SLC6A3
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SLC6A3 (HGNC:11049) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
solute carrier family 6 member 3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DAT1
Alias symbols
DAT
%HI
18.93(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.39(Read more about gnomAD LOEUF score)
Cytoband
5p15.33
Genomic Coordinates
GRCh37/hg19: chr5:1392909-1445555 NCBI Ensembl UCSC
GRCh38/hg38: chr5:1392794-1445440 NCBI Ensembl UCSC
MANE Select Transcript
NM_001044.5 ENST00000270349.12 (Read more about MANE Select)
Function
Mediates sodium- and chloride-dependent transport of dopamine (PubMed:1406597, PubMed:8302271, PubMed:10375632, PubMed:11093780, PubMed:15505207, PubMed:19478460). Also mediates sodium- and chloride- dependent transport of norepinephrine (also known as noradrenaline) (By similarity). Regulator of light-dependent retinal hyaloid vessel regression, downstream of OPN5 signaling (By similarity). {ECO:0000250|UniProtKB:P23977, ECO:0000250|UniProtKB:Q61327, ECO:0000269|PubMed:1406597, ECO:0000269|PubM... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-481
ClinGen Curation ID:
CCID:007889
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • classic dopamine transporter deficiency syndrome Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000005.9) (NC_000005.10)