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Gene

SLC34A1

solute carrier family 34 member 1

Summary

Cytogenetic location
5q35.3
Coordinates
Chromosome 5: 177,384,434–177,398,848 (GRCh38)
Exons
13 exons across 14.4 kb
Protein
639 amino acids
Inheritance
Autosomal recessive
Also known as
NAPI-3, NPTIIa, SLC11
Previous symbols
NPT2, SLC17A2
MANE Select transcript
ENST00000324417.6NM_003052.5
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

  • Hypercalcemia Infantile

    • Autosomal recessive

      A hypercalcemia disease that occurs between 28 days to one year of life.

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

Inheritance

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 SLC34A1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where SLC34A1 sits. SLC34A1 and 22 genes near it on chromosome 5, from 176,891,641 to 177,891,640.Chromosome 55q35.3p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3177 Mb177.2 Mb177.4 Mb177.6 Mb177.8 MbHK3: 176,880,820–176,899,437, reverse strandHK3UIMC1: 176,902,225–177,022,646, reverse strandUIMC1ZNF346: 177,022,059–177,081,202, forward strandZNF346FGFR4: 177,086,456–177,098,156, forward strandFGFR4NSD1: 177,131,787–177,300,213, forward strandNSD1RAB24: 177,301,198–177,303,766, reverse strandRAB24MXD3: 177,301,461–177,312,757, reverse strandMXD3PRELID1: 177,303,787–177,306,958, forward strandPRELID1LMAN2: 177,315,805–177,351,840, reverse strandLMAN2RGS14: 177,357,654–177,374,390, forward strandRGS14SLC34A1: 177,384,434–177,398,848, forward strandSLC34A1PFN3: 177,400,109–177,400,661, reverse strandPFN3F12: 177,402,133–177,416,583, reverse strandF12GRK6: 177,403,204–177,442,901, forward strandGRK6PRR7: 177,446,445–177,456,291, forward strandPRR7DBN1: 177,456,225–177,474,401, reverse strandDBN1PDLIM7: 177,482,838–177,497,664, reverse strandPDLIM7DOK3: 177,501,888–177,511,274, reverse strandDOK3DDX41: 177,511,569–177,516,979, reverse strandDDX41FAM193B: 177,519,788–177,554,601, reverse strandFAM193BTMED9: 177,592,174–177,597,242, forward strandTMED9B4GALT7: 177,600,081–177,611,056, forward strandB4GALT7FAM153A: 177,707,981–177,784,435, reverse strandFAM153ADiagram of SLC34A1: 13 exons on the forward strand of chromosome 5Exon 2: 1 known disease-causing siteExon 3: 5 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 7: 4 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 13: 7 known disease-causing sitesExon 1: 177,384,434–177,384,487, 54 basesExon 2: 177,385,695–177,385,850, 156 basesExon 3: 177,385,987–177,386,136, 150 basesExon 4: 177,386,221–177,386,349, 129 basesExon 5: 177,386,423–177,386,566, 144 basesExon 6: 177,387,762–177,387,873, 112 basesExon 7: 177,387,994–177,388,189, 196 basesExon 8: 177,388,277–177,388,372, 96 basesExon 9: 177,393,694–177,393,763, 70 basesExon 10: 177,394,028–177,394,195, 168 basesExon 11: 177,396,733–177,396,849, 117 basesExon 12: 177,396,950–177,397,074, 125 basesExon 13: 177,397,783–177,398,848, 1,066 bases124681012135′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 2.6 kb of the gene's 14.4 kb; 1,920 of those bases code for the protein.

How a genome test reads SLC34A1

39

positions in SLC34A1 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 14.4 kb of SLC34A1, introns included, not only the 2.6 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.). SLC34A1 gene: solute carrier family 34 member 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc34a1

Vancouver

Dante Labs. SLC34A1 gene: solute carrier family 34 member 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc34a1

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