SLC6A4
| is a | gene |
| is | mentioned by |
| Full name | solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 |
| Other names | 5-HTT 5-HTTLPR SERT |
| EntrezGene | 6532 |
| PheGenI | 6532 |
| VariationViewer | 6532 |
| ClinVar | SLC6A4 |
| GeneCards | SLC6A4 |
| dbSNP | 6532 |
| Diseases | SLC6A4 |
| SADR | 6532 |
| HugeNav | 6532 |
| wikipedia | SLC6A4 |
| SLC6A4 | |
| gopubmed | SLC6A4 |
| EVS | SLC6A4 |
| HEFalMp | SLC6A4 |
| MyGene2 | SLC6A4 |
| 23andMe | SLC6A4 |
| UniProt | P31645 |
| Ensembl | ENSG00000108576 |
| OMIM | 182138 |
| # SNPs | 29 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1042173 | 0 | 30,197,993 | |
| rs11080122 | 0 | 30,220,317 | |
| rs12150214 | 0 | 30,223,870 | |
| rs12449783 | 0 | 30,200,635 | |
| rs140700 | 0 | 30,216,371 | |
| rs140701 | 1.5 | 30,211,514 | |
| rs16965628 | 0 | 30,228,407 | |
| rs2020933 | 0 | 30,234,737 | |
| rs2020934 | 0 | 30,234,442 | |
| rs2020936 | 0 | 30,223,796 | |
| rs2020942 | 0 | 30,219,896 | |
| rs2054847 | 0 | 30,204,995 | |
| rs2066713 | 0 | 30,224,647 | |
| rs25528 | 0 | 30,222,960 | |
| rs25531 | 2.5 | 30,237,328 | |
| rs25532 | 0 | 30,237,152 | |
| rs25533 | 0 | 30,235,874 | |
| rs28914832 | 0 | 30,211,356 | |
| rs34388196 | 0 | 30,207,451 | |
| rs3794808 | 0 | 30,204,775 | |
| rs3813034 | 0 | 30,197,786 | |
| rs4251417 | 0 | 30,224,840 | |
| rs4583306 | 0 | 30,211,697 | |
| rs4795541 | 0 | 30,237,299 | |
| rs57098334 | 0 | 30,221,570 | |
| rs6354 | 0 | 30,222,880 | |
| rs8071667 | 0 | 30,225,755 | |
| rs8076005 | 0 | 30,220,192 | |
| rs956304 | 0 | 30,236,544 |
The SLC6A4 gene encodes the serotonin transporter, a membrane protein that takes up serotonin in pre-synaptic neurons. SLC6A4 is also known as SERT or 5-HTT, since serotonin is known chemically as 5-hydroxytryptamine. The serotonin system has been studied in many behavioural and physiological conditions.
A wide range of psychiatric disorders or conditions may involve serotonin processing. The main variants of the SLC6A4 gene that have been studied, however, are not SNPs - they are short tandem repeats, also known as VNTRs (variable number tandem repeats). A review of the two VNTR polymorphisms and their potential links to human behaviour is available. [PMID 17168841]
One such polymorphism is known as the 5-HTTLPR variant, where the L allele consists of a 44bp insertion as compared to the S (short or deletion) allele. Another polymorphism is the STin2 (intron 2) VNTR, which involves different alleles that correspond to 12-, 10-, 9-, or 7-repeat units of 17bp. Both of these polymorphisms have been associated in some cases (but not others) with obsessive-compulsive disorder (OCD). Most recently, the STin2.12 carriers were reported to be at over 3x risk of OCD based on a study of ~100 OCD patients.[PMID 18191318]
The efficacy of commonly prescribed antidepressant drugs, such as paroxetine, has also been linked to SLC6A4 VNTR variants.10.1038/sj.tpj.6500491
A few SNPs have been studied; these include:
AVPR1a and SLC6A4 Gene Polymorphisms Are Associated with Creative Dance Performance
