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    SLC20A2 solute carrier family 20 member 2 [ Homo sapiens (human) ]

    Gene ID: 6575, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SLC20A2provided by HGNC
    Official Full Name
    solute carrier family 20 member 2provided by HGNC
    Primary source
    HGNC:HGNC:10947
    See related
    Ensembl:ENSG00000168575 MIM:158378; AllianceGenome:HGNC:10947
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PIT2; RAM1; GLVR2; IBGC1; IBGC2; IBGC3; MLVAR; PIT-2; Ram-1; GLVR-2
    Summary
    This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular phosphate uptake. The encoded protein also confers susceptibility to viral infection as a gamma-retroviral receptor. Mutations in this gene may play a role in familial idiopathic basal ganglia calcification. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
    Expression
    Ubiquitous expression in thyroid (RPKM 23.3), heart (RPKM 12.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC20A2 in Genome Data Viewer
    Location:
    8p11.21
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (42416475..42541954, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (42686790..42810126, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (42273993..42397097, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancers GRCh37_chr8:42248902-42249402 and GRCh37_chr8:42249403-42249903 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:42258699-42258918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27311 Neighboring gene dickkopf WNT signaling pathway inhibitor 4 Neighboring gene voltage dependent anion channel 3 Neighboring gene Sharpr-MPRA regulatory region 15103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42331955-42332466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42332467-42332978 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:42333451-42333976 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:42333977-42334500 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:42350219-42351086 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:42359656-42360855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19156 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19157 Neighboring gene Sharpr-MPRA regulatory region 9023 Neighboring gene NANOG hESC enhancer GRCh37_chr8:42409514-42410035 Neighboring gene small integral membrane protein 19 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27312 Neighboring gene Sharpr-MPRA regulatory region 2659 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42516917-42517417 Neighboring gene uncharacterized LOC124900250 Neighboring gene uncharacterized LOC105379396 Neighboring gene cholinergic receptor nicotinic beta 3 subunit

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Primary familial brain calcification: Genetic analysis and clinical spectrum. Taglia I, et al. Mov Disord, 2014 Nov. PMID 25284758
    2. Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China. Chen S, et al. Parkinsonism Relat Disord, 2019 Jul. PMID 31003906
    3. Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification. Chen WJ, et al. Gene, 2013 Oct 15. PMID 23939468
    4. SLC20A2 variants cause dysfunctional phosphate transport activity in endothelial cells induced from Idiopathic Basal Ganglia Calcification patients-derived iPSCs. Sekine SI, et al. Biochem Biophys Res Commun, 2019 Mar 5. PMID 30704756
    5. Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant. Konno T, et al. Neurol Neurochir Pol, 2018 May-Jun. PMID 29680161

    See all (85) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NOT linked in indiopathic basal ganglia calcinosis
      Title: Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q.
    2. Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype.
      Title: Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype.
    3. PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease and primary familial brain calcification co-morbidity.
      Title: PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease and primary familial brain calcification co-morbidity.
    4. PiT2 deficiency prevents increase of bone marrow adipose tissue during skeletal maturation but not in OVX-induced osteoporosis.
      Title: PiT2 deficiency prevents increase of bone marrow adipose tissue during skeletal maturation but not in OVX-induced osteoporosis.
    5. Mechanisms of PiT2-loop7 Missense Mutations Induced Pi Dyshomeostasis.
      Title: Mechanisms of PiT2-loop7 Missense Mutations Induced Pi Dyshomeostasis.
    6. Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.
      Title: Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.
    7. MiR-9-5p Regulates Genes Linked to Cerebral Calcification in the Osteogenic Differentiation Model and Induces Generalized Alteration in the Ion Channels.
      Title: MiR-9-5p Regulates Genes Linked to Cerebral Calcification in the Osteogenic Differentiation Model and Induces Generalized Alteration in the Ion Channels.
    8. Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.
      Title: Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.
    9. Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation.
      Title: Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation.
    10. Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element.
      Title: Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element.
    Submit: New GeneRIF Correction See all GeneRIFs (56)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Idiopathic basal ganglia calcification 1
    MedGen: C4551624 OMIM: 213600 GeneReviews: Primary Familial Brain Calcification
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    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 GOA

    Function Evidence Code Pubs
    enables phosphate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables signaling receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 TAS
    Traceable Author Statement
    more info
    		  
    enables virus receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in monoatomic ion transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in phosphate ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of bone mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sodium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in symbiont entry into host cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in brush border membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    sodium-dependent phosphate transporter 2
    Names
    epididymis secretory sperm binding protein
    gibbon ape leukemia virus receptor 2
    murine leukemia virus, amphotropic, receptor for
    murine leukemia virus, amphotropic; receptor
    solute carrier family 20 (phosphate transporter), member 2

    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.

