SLC12A3

  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SLC12A3 (HGNC:10912) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
solute carrier family 12 member 3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
NCCT, NCC, TSC
%HI
41.42(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.2(Read more about gnomAD LOEUF score)
Cytoband
16q13
Genomic Coordinates
GRCh37/hg19: chr16:56899119-56949762 NCBI Ensembl UCSC
GRCh38/hg38: chr16:56865207-56915850 NCBI Ensembl UCSC
MANE Select Transcript
NM_001126108.2 ENST00000563236.6 (Read more about MANE Select)
Function
Electroneutral sodium and chloride ion cotransporter, which acts as a key mediator of sodium and chloride reabsorption in kidney distal convoluted tubules (PubMed:21613606, PubMed:18270262, PubMed:22009145, PubMed:36351028, PubMed:36792826). Also acts as a receptor for the pro-inflammatory cytokine IL18, thereby contributing to IL18-induced cytokine production, including IFNG, IL6, IL18 and CCL2 (By similarity). May act either independently of IL18R1, or in a complex with IL18R1 (By similarity).... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-25631
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
02/23/2012

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence:
  • PUBMED: 21415153
    In 51 patients with a clinical diagnosis of Gitelman's syndrome and a demonstrated heterozygous sequence mutation, nine deletions and two duplications (22%) were detected using MLPA targeting the SLC12A3 gene
HI Evidence Comments:
Inactivating mutations of the SLC12A3 gene are the most common cause of Gitelman's syndrome (GS), a disorder inherited as an autosomal recessive trait. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence of heterozygotes is approximately 1% in Caucasian populations, making it one of the most frequent inherited renal tubular disorders (PMID:18667063). Most mutations are missense mutations substituting conserved amino acid residues within putative functional domains of the NCCT, whereas nonsense, frameshift and splice-site defects, and gene rearrangements are less frequent. It is noteworthy that in up to 40% of patients with a clinical diagnosis of Gitelman's syndrome only a single mutation is detected, instead of being compound heterozygous or homozygous (PMID:17061123).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No literature identified.

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)