SLC7A9
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SLC7A9 (HGNC:11067) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
solute carrier family 7 member 9
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CSNU3
Alias symbols
BAT1
%HI
61.03(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.91(Read more about gnomAD LOEUF score)
Cytoband
19q13.11
Genomic Coordinates
GRCh37/hg19: chr19:33321417-33360673 NCBI Ensembl UCSC
GRCh38/hg38: chr19:32830511-32869767 NCBI Ensembl UCSC
MANE Select Transcript
NM_014270.5 ENST00000023064.9 (Read more about MANE Select)
Function
Associates with SLC3A1 to form a functional transporter complex that mediates the electrogenic exchange between cationic amino acids and neutral amino acids, with a stoichiometry of 1:1 (PubMed:8663357, PubMed:16825196, PubMed:32817565, PubMed:32494597). Has system b(0,+)-like activity with high affinity for extracellular cationic amino acids and L-cystine and lower affinity for intracellular neutral amino acids (PubMed:8663357, PubMed:16825196, PubMed:32494597). Substrate exchange is driven by ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-4092
ClinGen Curation ID:
CCID:007893
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/23/2021

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Cystinuria is a metabolic disorder of impaired cystine and dibasic amino acid transport caused by mutations in either the SLC3A1 and/or SLC7A9 genes (both genes encode components of the transporter complex rBAT/b0,+AT). Most affected patients have bi-allelic mutations leading to impaired renal reabsorption of cystine, causing formation of calculi (stones) in the renal and urinary tracts; rarely this may lead to renal failure. Heterozygous SLC7A9 mutation carriers with cystinuria are also reported in the literature (2 deletions reported by Schmidt et al., 2003, PMID 14531788). Such mutations are considered to be dominant-acting, but with incomplete penetrance. The mechanism of pathogenicity in these cases is unknown.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000019.9) (NC_000019.10)