SLC22A18

  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SLC22A18 (HGNC:10964) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
solute carrier family 22 member 18
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
ORCTL2, BWSCR1A, IMPT1, SLC22A1L
Alias symbols
BWR1A, TSSC5, ITM
%HI
68.74(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.16(Read more about gnomAD LOEUF score)
Cytoband
11p15.4
Genomic Coordinates
GRCh37/hg19: chr11:2920921-2946476 NCBI Ensembl UCSC
GRCh38/hg38: chr11:2899691-2925246 NCBI Ensembl UCSC
MANE Select Transcript
NM_002555.6 ENST00000649076.2 (Read more about MANE Select)
Function
May act as a transporter of organic cations based on a proton efflux antiport mechanism. May play a role in the transport of chloroquine and quinidine-related compounds in kidney. {ECO:0000269|PubMed:9744804}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-7112
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
03/22/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)