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Gene

SLC4A3

solute carrier family 4 member 3

Summary

Cytogenetic location
2q35
Coordinates
Chromosome 2: 219,627,630–219,641,971 (GRCh38)
Exons
23 exons across 14.3 kb
Protein
1,232 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
AE3, SLC2C
MANE Select transcript
ENST00000358055.8NM_005070.4
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

  • 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.

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

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

  • Short Qt Syndrome

    • Autosomal dominant

      A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified

      • ClinGen rates the link moderate
      • 2 GenCC submitters rate it definitive or strong

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 SLC4A3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where SLC4A3 sits. SLC4A3 and 29 genes near it on chromosome 2, from 219,134,801 to 220,134,800.Chromosome 22q35p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3219.2 Mb219.4 Mb219.6 Mb219.8 Mb220 MbNHEJ1: 219,069,355–219,160,869, reverse strand: 219,075,329–219,170,827, reverse strandSLC23A3: 219,161,465–219,170,095, reverse strandSLC23A3CNPPD1: 219,170,704–219,182,664, reverse strandCNPPD1RETREG2: 219,176,225–219,185,917, forward strandRETREG2ZFAND2B: 219,195,237–219,209,651, forward strandABCB6: 219,209,765–219,219,012, reverse strand: 219,209,772–219,222,738, reverse strandATG9A: 219,219,380–219,230,383, reverse strandANKZF1: 219,229,769–219,236,679, forward strandGLB1L: 219,236,598–219,245,478, reverse strandSTK16: 219,245,212–219,250,339, forward strandTUBA4A: 219,249,710–219,277,902, reverse strandTUBA4ATUBA4B: 219,253,243–219,272,197, forward strandTUBA4BDNAJB2: 219,279,308–219,286,900, forward strandDNAJB2PTPRN: 219,289,623–219,309,648, reverse strandPTPRNRESP18: 219,327,407–219,335,552, reverse strandRESP18DNPEP: 219,360,090–219,400,022, reverse strandDNPEPDES: 219,417,474–219,426,740, forward strandDESSPEG: 219,434,471–219,493,629, forward strandSPEG: 219,491,867–219,498,244, forward strandSPEGNB: 219,496,129–219,498,287, forward strandGMPPA: 219,498,618–219,513,898, forward strandGMPPAASIC4: 219,514,170–219,538,772, forward strandCHPF: 219,538,949–219,543,818, reverse strandCHPFTMEM198: 219,543,130–219,550,595, forward strandTMEM198OBSL1: 219,550,727–219,572,076, reverse strandOBSL1INHA: 219,569,162–219,575,711, forward strandINHASTK11IP: 219,595,805–219,616,452, forward strandSTK11IPSLC4A3: 219,627,630–219,641,971, forward strandSLC4A3Diagram of SLC4A3: 23 exons on the forward strand of chromosome 2Exon 8: 2 known disease-causing sitesExon 1: 219,627,630–219,627,745, 116 basesExon 2: 219,627,900–219,628,043, 144 basesExon 3: 219,628,405–219,628,570, 166 basesExon 4: 219,629,144–219,629,421, 278 basesExon 5: 219,629,580–219,629,695, 116 basesExon 6: 219,630,153–219,630,352, 200 basesExon 7: 219,631,968–219,632,116, 149 basesExon 8: 219,632,262–219,632,442, 181 basesExon 9: 219,632,874–219,633,009, 136 basesExon 10: 219,633,274–219,633,457, 184 basesExon 11: 219,633,880–219,633,979, 100 basesExon 12: 219,634,420–219,634,604, 185 basesExon 13: 219,635,271–219,635,496, 226 basesExon 14: 219,635,673–219,635,891, 219 basesExon 15: 219,636,302–219,636,450, 149 basesExon 16: 219,636,680–219,636,874, 195 basesExon 17: 219,637,581–219,637,811, 231 basesExon 18: 219,638,164–219,638,253, 90 basesExon 19: 219,638,703–219,638,869, 167 basesExon 20: 219,639,482–219,639,735, 254 basesExon 21: 219,640,430–219,640,599, 170 basesExon 22: 219,640,789–219,640,962, 174 basesExon 23: 219,641,651–219,641,971, 321 bases12345678910111213141516171819202122235′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 4.2 kb of the gene's 14.3 kb; 3,699 of those bases code for the protein.

How a genome test reads SLC4A3

2

positions in SLC4A3 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 14.3 kb of SLC4A3, introns included, not only the 4.2 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.). SLC4A3 gene: solute carrier family 4 member 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc4a3

Vancouver

Dante Labs. SLC4A3 gene: solute carrier family 4 member 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc4a3

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