Association with SLC10A4 polymorphisms affecting cholinergic signaling | Genetic association studies (PMID: 21572416) |
| Bipolar disorder | Possible link through cholinergic system modulation | Genetic association studies (PMID: 21572416) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Spinal cord | 6.5 | Medium |
| Testis | 1.3 | Low |
| Adrenal gland | 0.8 | Low |
| Thyroid | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 12.4 | Neuroblastoma cell line; high expression |
| SK-N-SH | 9.8 | Neuroblastoma cell line; moderate expression |
| HEK293 | 0.2 | Low expression |
| HeLa | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs4148217 | SNP | 0.15 (1000 Genomes) | Intronic variant; potential regulatory effect |
| rs1709184 | SNP | 0.22 (1000 Genomes) | Intronic variant; associated with schizophrenia in some studies |
| c.112G>A (p.Gly38Arg) | Missense | Rare | Substitution in transmembrane domain; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in SLC10A4.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • bile acid:sodium symporter activity (GO:0008508) | • symporter activity (GO:0015293) |
| • bile acid transport (GO:0015721) | • integral component of membrane (GO:0016021) |
| • synapse (GO:0045202) | • synaptic vesicle (GO:0008021) |
Pathways
• Bile acid and bile salt metabolism (Reactome: R-HSA-194068)
• Transport of small molecules (Reactome: R-HSA-382551)
Protein Summary
The SLC10A4 protein (UniProt Q96S99) is a 476-amino acid transmembrane protein with 7 predicted transmembrane domains. It functions as a sodium-dependent transporter, likely for bile acids and other small molecules. The protein is enriched in synaptic vesicles of cholinergic neurons, suggesting a role in neurotransmitter storage or release. Structural studies indicate a conserved sodium-binding motif typical of the SLC10 family.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC10A4 Knockout HEK293 Cell Line | EDJ-KQ4975 | Human | 201780 | Details Get a Quote |
| SLC10A4 Knockout A-549 Cell Line | EDJ-KQ27861 | Human | 201780 | Details Get a Quote |
| SLC10A4 Knockout HCT 116 Cell Line | EDJ-KQ27862 | Human | 201780 | Details Get a Quote |
| SLC10A4 Knockout HeLa Cell Line | EDJ-KQ59026 | Human | 201780 | Details Get a Quote |