    Genomic

    1. NG_032161.2 RefSeqGene

      Range
      45723..130479
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001257180.2 → NP_001244109.1  sodium-dependent phosphate transporter 2

      See identical proteins and their annotated locations for NP_001244109.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AK291202, BC028600, H10927
      Consensus CDS
      CCDS6132.1
      UniProtKB/Swiss-Prot
      Q08357
      UniProtKB/TrEMBL
      A0A384MR38, B2RBR4
      Related
      ENSP00000429754.1, ENST00000520262.6
      Conserved Domains (2) summary
      COG0306
      Location:7 → 224
      PitA; Phosphate/sulfate permease [Inorganic ion transport and metabolism]
      pfam01384
      Location:491 → 637
      PHO4; Phosphate transporter family

    2. NM_001257181.2 → NP_001244110.1  sodium-dependent phosphate transporter 2

      See identical proteins and their annotated locations for NP_001244110.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AK295952, AK314774, BC028600, H10927
      Consensus CDS
      CCDS6132.1
      UniProtKB/Swiss-Prot
      Q08357
      UniProtKB/TrEMBL
      A0A384MR38, B2RBR4
      Related
      ENSP00000429712.1, ENST00000520179.5
      Conserved Domains (2) summary
      COG0306
      Location:7 → 224
      PitA; Phosphate/sulfate permease [Inorganic ion transport and metabolism]
      pfam01384
      Location:491 → 637
      PHO4; Phosphate transporter family

    3. NM_006749.5 → NP_006740.1  sodium-dependent phosphate transporter 2

      See identical proteins and their annotated locations for NP_006740.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      BC028600, DA418477, H10927, L20852
      Consensus CDS
      CCDS6132.1
      UniProtKB/Swiss-Prot
      Q08357
      UniProtKB/TrEMBL
      A0A384MR38, B2RBR4
      Related
      ENSP00000340465.3, ENST00000342228.7
      Conserved Domains (2) summary
      COG0306
      Location:7 → 224
      PitA; Phosphate/sulfate permease [Inorganic ion transport and metabolism]
      pfam01384
      Location:491 → 637
      PHO4; Phosphate transporter family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      42416475..42541954 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024447237.2 → XP_024303005.1  sodium-dependent phosphate transporter 2 isoform X2

      UniProtKB/TrEMBL
      B2RBR4
      Conserved Domains (1) summary
      pfam01384
      Location:436 → 590
      PHO4; Phosphate transporter family

    2. XM_017013748.2 → XP_016869237.1  sodium-dependent phosphate transporter 2 isoform X1

      UniProtKB/Swiss-Prot
      Q08357
      UniProtKB/TrEMBL
      A0A384MR38, B2RBR4
      Conserved Domains (2) summary
      COG0306
      Location:7 → 224
      PitA; Phosphate/sulfate permease [Inorganic ion transport and metabolism]
      pfam01384
      Location:491 → 637
      PHO4; Phosphate transporter family

    3. XM_006716390.5 → XP_006716453.1  sodium-dependent phosphate transporter 2 isoform X2

      UniProtKB/TrEMBL
      B2RBR4
      Conserved Domains (1) summary
      pfam01384
      Location:436 → 590
      PHO4; Phosphate transporter family

    4. XM_005273613.4 → XP_005273670.1  sodium-dependent phosphate transporter 2 isoform X1

      See identical proteins and their annotated locations for XP_005273670.1

      UniProtKB/Swiss-Prot
      Q08357
      UniProtKB/TrEMBL
      A0A384MR38, B2RBR4
      Related
      ENSP00000430462.2, ENST00000518384.2
      Conserved Domains (2) summary
      COG0306
      Location:7 → 224
      PitA; Phosphate/sulfate permease [Inorganic ion transport and metabolism]
      pfam01384
      Location:491 → 637
      PHO4; Phosphate transporter family

    5. XM_024447235.2 → XP_024303003.1  sodium-dependent phosphate transporter 2 isoform X1

      UniProtKB/Swiss-Prot
      Q08357
      UniProtKB/TrEMBL
      A0A384MR38, B2RBR4
      Conserved Domains (2) summary
      COG0306
      Location:7 → 224
      PitA; Phosphate/sulfate permease [Inorganic ion transport and metabolism]
      pfam01384
      Location:491 → 637
      PHO4; Phosphate transporter family

    6. XM_047422121.1 → XP_047278077.1  sodium-dependent phosphate transporter 2 isoform X1

      UniProtKB/Swiss-Prot
      Q08357
      UniProtKB/TrEMBL
      A0A384MR38, B2RBR4

