SLC4A1

solute carrier family 4 member 1 (Diego blood group)

Summary

The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008]

Known Variants557 total

rsidPosition (GRCh37)AllelesClassClinVar
rs6129037217:42,325,410G/Adownstream gene variant—
rs56512888517:42,325,893C/T—likely benign
rs88605298817:42,325,994C/T—uncertain significance
rs14378544217:42,326,034C/T—likely benign
rs94110631117:42,326,035G/A—uncertain significance
rs89681776317:42,326,060G/A—uncertain significance
rs6207894717:42,326,105C/T—benign
rs204731455517:42,326,133C/T—uncertain significance
rs74589881017:42,326,150T/C—uncertain significance
rs103919329517:42,326,217G/A—uncertain significance
rs88605299017:42,326,230T/G—uncertain significance
rs503317:42,326,258C/T—benign
rs89138296117:42,326,417A/G—uncertain significance
rs13930866017:42,326,433T/A—conflicting classifications of pathogenicity
rs88605299117:42,326,510G/A—uncertain significance
rs56613899617:42,326,521C/T—uncertain significance
rs76914013417:42,326,553C/A—uncertain significance
rs77451376717:42,326,589G/A—likely benign
rs14142553917:42,326,599T/G—likely benign
rs88605299217:42,326,628T/A—uncertain significance
rs204732005617:42,326,779A/G—uncertain significance
rs55754988817:42,326,794G/A—uncertain significance
rs87899819817:42,326,842A/C—uncertain significance
rs88605299317:42,326,849C/T—uncertain significance
rs36838994817:42,326,879G/C—likely benign
rs105113590617:42,326,890C/A—uncertain significance
rs503017:42,326,929C/T—benign
rs88605299417:42,326,954C/G—uncertain significance
rs76396131617:42,327,073G/A—uncertain significance
rs117426987217:42,327,081C/T—uncertain significance
rs1330677917:42,327,125G/C—uncertain significance
rs105465364117:42,327,177C/T—uncertain significance
rs98810533417:42,327,202C/T—uncertain significance
rs91031184317:42,327,282G/A—uncertain significance
rs95120786817:42,327,395A/G—uncertain significance
rs4555573517:42,327,418G/A—likely benign
rs104641379117:42,327,470C/G—uncertain significance
rs57158124717:42,327,473C/G—uncertain significance
rs13824201917:42,327,475C/A—conflicting classifications of pathogenicity
rs146520417:42,327,477C/T—benign
rs1330677717:42,327,491C/T—benign
rs207208117:42,327,493G/Tupstream gene variantbenign
rs502717:42,327,556C/T—benign
rs204732581717:42,327,561T/G—uncertain significance
rs56674151117:42,327,691C/T—benign
rs75890185817:42,327,772T/C—uncertain significance
rs74842866317:42,327,821G/A—conflicting classifications of pathogenicity
rs20143383317:42,327,827C/T—likely benign
rs78060896517:42,327,832A/G—likely benign
rs204732840517:42,327,836A/G—pathogenic
rs250995742617:42,327,845T/A—uncertain significance
rs19969408717:42,327,846C/A—likely pathogenic
rs77613074017:42,327,849C/G—uncertain significance
rs4551973317:42,327,850G/A—likely pathogenic
rs18930076217:42,327,860C/G—uncertain significance
rs20126516017:42,327,861G/A—conflicting classifications of pathogenicity
rs37338852117:42,327,868C/T—likely benign
rs214459480717:42,327,870C/A—pathogenic
rs4549799317:42,327,874A/G—benign
rs26760489917:42,327,903C/G—uncertain significance
rs15034015017:42,327,906G/T—conflicting classifications of pathogenicity
rs53126939617:42,327,923G/C—benign
rs143610409217:42,328,538C/A—uncertain significance
rs76736492717:42,328,541C/T—uncertain significance
rs76591114717:42,328,552A/G—conflicting classifications of pathogenicity
rs20224380817:42,328,557C/T—conflicting classifications of pathogenicity
rs74733720217:42,328,568C/T—uncertain significance
rs78139679317:42,328,570C/T—uncertain significance
rs87919153417:42,328,571G/A—uncertain significance
rs2893158517:42,328,574G/Amissense variantpathogenic
rs77039397117:42,328,578C/T—likely benign
rs12191275917:42,328,579G/Amissense variantpathogenic
rs250995832417:42,328,593G/A—likely benign
rs148518759617:42,328,596G/T—uncertain significance
rs502617:42,328,598C/T—benign
rs12191275117:42,328,609G/Tmissense variantpathogenic
rs204733642717:42,328,612A/G—uncertain significance
rs228564417:42,328,621G/Amissense variantpathogenic
rs75335759917:42,328,635C/T—conflicting classifications of pathogenicity
rs75441686017:42,328,640A/G—uncertain significance
rs13897422217:42,328,641C/T—likely benign
rs78165067617:42,328,662C/G—uncertain significance
rs250995847217:42,328,663T/C—uncertain significance
rs204733714417:42,328,672G/A—pathogenic
rs12191275017:42,328,673T/Cmissense variantpathogenic
rs214459654317:42,328,674G/T—uncertain significance
rs214459656917:42,328,681T/G—pathogenic
rs502517:42,328,687C/T—likely benign
rs57137637117:42,328,688G/T—conflicting classifications of pathogenicity
rs250995852217:42,328,690C/T—likely pathogenic
rs37351714617:42,328,691A/G—uncertain significance
rs37172803617:42,328,707G/A—likely benign
rs77214071217:42,328,708C/T—likely benign
rs88605299517:42,328,709G/A—uncertain significance
rs250995854717:42,328,711A/C—uncertain significance
rs37549326117:42,328,713G/T—likely benign
rs138399729117:42,328,782T/G—uncertain significance
rs250995866617:42,328,786C/T—likely pathogenic
rs75648731517:42,328,788C/T—uncertain significance
rs250995868617:42,328,793G/C—likely benign

Showing 100 of 557 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.