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Gene

SLC4A1

solute carrier family 4 member 1 (Diego blood group)

Summary

Cytogenetic location
17q21.31
Coordinates
Chromosome 17: 44,248,390–44,268,135 (GRCh38)
Exons
20 exons across 19.7 kb
Protein
911 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
RTA1A, CD233, FR, SW, WR, EMPB3
Previous symbols
EPB3, AE1, DI, WD
MANE Select transcript
ENST00000262418.12NM_000342.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Hereditary Spherocytosis

    • Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Folic acid supplementation; splenectomy for moderate-severe disease (partial or total); pre-splenectomy vaccination; cholecystectomy for gallstones; transfusion support during aplastic crises; monitoring for parvovirus B19

  • Red Blood Cell Membrane Disorders

    • CryohydrocytosisAutosomal dominant

      A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.

      • 1 GenCC submitter rates it definitive or strong
    • Hereditary ElliptocytosisAutosomal dominant

      Inherited changes in red cell skeleton proteins, mainly encoded by SPTA1, SPTB or EPB41, that make red cells oval or elongated; most people have no symptoms, but some have haemolytic anaemia.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing about it explains unusual blood film findings and guides management of anaemia where present.

    • Hereditary StomatocytosisAutosomal dominant

      A group of conditions in which red cells leak or gain water and salts, including dehydrated hereditary stomatocytosis (PIEZO1, KCNN4), overhydrated stomatocytosis (RHAG), Southeast Asian ovalocytosis and Rh-deficiency syndrome, causing haemolytic anaemia of varying severity and sometimes iron overload.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Spleen removal should be avoided because it raises the risk of serious blood clots in these conditions.

  • Renal Tubular Acidosis

    • Distal Renal Tubular AcidosisAutosomal recessive

      An inherited inability of the kidney's collecting ducts to excrete acid, caused by variants in SLC4A1, ATP6V1B1, ATP6V0A4 and other genes; some forms also cause hearing loss.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Alkali treatment can prevent kidney calcification and growth problems, and some forms warrant a hearing assessment.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How SLC4A1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where SLC4A1 sits. SLC4A1 and 28 genes near it on chromosome 17, from 43,758,263 to 44,758,262.Chromosome 1717q21.31p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.343.8 Mb44 Mb44.2 Mb44.4 Mb44.6 MbSOST: 43,753,738–43,758,791, reverse strandSOSTDUSP3: 43,763,629–43,779,000, reverse strandDUSP3CFAP97D1: 43,780,426–43,787,620, forward strandCFAP97D1MPP3: 43,800,795–43,833,203, reverse strandMPP3CD300LG: 43,847,114–43,863,639, forward strandCD300LGMPP2: 43,875,352–43,909,711, reverse strandMPP2PPY: 43,940,804–43,952,444, reverse strandPPYPYY: 43,952,733–44,004,469, reverse strandPYYNAGS: 44,004,581–44,011,213, forward strandNAGSTMEM101: 44,008,986–44,023,946, reverse strandTMEM101LSM12: 44,033,931–44,067,619, reverse strandLSM12G6PC3: 44,070,620–44,094,678, forward strandG6PC3HDAC5: 44,076,746–44,123,702, reverse strandHDAC5HROB: 44,141,903–44,162,481, forward strandHROBASB16: 44,170,447–44,179,373, forward strandASB16TMUB2: 44,186,955–44,191,931, forward strandTMUB2ATXN7L3: 44,191,804–44,200,961, reverse strandATXN7L3UBTF: 44,205,033–44,221,626, reverse strandUBTFSLC4A1: 44,248,390–44,268,135, reverse strandSLC4A1RUNDC3A: 44,307,945–44,318,675, forward strandRUNDC3ASLC25A39: 44,316,821–44,326,639, reverse strandSLC25A39GRN: 44,345,108–44,353,106, forward strandGRNFAM171A2: 44,353,215–44,363,875, reverse strandFAM171A2ITGA2B: 44,372,177–44,389,649, reverse strandITGA2BGPATCH8: 44,395,281–44,503,639, reverse strandGPATCH8FZD2: 44,557,484–44,561,262, forward strandFZD2MEIOC: 44,656,363–44,690,308, forward strandMEIOCCCDC43: 44,671,063–44,689,831, reverse strandCCDC43DBF4B: 44,708,595–44,752,269, forward strandDBF4BDiagram of SLC4A1: 20 exons on the reverse strand of chromosome 17Exon 20: 4 known disease-causing sitesExon 19: 3 known disease-causing sitesExon 18: 3 known disease-causing sitesExon 17: 12 known disease-causing sitesExon 16: 1 known disease-causing siteExon 15: 6 known disease-causing sitesExon 14: 2 known disease-causing sitesExon 13: 6 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 11: 7 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 9: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 20: 44,248,390–44,250,538, 2,149 basesExon 19: 44,251,159–44,251,332, 174 basesExon 18: 44,251,419–44,251,588, 170 basesExon 17: 44,253,118–44,253,371, 254 basesExon 16: 44,254,496–44,254,662, 167 basesExon 15: 44,255,207–44,255,296, 90 basesExon 14: 44,255,673–44,255,846, 174 basesExon 13: 44,257,350–44,257,544, 195 basesExon 12: 44,257,659–44,257,807, 149 basesExon 11: 44,257,986–44,258,180, 195 basesExon 10: 44,258,413–44,258,623, 211 basesExon 9: 44,259,163–44,259,344, 182 basesExon 8: 44,259,497–44,259,581, 85 basesExon 7: 44,259,809–44,259,932, 124 basesExon 6: 44,260,404–44,260,539, 136 basesExon 5: 44,260,635–44,260,815, 181 basesExon 4: 44,261,575–44,261,636, 62 basesExon 3: 44,262,636–44,262,726, 91 basesExon 2: 44,262,852–44,262,934, 83 basesExon 1: 44,268,054–44,268,135, 82 bases201816141210864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 5 kb of the gene's 19.7 kb; 2,736 of those bases code for the protein.

How a genome test reads SLC4A1

59

positions in SLC4A1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 19.7 kb of SLC4A1, introns included, not only the 5 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SLC4A1 gene: solute carrier family 4 member 1 (Diego blood group). Retrieved 17 October 2026, from https://dantelabs.com/genes/slc4a1

Vancouver

Dante Labs. SLC4A1 gene: solute carrier family 4 member 1 (Diego blood group) [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc4a1

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