• 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)