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:
- Gitelman syndrome Monarch
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)