SLC4A4 Chromosome 4
Solute carrier family 4 member 4
Upload your DNA to see your personal genotypes for variants in SLC4A4.
What This Gene Does
This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Solute carrier family 4
Locus Type
gene with protein product
Location
4q13.3
Ensembl
ENSG00000080493
Associated Conditions (11)
Autosomal recessive proximal renal tubular acidosis
SLC4A4-related disorder
Malignant tumor of urinary bladder
Inborn genetic diseases
Thyroid cancer
nonmedullary
1
Gastric cancer
Hepatocellular carcinoma
Clear cell carcinoma of kidney
Cervical cancer
Key Variants
RS1252177878
Conflicting classifications of pathogenicity
Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
Health Risk
RS137982286
Conflicting classifications of pathogenicity
Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
Health Risk
RS138942006
Conflicting classifications of pathogenicity
Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
Health Risk
RS139191615
Conflicting classifications of pathogenicity
Autosomal recessive proximal renal tubular acidosis, SLC4A4-related disorder, Malignant tumor of urinary bladder
Health Risk
RS140882617
Conflicting classifications of pathogenicity
Autosomal recessive proximal renal tubular acidosis, Inborn genetic diseases, SLC4A4-related disorder
Health Risk
RS143924311
Conflicting classifications of pathogenicity
Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
Health Risk
RS145378038
Conflicting classifications of pathogenicity
Autosomal recessive proximal renal tubular acidosis, SLC4A4-related disorder, Thyroid cancer
Health Risk
RS145739451
Conflicting classifications of pathogenicity
Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
Health Risk
RS146008079
Conflicting classifications of pathogenicity
Autosomal recessive proximal renal tubular acidosis, SLC4A4-related disorder, Autosomal recessive proximal renal tubular acidosis
Health Risk
RS147651604
Conflicting classifications of pathogenicity
Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
Health Risk
RS147661107
Conflicting classifications of pathogenicity
Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
Health Risk
RS148889712
Conflicting classifications of pathogenicity
Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1252177878 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis |
| RS137982286 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis |
| RS138942006 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis |
| RS139191615 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, SLC4A4-related disorder, Malignant tumor of urinary bladder |
| RS140882617 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, Inborn genetic diseases, SLC4A4-related disorder |
| RS143924311 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis |
| RS145378038 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, SLC4A4-related disorder, Thyroid cancer |
| RS145739451 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis |
| RS146008079 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, SLC4A4-related disorder, Autosomal recessive proximal renal tubular acidosis |
| RS147651604 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis |
| RS147661107 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis |
| RS148889712 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis |
| RS149802590 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis |
| RS181184794 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis |
| RS200126485 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis |
| RS200226048 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, Inborn genetic diseases, Autosomal recessive proximal renal tubular acidosis |
| RS201092552 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis |
| RS201133749 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis |
| RS201149572 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis |
| RS2475717504 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS35891845 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis |
| RS41265669 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis |
| RS550285672 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis |
| RS72650362 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, SLC4A4-related disorder, Gastric cancer |
| RS771339934 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis |
| RS779558159 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive proximal renal tubular acidosis, SLC4A4-related disorder, Autosomal recessive proximal renal tubular acidosis |
| RS1725958418 | Health Risk | Likely pathogenic | Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis |
| RS752089136 | Health Risk | Likely pathogenic | SLC4A4-related disorder, SLC4A4-related disorder |
| RS778804628 | Health Risk | Likely pathogenic | Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis |
| RS786205569 | Health Risk | Likely pathogenic | — |
| RS121908856 | Health Risk | Pathogenic | Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis |
| RS121908857 | Health Risk | Pathogenic | Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis |
| RS121908858 | Health Risk | Pathogenic | Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis |
| RS1553913019 | Health Risk | Pathogenic | Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis |