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Gene

SLC4A4

solute carrier family 4 member 4

Summary

Cytogenetic location
4q13.3
Coordinates
Chromosome 4: 71,187,259–71,572,083 (GRCh38)
Exons
26 exons across 384.8 kb
Protein
1,079 amino acids
Also known as
NBC1, HNBC1, NBC2, pNBC, hhNMC, kNBC1, KNBC, NBCe1
Previous symbols
SLC4A5
MANE Select transcript
ENST00000264485.11NM_001098484.3
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 report relevant to this gene

  • Renal Tubular Acidosis

    • Proximal Renal Tubular Acidosis

      An inherited loss of bicarbonate in the urine due to impaired reabsorption in the proximal tubule, most notably from SLC4A4 variants, which can also affect the eyes.

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

      Alkali treatment can correct the acidosis and support normal growth.

How SLC4A4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 4, with a bracket where SLC4A4 sits. SLC4A4 and 5 genes near it on chromosome 4, from 70,802,434 to 71,956,908.Chromosome 44q13.3p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.271 Mb71.2 Mb71.4 Mb71.6 Mb71.8 MbRUFY3: 70,704,204–70,808,619, forward strandRUFY3GRSF1: 70,815,783–70,839,957, reverse strandGRSF1MOB1B: 70,901,944–71,022,449, forward strandMOB1BDCK: 70,992,538–71,030,914, forward strandDCKSLC4A4: 71,187,259–71,572,083, forward strandSLC4A4GC: 71,713,531–71,805,527, reverse strandGCDiagram of SLC4A4: 26 exons on the forward strand of chromosome 4Exon 3: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 10: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 26: 1 known disease-causing siteExon 1: 71,187,259–71,187,401, 143 basesExon 2: 71,236,576–71,236,649, 74 basesExon 3: 71,255,220–71,255,399, 180 basesExon 4: 71,339,370–71,339,505, 136 basesExon 5: 71,349,912–71,350,072, 161 basesExon 6: 71,357,008–71,357,187, 180 basesExon 7: 71,397,577–71,397,653, 77 basesExon 8: 71,440,616–71,440,773, 158 basesExon 9: 71,447,646–71,447,733, 88 basesExon 10: 71,450,389–71,450,543, 155 basesExon 11: 71,451,188–71,451,301, 114 basesExon 12: 71,453,495–71,453,669, 175 basesExon 13: 71,466,444–71,466,577, 134 basesExon 14: 71,472,699–71,472,970, 272 basesExon 15: 71,486,948–71,487,018, 71 basesExon 16: 71,497,501–71,497,692, 192 basesExon 17: 71,532,062–71,532,175, 114 basesExon 18: 71,534,227–71,534,388, 162 basesExon 19: 71,546,350–71,546,528, 179 basesExon 20: 71,547,648–71,547,720, 73 basesExon 21: 71,555,140–71,555,208, 69 basesExon 22: 71,557,712–71,557,885, 174 basesExon 23: 71,560,093–71,560,254, 162 basesExon 24: 71,563,793–71,563,889, 97 basesExon 25: 71,567,004–71,567,083, 80 basesExon 26: 71,567,788–71,572,083, 4,296 bases11020265′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 7.7 kb of the gene's 384.8 kb; 3,240 of those bases code for the protein.

How a genome test reads SLC4A4

8

positions in SLC4A4 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 384.8 kb of SLC4A4, introns included, not only the 7.7 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.). SLC4A4 gene: solute carrier family 4 member 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc4a4

Vancouver

Dante Labs. SLC4A4 gene: solute carrier family 4 member 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc4a4

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