Gene
SLC34A2
solute carrier family 34 member 2
- HGNC 11020(opens in a new tab)
- Ensembl gene ENSG00000157765(opens in a new tab)
- NCBI Gene 10568(opens in a new tab)
Summary
- Cytogenetic location
- 4p15.2
- Coordinates
- Chromosome 4: 25,655,851–25,678,748 (GRCh38)
- Exons
- 13 exons across 22.9 kb
- Protein
- 690 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- NAPI-3B, NaPi-2b, NPTIIb, NaPi2b, NAPI-IIb
- MANE Select transcript
- ENST00000382051.8NM_006424.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Pulmonary Alveolar Microlithiasis
- Autosomal recessive
Gradual build-up of microscopic calcium-phosphate deposits in the alveoli caused by loss of the SLC34A2 phosphate transporter, which may cause no symptoms for years before reducing lung function.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Knowing can support an earlier diagnosis, regular lung function monitoring and, for carriers, information for family planning.
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 SLC34A2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 4.1 kb of the gene's 22.9 kb; 2,073 of those bases code for the protein.
How a genome test reads SLC34A2
7
positions in SLC34A2 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 22.9 kb of SLC34A2, introns included, not only the 4.1 kb of exons.
Traits linked to SLC34A2
The Human Phenotype Ontology lists these as features of the rare conditions SLC34A2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the respiratory system
- Breathing difficulty
- Dry cough
- Oxygen desaturation on exertion
- Stiff lung or chest wall causing decreased lung volume
- Collapsed lung
- Coughing up blood
- Exertional breathlessness
- Increased respiratory rate or depth of breathing
Show 12 more traits
- Interlobular septal thickening
- Low blood oxygen level
- Lung infiltrates
- Permanent enlargement of the airways of the lungs
- Pleural thickening
- Respiratory function loss
- Subpleural interstitial thickening
- Ground-glass opacification
- Pulmonary scarring
- Respiratory failure
- Respiratory tract infection
- Progressive pulmonary function impairment
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). SLC34A2 gene: solute carrier family 34 member 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/slc34a2
Dante Labs. SLC34A2 gene: solute carrier family 34 member 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/slc34a2
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