SLC4A4, solute carrier family 4 member 4, 8671

N. diseases: 58; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.700 GeneticVariation disease UNIPROT Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis. 17661077 2008
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.700 GeneticVariation disease UNIPROT Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1). 16636648 2006
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.700 GeneticVariation disease UNIPROT Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis. 15713912 2005
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.700 GeneticVariation disease UNIPROT Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. 15930088 2005
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.700 GeneticVariation disease UNIPROT A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects. 15471865 2004
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.700 Biomarker disease GENOMICS_ENGLAND Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma. 11274232 2001
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.700 Biomarker disease GENOMICS_ENGLAND Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. 10545938 1999
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.700 GeneticVariation disease UNIPROT Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. 10545938 1999
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.700 CausalMutation disease CLINVAR
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.700 GeneticVariation disease CLINVAR
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.700 Biomarker disease CTD_human
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.700 GermlineCausalMutation disease ORPHANET
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
0.540 Biomarker phenotype MGD Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis. 21228764 2011
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
0.540 GeneticVariation phenotype LHGDN G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis. 18614622 2008
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
0.540 Biomarker phenotype CTD_human G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis. 18614622 2008
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
0.540 GeneticVariation phenotype LHGDN The human NBCe1-A mutant R881C, associated with proximal renal tubular acidosis, retains function but is mistargeted in polarized renal epithelia. 16707554 2006
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
0.540 Biomarker phenotype LHGDN Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. 15930088 2005
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
0.540 GeneticVariation phenotype BEFREE Mutations in the gene SLC4A4, encoding Na+-HCO3- cotransporter (NBC-1), have been found in proximal RTA with ocular abnormalities; in the gene SLC4A1, encoding Cl(-)-HCO3- exchanger (AE1), in autosomal dominant distal RTA; in the gene ATP6B1, encoding B1 subunit of H+-ATPase, in autosomal recessive distal RTA with sensorineural deafness; and in the gene CA2, encoding carbonic anhydrase II, in autosomal recessive osteopetrosis. 11045400 2000
CUI: C0268435
Disease: Renal Tubular Acidosis, Type II
Renal Tubular Acidosis, Type II
0.500 GeneticVariation disease BEFREE Alkali therapy remains the preferred treatment for pRTA, but it is unclear which nonrenal signs are secondary to acidemia and which are a direct consequence of NBCe1 loss from nonrenal sites (such as the eye and enamel organ) and therefore require separate therapy. 31040187 2019
CUI: C0268435
Disease: Renal Tubular Acidosis, Type II
Renal Tubular Acidosis, Type II
0.500 Biomarker disease BEFREE In the proximal tubule, mutations of solute carrier 4A4 (SLC4A4) (electrogenic Na<sup>+</sup>/HCO<sub>3</sub><sup>-</sup>-cotransporter Na<sup>+</sup>/bicarbonate cotransporter e1 [NBCe1]) and other genes such as CLCN5 (Cl<sup>-</sup>/H<sup>+</sup>-antiporter), SLC2A2 (GLUT2 glucose transporter), or EHHADH (enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase) causing more generalized proximal tubule dysfunction can cause proximal renal tubular acidosis resulting from bicarbonate wasting and reduced ammoniagenesis. 31300090 2019
CUI: C0268435
Disease: Renal Tubular Acidosis, Type II
Renal Tubular Acidosis, Type II
0.500 GeneticVariation disease BEFREE This is the first report of congenital proximal renal tubular acidosis carrying compound heterozygous SLC4A4 mutations in exon-intron boundary regions. 29914390 2018
CUI: C0268435
Disease: Renal Tubular Acidosis, Type II
Renal Tubular Acidosis, Type II
0.500 GeneticVariation disease BEFREE A 3D homology model predicts that Gln913 is located in the gating domain of NBCe1 and neighbours the 3D space occupied by another pRTA-associated residue (Arg881), highlighting an important and conformationally-sensitive region of NBCe1. 29449648 2018
CUI: C0268435
Disease: Renal Tubular Acidosis, Type II
Renal Tubular Acidosis, Type II
0.500 GeneticVariation disease BEFREE Proximal renal tubular acidosis (pRTA) is a rare, recessively-inherited disease characterized by abnormally acidic blood, blindness, as well as below average height and weight. pRTA is typically associated with homozygous mutation of the solute carrier 4 family gene SLC4A4. 27338124 2016
CUI: C0268435
Disease: Renal Tubular Acidosis, Type II
Renal Tubular Acidosis, Type II
0.500 GeneticVariation disease BEFREE Mutations in NBCe1 cause proximal renal tubular acidosis (pRTA) with neurologic and ophthalmologic extrarenal manifestations. 24515290 2014
CUI: C0268435
Disease: Renal Tubular Acidosis, Type II
Renal Tubular Acidosis, Type II
0.500 Biomarker disease BEFREE Slc4a4-null mice are a model of proximal renal tubular acidosis (pRTA). 24828138 2014