Skip to content
Use your HSA or FSA funds
Sequence your genome (opens in a new tab)

Gene

SLC4A11

solute carrier family 4 member 11

Summary

Cytogenetic location
20p13
Coordinates
Chromosome 20: 3,227,422–3,239,190 (GRCh38)
Exons
20 exons across 11.8 kb
Protein
875 amino acids
Also known as
dJ794I6.2, BTR1, NaBC1, FECD4
Previous symbols
CHED2, CDPD1
MANE Select transcript
ENST00000642402.1NM_001174089.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Hereditary Corneal Dystrophies

    • Corneal Dystrophy

      A group of inherited conditions affecting one or more layers of the cornea, including Fuchs endothelial dystrophy (often linked to a TCF4 repeat expansion), TGFBI-related granular and lattice dystrophies, and rarer types caused by genes such as SLC4A11, COL8A2, ZEB1 and CHST6.

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

      Carriers of TGFBI variants are generally advised to avoid laser refractive surgery (LASIK or PRK), which can make deposits worse; corneal transplant can restore vision in advanced disease.

How SLC4A11 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 20, with a bracket where SLC4A11 sits. SLC4A11 and 23 genes near it on chromosome 20, from 2,733,306 to 3,733,305.Chromosome 2020p13p13p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12q13.11q13.12q13.13q13.2q13.31q13.32q13.332.8 Mb3 Mb3.2 Mb3.4 Mb3.6 MbEBF4: 2,692,724–2,760,228, forward strandEBF4CPXM1: 2,794,069–2,800,835, reverse strand: 2,814,968–2,818,066, forward strandC20orf141: 2,814,987–2,815,833, forward strandC20orf141TMEM239: 2,816,302–2,820,284, forward strandTMEM239PCED1A: 2,835,070–2,841,190, reverse strandPCED1AVPS16: 2,840,689–2,867,031, forward strandVPS16PTPRA: 2,870,754–3,039,247, forward strandPTPRAGNRH2: 3,042,814–3,045,747, forward strandGNRH2MRPS26: 3,046,016–3,048,254, forward strandMRPS26OXT: 3,071,476–3,072,517, forward strandOXTAVP: 3,082,556–3,084,724, reverse strandAVPUBOX5: 3,107,573–3,160,196, reverse strandUBOX5FASTKD5: 3,146,519–3,160,196, reverse strandFASTKD5LZTS3: 3,162,617–3,174,504, reverse strandLZTS3DDRGK1: 3,188,734–3,204,700, reverse strandDDRGK1ITPA: 3,208,868–3,227,446, forward strandITPASLC4A11: 3,227,422–3,239,190, reverse strandSLC4A11DNAAF9: 3,249,295–3,407,942, reverse strandDNAAF9ATRN: 3,470,965–3,651,118, forward strandATRNGFRA4: 3,659,248–3,663,483, reverse strandGFRA4ADAM33: 3,667,962–3,682,249, reverse strandADAM33SIGLEC1: 3,686,970–3,712,647, reverse strandSIGLEC1HSPA12B: 3,730,248–3,753,553, forward strandHSPA12BDiagram of SLC4A11: 20 exons on the reverse strand of chromosome 20Exon 19: 11 known disease-causing sitesExon 18: 9 known disease-causing sitesExon 17: 6 known disease-causing sitesExon 16: 3 known disease-causing sitesExon 15: 3 known disease-causing sitesExon 14: 4 known disease-causing sitesExon 13: 1 known disease-causing siteExon 12: 2 known disease-causing sitesExon 11: 6 known disease-causing sitesExon 10: 4 known disease-causing sitesExon 9: 1 known disease-causing siteExon 8: 7 known disease-causing sitesExon 7: 5 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 4: 1 known disease-causing siteExon 3: 7 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 20: 3,227,422–3,227,856, 435 basesExon 19: 3,228,259–3,228,428, 170 basesExon 18: 3,228,512–3,228,707, 196 basesExon 17: 3,228,838–3,229,011, 174 basesExon 16: 3,229,095–3,229,263, 169 basesExon 15: 3,229,346–3,229,452, 107 basesExon 14: 3,229,524–3,229,776, 253 basesExon 13: 3,230,187–3,230,260, 74 basesExon 12: 3,230,515–3,230,647, 133 basesExon 11: 3,230,732–3,230,845, 114 basesExon 10: 3,230,933–3,231,058, 126 basesExon 9: 3,231,149–3,231,242, 94 basesExon 8: 3,231,330–3,231,548, 219 basesExon 7: 3,233,514–3,233,637, 124 basesExon 6: 3,233,921–3,234,002, 82 basesExon 5: 3,234,083–3,234,314, 232 basesExon 4: 3,234,568–3,234,617, 50 basesExon 3: 3,234,742–3,234,894, 153 basesExon 2: 3,237,544–3,237,588, 45 basesExon 1: 3,239,095–3,239,190, 96 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 3 kb of the gene's 11.8 kb; 2,628 of those bases code for the protein.

How a genome test reads SLC4A11

99

positions in SLC4A11 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 11.8 kb of SLC4A11, introns included, not only the 3 kb of exons.

Genes linked to the same conditions

Traits linked to SLC4A11

The Human Phenotype Ontology lists these as features of the rare conditions SLC4A11 can cause. Each trait's page lists the other genes linked to it.

External links

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.). SLC4A11 gene: solute carrier family 4 member 11. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc4a11

Vancouver

Dante Labs. SLC4A11 gene: solute carrier family 4 member 11 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc4a11

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test