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    Slc20a2 solute carrier family 20, member 2 [ Mus musculus (house mouse) ]

    Gene ID: 20516, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Slc20a2provided by MGI
    Official Full Name
    solute carrier family 20, member 2provided by MGI
    Primary source
    MGI:MGI:97851
    See related
    Ensembl:ENSMUSG00000037656 AllianceGenome:MGI:97851
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Pit2; Ram1; Pit-2; Ram-1; MolPit2
    Summary
    Predicted to enable inorganic phosphate transmembrane transporter activity. Predicted to be involved in phosphate ion transmembrane transport. Predicted to act upstream of or within phosphate ion transport; sodium ion transport; and viral process. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. Predicted to be integral component of plasma membrane. Is expressed in several structures, including alimentary system; liver; male reproductive gland or organ; spleen; and yolk sac. Used to study basal ganglia calcification. Human ortholog(s) of this gene implicated in basal ganglia calcification. Orthologous to human SLC20A2 (solute carrier family 20 member 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in heart adult (RPKM 44.7), cerebellum adult (RPKM 21.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    8 A2; 8 11.42 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (22966771..23059632)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (22476700..22569616)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_20903 Neighboring gene mitochondrial ribosomal protein S31 Neighboring gene STARR-seq mESC enhancer starr_20904 Neighboring gene predicted gene, 39140 Neighboring gene STARR-positive B cell enhancer ABC_E9722 Neighboring gene small integral membrane protein 19 Neighboring gene STARR-seq mESC enhancer starr_20908 Neighboring gene voltage-dependent anion channel 3 Neighboring gene predicted gene, 30086

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. T-cell infiltration in the central nervous system and their association with brain calcification in Slc20a2-deficient mice. Zhang Y, et al. Front Mol Neurosci, 2023. PMID 36741925, Free PMC Article
    2. Slc20a2-Deficient Mice Exhibit Multisystem Abnormalities and Impaired Spatial Learning Memory and Sensorimotor Gating but Normal Motor Coordination Abilities. Ren Y, et al. Front Genet, 2021. PMID 33889180, Free PMC Article
    3. Intestinal epithelial ablation of Pit-2/Slc20a2 in mice leads to sustained elevation of vitamin D(3) upon dietary restriction of phosphate. Pastor-Arroyo EM, et al. Acta Physiol (Oxf), 2020 Oct. PMID 32564464
    4. PiT-2, a type III sodium-dependent phosphate transporter, protects against vascular calcification in mice with chronic kidney disease fed a high-phosphate diet. Yamada S, et al. Kidney Int, 2018 Oct. PMID 30041812, Free PMC Article
    5. Mice Knocked Out for the Primary Brain Calcification-Associated Gene Slc20a2 Show Unimpaired Prenatal Survival but Retarded Growth and Nodules in the Brain that Grow and Calcify Over Time. Jensen N, et al. Am J Pathol, 2018 Aug. PMID 29803831