    7. XM_047422124.1 → XP_047278080.1  sodium-dependent phosphate transporter 2 isoform X2

      UniProtKB/TrEMBL
      B2RBR4

    8. XM_047422122.1 → XP_047278078.1  sodium-dependent phosphate transporter 2 isoform X1

      UniProtKB/Swiss-Prot
      Q08357
      UniProtKB/TrEMBL
      A0A384MR38, B2RBR4
      Related
      ENSP00000430166.2, ENST00000518717.2

    9. XM_047422123.1 → XP_047278079.1  sodium-dependent phosphate transporter 2 isoform X2

      UniProtKB/TrEMBL
      B2RBR4

    10. XM_024447236.2 → XP_024303004.1  sodium-dependent phosphate transporter 2 isoform X1

      UniProtKB/Swiss-Prot
      Q08357
      UniProtKB/TrEMBL
      A0A384MR38, B2RBR4
      Conserved Domains (2) summary
      COG0306
      Location:7 → 224
      PitA; Phosphate/sulfate permease [Inorganic ion transport and metabolism]
      pfam01384
      Location:491 → 637
      PHO4; Phosphate transporter family

    11. XM_017013749.3 → XP_016869238.1  sodium-dependent phosphate transporter 2 isoform X2

      UniProtKB/TrEMBL
      B2RBR4
      Conserved Domains (1) summary
      pfam01384
      Location:436 → 590
      PHO4; Phosphate transporter family

    12. XM_047422120.1 → XP_047278076.1  sodium-dependent phosphate transporter 2 isoform X1

      UniProtKB/Swiss-Prot
      Q08357
      UniProtKB/TrEMBL
      A0A384MR38, B2RBR4

    13. XM_017013752.3 → XP_016869241.1  sodium-dependent phosphate transporter 2 isoform X3

      UniProtKB/TrEMBL
      B4DJ71
      Conserved Domains (2) summary
      COG0306
      Location:349 → 507
      PitA; Phosphate/sulfate permease [Inorganic ion transport and metabolism]
      pfam01384
      Location:401 → 499
      PHO4; Phosphate transporter family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      42686790..42810126 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361045.1 → XP_054217020.1  sodium-dependent phosphate transporter 2 isoform X1

      UniProtKB/Swiss-Prot
      Q08357
      UniProtKB/TrEMBL
      A0A384MR38, B2RBR4

    2. XM_054361055.1 → XP_054217030.1  sodium-dependent phosphate transporter 2 isoform X2

      UniProtKB/TrEMBL
      B2RBR4

    3. XM_054361044.1 → XP_054217019.1  sodium-dependent phosphate transporter 2 isoform X1

      UniProtKB/Swiss-Prot
      Q08357
      UniProtKB/TrEMBL
      A0A384MR38, B2RBR4

    4. XM_054361051.1 → XP_054217026.1  sodium-dependent phosphate transporter 2 isoform X2

      UniProtKB/TrEMBL
      B2RBR4

    5. XM_054361046.1 → XP_054217021.1  sodium-dependent phosphate transporter 2 isoform X1

      UniProtKB/Swiss-Prot
      Q08357
      UniProtKB/TrEMBL
      A0A384MR38, B2RBR4

    6. XM_054361054.1 → XP_054217029.1  sodium-dependent phosphate transporter 2 isoform X2

      UniProtKB/TrEMBL
      B2RBR4

    7. XM_054361050.1 → XP_054217025.1  sodium-dependent phosphate transporter 2 isoform X1

      UniProtKB/Swiss-Prot
      Q08357
      UniProtKB/TrEMBL
      A0A384MR38, B2RBR4

    8. XM_054361053.1 → XP_054217028.1  sodium-dependent phosphate transporter 2 isoform X2

      UniProtKB/TrEMBL
      B2RBR4

    9. XM_054361048.1 → XP_054217023.1  sodium-dependent phosphate transporter 2 isoform X1

      UniProtKB/Swiss-Prot
      Q08357
      UniProtKB/TrEMBL
      A0A384MR38, B2RBR4

    10. XM_054361047.1 → XP_054217022.1  sodium-dependent phosphate transporter 2 isoform X1

      UniProtKB/Swiss-Prot
      Q08357
      UniProtKB/TrEMBL
      A0A384MR38, B2RBR4

    11. XM_054361052.1 → XP_054217027.1  sodium-dependent phosphate transporter 2 isoform X2

      UniProtKB/TrEMBL
      B2RBR4

    12. XM_054361049.1 → XP_054217024.1  sodium-dependent phosphate transporter 2 isoform X1

      UniProtKB/Swiss-Prot
      Q08357
      UniProtKB/TrEMBL
      A0A384MR38, B2RBR4

    13. XM_054361056.1 → XP_054217031.1  sodium-dependent phosphate transporter 2 isoform X3

      UniProtKB/TrEMBL
      B4DJ71
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q08357.1 GenPept UniProtKB/Swiss-Prot:Q08357

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