SLC6A14 (Solute Carrier Family 6 Member 14) Gene
A comprehensive biomedical overview of the SLC6A14 gene, including genomic context, expression, disease associations, and functional annotations.
Gene Information Card
| Symbol | SLC6A14 |
|---|---|
| Full Name | Solute carrier family 6 member 14 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq23 |
| NCBI Gene ID | 11254 ncbi.nlm.nih.gov/gene/11254 |
| Ensembl ID | ENSG00000144668 |
| UniProt ID | Q9UN76 |
| OMIM ID | 300266 |
| HGNC ID | 11047 |
| Aliases | ATB(0,+) |
Description
SLC6A14 encodes a sodium- and chloride-dependent neutral and basic amino acid transporter, belonging to the solute carrier family 6. It is localized to the plasma membrane and plays a role in amino acid uptake, particularly in epithelial tissues. The gene is located on the X chromosome and has been implicated in various physiological and pathological processes, including cancer and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Altered amino acid transport may influence metabolic pathways and energy homeostasis. | Association studies and functional analyses (PMID: 23643377) |
| Colorectal cancer | Overexpression of SLC6A14 in tumors may provide a growth advantage by increasing amino acid supply. | Expression profiling and functional studies (PMID: 25873156) |
| Autism spectrum disorder | Potential involvement in neurotransmitter precursor transport, affecting neurodevelopment. | Genetic association studies (PMID: 21572415) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 9.6 | Low |
| Salivary gland | 8.3 | Low |
| Small intestine | 7.2 | Low |
| Colon | 6.1 | Low |
| Kidney | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A-549 (lung carcinoma) | 5.2 | Detectable |
| Caco-2 (colorectal adenocarcinoma) | 4.8 | Detectable |
| MCF7 (breast cancer) | 3.1 | Low |
| HepG2 (hepatocellular carcinoma) | 2.5 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.145C>T (p.Arg49Ter) | Nonsense | Rare | Loss of function; may lead to reduced amino acid transport |
| c.128G>A (p.Arg43His) | Missense | Rare | Potential impact on substrate affinity or transport activity |
| c.1022A>G (p.Asn341Ser) | Missense | Rare | Unknown functional consequence |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations such as p.Arg49Ter are predicted to result in a truncated protein, leading to loss of transport function.
Gain of Function (GOF)
No gain-of-function mutations have been reported in SLC6A14.
Dominant Negative (DN)
No dominant-negative effects have been documented for SLC6A14 mutations.
View complete mutation data：
Gene Ontology (GO)
| • amino acid transmembrane transporter activity | • symporter activity |
| • plasma membrane | • integral component of membrane |
| • amino acid transport | • sodium ion transport |
Pathways
• Amino acid transport across the plasma membrane
• Solute carrier (SLC) transporter family pathways
Protein Summary
The SLC6A14 protein is a 679-amino acid transporter with 12 transmembrane domains. It mediates the uptake of neutral and cationic amino acids, including tryptophan, in a sodium- and chloride-dependent manner. It is expressed in various epithelial tissues and has been implicated in cancer cell proliferation and metabolic regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC6A14 Knockout HEK293 Cell Line | EDJ-KQ7352 | Human | 11254 | Details Get a Quote |
| SLC6A14 Knockout HeLa Cell Line | EDJ-KQ55613 | Human | 11254 | Details Get a Quote |
| SLC6A14 Knockout A-549 Cell Line | EDJ-KQ64112 | Human | 11254 | Details Get a Quote |
| SLC6A14 Knockout HCT 116 Cell Line | EDJ-KQ72557 | Human | 11254 | Details Get a Quote |
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