SLC4A1
is a | gene |
is | mentioned by |
Full name | solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) |
EntrezGene | 6521 |
PheGenI | 6521 |
VariationViewer | 6521 |
ClinVar | SLC4A1 |
GeneCards | SLC4A1 |
dbSNP | 6521 |
Diseases | SLC4A1 |
SADR | 6521 |
HugeNav | 6521 |
wikipedia | SLC4A1 |
SLC4A1 | |
gopubmed | SLC4A1 |
EVS | SLC4A1 |
HEFalMp | SLC4A1 |
MyGene2 | SLC4A1 |
23andMe | SLC4A1 |
UniProt | P02730 |
Ensembl | ENSG00000004939 |
OMIM | 109270 |
# SNPs | 39 |
Max Magnitude | Chromosome position | Summary | |
---|---|---|---|
rs1057518222 | 0 | 44,259,839 | |
rs121912740 | 0 | 44,254,581 | |
rs121912741 | 0 | 44,251,588 | |
rs121912742 | 0 | 44,258,512 | |
rs121912743 | 0 | 44,255,804 | |
rs121912744 | 0 | 44,255,707 | |
rs121912745 | 0 | 44,255,708 | |
rs121912746 | 0 | 44,255,259 | |
rs121912747 | 0 | 44,255,708 | |
rs121912748 | 0 | 44,253,327 | |
rs121912749 | 0 | 44,260,501 | |
rs121912750 | 0 | 44,251,305 | |
rs121912751 | 0 | 44,251,241 | |
rs121912752 | 0 | 44,251,264 | |
rs121912753 | 0 | 44,251,583 | |
rs121912754 | 0 | 44,255,292 | |
rs121912755 | 0 | 44,253,150 | |
rs121912756 | 0 | 44,257,538 | |
rs121912757 | 0 | 44,254,616 | |
rs121912758 | 0 | 44,254,617 | |
rs121912759 | 0 | 44,251,211 | |
rs2072081 | 0 | 44,250,125 | |
rs2285644 | 1 | 44,251,253 | |
rs28929480 | 0 | 44,260,716 | |
rs28931583 | 0 | 44,258,520 | |
rs28931584 | 0 | 44,257,514 | |
rs28931585 | 0 | 44,251,206 | |
rs387906565 | 0 | 44,262,928 | |
rs387906566 | 0 | 44,251,435 | |
rs45562031 | 0 | 44,261,625 | |
rs5023 | 0 | 44,253,361 | |
rs5036 | 2 | 44,261,577 | |
rs56361140 | 0 | 44,260,441 | |
rs75731670 | 0 | 44,254,581 | |
rs769664228 | 0 | 44,258,043 | |
rs863225461 | 0 | 44,253,238 | |
rs863225462 | 0 | 44,253,228 | |
rs863225463 | 0 | 44,253,369 | |
rs878853002 | 0 | 44,255,272 |
SLC4A1, solute carrier family 4 member 1 is a Band 3 anion transport protein also called anion exchanger 1 (AE1) or Band 3. Different isoforms in kidney and red blood cells lead to the Diego antigen blood group. There are 21 antigens: Di-b is common in all populations (see rs2285644), but Di-a only occurs in some indigenous peoples, and the rest are rare. No cases have been found lacking any Diego antigen.
Mutations affect kidney function, immunity, and blood compatibility.
10.1371/journal.pmed.1001305 The erythrocyte polymorphism, Southeast Asian ovalocytosis (SAO) (which results from a 27-base pair deletion in the erythrocyte band 3 gene, SLC4A1Δ27) protects against cerebral malaria caused by Plasmodium falciparum; however, it is unknown whether this also protects against P. vivax.