SLC12A2 Chromosome 5
Solute carrier family 12 member 2
Upload your DNA to see your personal genotypes for variants in SLC12A2.
What This Gene Does
The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|Solute carrier family 12"
Locus Type
gene with protein product
Location
5q23.3
Ensembl
ENSG00000064651
Associated Conditions (10)
Inborn genetic diseases
Kilquist syndrome
Hearing loss
autosomal dominant 78
Delpire-McNeill syndrome
SLC12A2-related disorder
Profound global developmental delay
See cases
Infant onset multiple organ failure
Sensorineural hearing loss disorder
Key Variants
RS114437564
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1189842719
Conflicting classifications of pathogenicity
Health Risk
RS145196893
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145906084
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146145321
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146381223
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149957408
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201256664
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201608609
Conflicting classifications of pathogenicity
Kilquist syndrome, Hearing loss, autosomal dominant 78
Health Risk
RS368335273
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS372863815
Conflicting classifications of pathogenicity
Health Risk
RS374181175
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (43)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114437564 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1189842719 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145196893 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145906084 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146145321 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146381223 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149957408 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201256664 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201608609 | Health Risk | Conflicting classifications of pathogenicity | Kilquist syndrome, Hearing loss, autosomal dominant 78 |
| RS368335273 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372863815 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374181175 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS529490835 | Health Risk | Conflicting classifications of pathogenicity | Kilquist syndrome, Inborn genetic diseases, Kilquist syndrome |
| RS532290202 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS746633185 | Health Risk | Conflicting classifications of pathogenicity | Delpire-McNeill syndrome, Hearing loss, autosomal dominant 78 |
| RS751759733 | Health Risk | Conflicting classifications of pathogenicity | Kilquist syndrome, Hearing loss, autosomal dominant 78 |
| RS756517331 | Health Risk | Conflicting classifications of pathogenicity | SLC12A2-related disorder, SLC12A2-related disorder |
| RS770832467 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS774885519 | Health Risk | Conflicting classifications of pathogenicity | Kilquist syndrome, Inborn genetic diseases, Kilquist syndrome |
| RS775078728 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS776231534 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777580088 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Kilquist syndrome, Inborn genetic diseases |
| RS1326445668 | Health Risk | Likely pathogenic | Kilquist syndrome, Kilquist syndrome |
| RS1762648883 | Health Risk | Likely pathogenic | Profound global developmental delay, Profound global developmental delay |
| RS2126697261 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2479357233 | Health Risk | Likely pathogenic | SLC12A2-related disorder, SLC12A2-related disorder |
| RS2479439728 | Health Risk | Likely pathogenic | Delpire-McNeill syndrome, Delpire-McNeill syndrome |
| RS886040968 | Health Risk | Likely pathogenic | Infant onset multiple organ failure, Infant onset multiple organ failure |
| RS116621105 | Health Risk | Pathogenic | Delpire-McNeill syndrome, Delpire-McNeill syndrome |
| RS1581138934 | Health Risk | Pathogenic | Hearing loss, autosomal dominant 78, Hearing loss |
| RS1581138965 | Health Risk | Pathogenic | Sensorineural hearing loss disorder, Sensorineural hearing loss disorder |
| RS1759998554 | Health Risk | Pathogenic | Delpire-McNeill syndrome, Delpire-McNeill syndrome |
| RS1761279419 | Health Risk | Pathogenic | Delpire-McNeill syndrome, Delpire-McNeill syndrome |
| RS1762258987 | Health Risk | Pathogenic | Kilquist syndrome, Kilquist syndrome |
| RS1762648450 | Health Risk | Pathogenic | Kilquist syndrome, Kilquist syndrome |
| RS1763249655 | Health Risk | Pathogenic | Delpire-McNeill syndrome, Delpire-McNeill syndrome |
| RS1763563407 | Health Risk | Pathogenic | Hearing loss, autosomal dominant 78, Hearing loss |
| RS2479356950 | Health Risk | Pathogenic | SLC12A2-related disorder, SLC12A2-related disorder |
| RS2479429305 | Health Risk | Pathogenic | — |
| RS2479456601 | Health Risk | Pathogenic | Kilquist syndrome, Kilquist syndrome |
| RS1581138932 | Health Risk | Pathogenic; association | Hearing loss, autosomal dominant 78, Hearing loss |
| RS1581138944 | Health Risk | Pathogenic; association | Hearing loss, autosomal dominant 78, Hearing loss |
| RS1763801693 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, SLC12A2-related disorder, Inborn genetic diseases |