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Slc20a1/Pit1 and Slc20a2/Pit2 are essential for normal skeletal myofiber function and survival.
      Title: Slc20a1/Pit1 and Slc20a2/Pit2 are essential for normal skeletal myofiber function and survival.
    2. Slc20a2, Encoding the Phosphate Transporter PiT2, Is an Important Genetic Determinant of Bone Quality and Strength.
      Title: Slc20a2, Encoding the Phosphate Transporter PiT2, Is an Important Genetic Determinant of Bone Quality and Strength.
    3. Loss of Slc20a2 expression is associated with Retarded Growth and brain calcification.
      Title: Mice Knocked Out for the Primary Brain Calcification-Associated Gene Slc20a2 Show Unimpaired Prenatal Survival but Retarded Growth and Nodules in the Brain that Grow and Calcify Over Time.
    4. Thus, PiT-2 in vascular smooth muscle cells protects against phosphate-induced vascular calcification.
      Title: PiT-2, a type III sodium-dependent phosphate transporter, protects against vascular calcification in mice with chronic kidney disease fed a high-phosphate diet.
    5. PiT2 is necessary for phosphate-dependent secretion of Fgf23, independently from possible endocrine regulatory loops.
      Title: Phosphate-dependent FGF23 secretion is modulated by PiT2/Slc20a2.
    6. The increase uptake of pentavalent arsenic in diabetic mouse tissues may be associated with increased PIT1 and/or PIT2 expression.
      Title: Increased PIT1 and PIT2 Expression in Streptozotocin (STZ)-induced Diabetic Mice Contributes to Uptake of iAs(V).
    7. Slc20a2 was expressed in tissues that producing or regulating CSF, including choroid plexus, ependyma and arteriolar smooth muscle cells. Haploinsufficient Slc20a2 +/- mice developed age-dependent basal ganglia calcification in glymphatic pathway-associated arterioles. Slc20a2 loss dysregulated phosphate homeostasis and enhanced susceptibility of arteriolar smooth muscle cells to high PO4-induced calcification.
      Title: SLC20A2 Deficiency in Mice Leads to Elevated Phosphate Levels in Cerbrospinal Fluid and Glymphatic Pathway-Associated Arteriolar Calcification, and Recapitulates Human Idiopathic Basal Ganglia Calcification.
    8. These results suggest that PiT-2 is involved in normal bone development and growth and plays roles in cortical and trabecular bone metabolism feasibly by regulating local phosphate transport and mineralization processes in the bone.
      Title: Loss of PiT-2 results in abnormal bone development and decreased bone mineral density and length in mice.
    9. Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid
      Title: Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid.
    10. Knockout of Slc20a2 in mice causes calcifications in the thalamus, basal ganglia, and cortex.
      Title: Loss of function of Slc20a2 associated with familial idiopathic Basal Ganglia calcification in humans causes brain calcifications in mice.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (3)  1 citation
    • Endonuclease-mediated (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables phosphate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables sodium:phosphate symporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sodium:phosphate symporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables sodium:phosphate symporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables symporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables virus receptor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphate ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within phosphate ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphate ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within sodium ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in apical plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in brush border membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    sodium-dependent phosphate transporter 2
    Names
    phosphate transporter 2
    type III sodium-dependent phosphate transporter

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001424901.1 → NP_001411830.1  sodium-dependent phosphate transporter 2

      Status: VALIDATED

      Source sequence(s)
      AC140326, AC153017
      UniProtKB/Swiss-Prot
      E9QLQ8, Q3TBZ8, Q80UP8, Q9ES96

    2. NM_001424902.1 → NP_001411831.1  sodium-dependent phosphate transporter 2

      Status: VALIDATED

      Source sequence(s)
      AC140326, AC153017
      UniProtKB/Swiss-Prot
      E9QLQ8, Q3TBZ8, Q80UP8, Q9ES96

    3. NM_001424903.1 → NP_001411832.1  sodium-dependent phosphate transporter 2

      Status: VALIDATED

      Source sequence(s)
      AC140326, AC153017
      UniProtKB/Swiss-Prot
      E9QLQ8, Q3TBZ8, Q80UP8, Q9ES96

    4. NM_011394.4 → NP_035524.2  sodium-dependent phosphate transporter 2

      See identical proteins and their annotated locations for NP_035524.2

      Status: VALIDATED

      Source sequence(s)
      AC140326, AC153017
      Consensus CDS
      CCDS22178.1
      UniProtKB/Swiss-Prot
      E9QLQ8, Q3TBZ8, Q80UP8, Q9ES96
      Related
      ENSMUSP00000065935.8, ENSMUST00000067786.9
      Conserved Domains (1) summary
      pfam01384
      Location:465 → 638
      PHO4; Phosphate transporter family

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      22966771..23059632
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030243367.2 → XP_030099227.1  sodium-dependent phosphate transporter 2 isoform X2

      Conserved Domains (1) summary
      pfam01384
      Location:288 → 461
      PHO4; Phosphate transporter family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80UP8.2 GenPept UniProtKB/Swiss-Prot:Q80UP8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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