SLC6A4 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SLC6A4 (HGNC:11050) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- solute carrier family 6 member 4
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- HTT, OCD1
- Alias symbols
- 5-HTT, SERT1
- %HI
- 4.68(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.25(Read more about gnomAD pLI score)
- LOEUF
- 0.43(Read more about gnomAD LOEUF score)
- Cytoband
- 17q11.2
- Genomic Coordinates
-
GRCh37/hg19: chr17:28521337-28562715 NCBI Ensembl UCSC GRCh38/hg38: chr17:30194319-30235697 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001045.6 ENST00000650711.1 (Read more about MANE Select)
- Function
- Serotonin transporter that cotransports serotonin with one Na(+) ion in exchange for one K(+) ion and possibly one proton in an overall electroneutral transport cycle. Transports serotonin across the plasma membrane from the extracellular compartment to the cytosol thus limiting serotonin intercellular signaling (PubMed:27756841, PubMed:34851672, PubMed:21730057, PubMed:10407194, PubMed:27049939, PubMed:12869649). Essential for serotonin homeostasis in the central nervous system. In the developi... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-28634
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
05/11/2012
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
Any evidence of involvement in autism comes from association studies, although some association studies have not reproduced well and some studies have not found evidence for association of SLC6A4 and autism (For evidence refuting the association of this gene and autism, see PMIDs: 19360675, 16616719, 15882779, 10686565).
SLC6A4 promoter polymorphisms have been associated with anxiety, obsessive-compulsive disorder, bipolar affective disorder, depression (with environmental stress), and other psychiatric phenotypes that are not appropriate for our purposes (see OMIM #182138 for more information).
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)