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)
Triplosensitivity:
Not Yet Evaluated
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)