GENE REFERENCE / HGNC:11027

SLC4A1

solute carrier family 4 member 1 (Diego blood group)

protein-coding gene17q21.31Gene information

What does this gene do?

The SLC4A1 gene provides instructions for making a protein known as anion exchanger 1 (AE1). This protein transports negatively charged atoms (anions) across cell membranes. Specifically, AE1 exchanges negatively charged atoms of chlorine (chloride ions) for negatively charged bicarbonate molecules (bicarbonate ions). Based on this function, AE1 is known as a chloride/bicarbonate exchanger (Cl^-/HCO₃^- exchanger). The main function of this exchanger is to maintain the correct acid levels (pH) in the body.

There are two versions of the AE1 protein that differ in size. The shorter version is found in specialized kidney cells, called alpha-intercalated cells, that line structures in the kidney called renal tubules. The renal tubules reabsorb substances that are needed and eliminate unneeded substances in urine. Specifically, alpha-intercalated cells release acid into the urine to be removed from the body. In alpha-intercalated cells, the exchange of bicarbonate through the AE1 protein allows acid to be released from the cell into the urine.

The longer version of AE1 is found in red blood cells. In addition to exchanging ions, the longer AE1 protein attaches to other proteins that make up the structural framework (the cytoskeleton) of red blood cells, helping to maintain their structure. In red blood cells, the AE1 protein can interact with another protein called glycophorin A, which helps ensure AE1 gets moved (trafficked) to the correct location of the cell. Glycophorin A is not found in kidney cells.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-05-02. Source review: 2014-08.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
renal tubular acidosis, distal, 4, with hemolytic anemiaMONDO:0012700 · Evaluated 2021-06-02	Autosomal recessive	DefinitiveTubulopathy Gene Curation Expert Panel
autosomal dominant distal renal tubular acidosisMONDO:0008368 · Evaluated 2021-06-02	Autosomal dominant	DefinitiveTubulopathy Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 1,064
Submissions for variants in or overlapping this gene: 2,215
Submissions explicitly reporting this gene: 2,161
Alleles reported pathogenic / likely pathogenic: 243
VariationIDs with uncertain significance: 476
VariationIDs with conflicting classifications: 87

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about SLC4A1?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 243 alleles in SLC4A1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in SLC4A1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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