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SLC17A2 solute carrier family 17 member 2 [ Homo sapiens (human) ]

Gene ID: 10246, updated on 11-Apr-2024

Summary

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Official Symbol
SLC17A2provided by HGNC
Official Full Name
solute carrier family 17 member 2provided by HGNC
Primary source
HGNC:HGNC:10930
See related
Ensembl:ENSG00000112337 MIM:611049; AllianceGenome:HGNC:10930
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NPT3
Summary
Predicted to enable sialic acid transmembrane transporter activity. Predicted to be involved in sialic acid transport. Predicted to be located in membrane. Predicted to be active in lysosome. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward liver (RPKM 16.0) See more
Orthologs
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Genomic context

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Location:
6p22.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (25912754..25930691, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (25778573..25796593, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (25912982..25930919, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:25882461-25882975 Neighboring gene H2A clustered histone 3, pseudogene Neighboring gene H2B histone pseudogene 5 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:25898344-25898933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24170 Neighboring gene CRISPRi-validated cis-regulatory element chr6.1077 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:25971247-25972446 Neighboring gene tripartite motif containing 38 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16997 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24171 Neighboring gene long intergenic non-protein coding RNA 2980 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:25999111-25999745 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:25999746-26000381

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. Genetic variants in two pathways influence serum urate levels and gout risk: a systematic pathway analysis. Dong Z, et al. Sci Rep, 2018 Mar 1. PMID 29497127, Free PMC Article
  2. Genome-wide association study of serum iron phenotypes in premenopausal women of European descent. Koller DL, et al. Blood Cells Mol Dis, 2016 Mar. PMID 26852655, Free PMC Article
  3. Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease. Stark K, et al. PLoS One, 2009 Nov 5. PMID 19890391, Free PMC Article
  4. A 1.1-Mb transcript map of the hereditary hemochromatosis locus. Ruddy DA, et al. Genome Res, 1997 May. PMID 9149941
  5. Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. Simino J, et al. Am J Hum Genet, 2014 Jul 3. PMID 24954895, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. a novel gout-associated gene, SLC17A2, was identified (OR = 0.83, PFDR = 0.017).The common variant rs2071299 is an expression associated SNP and SLC17A2 mRNA expression is modified by different genotypes of this variant. the mRNA expression and protein levels of SLC17A2 between healthy individuals and hyperuricemia patients were significantly different
    Title: Genetic variants in two pathways influence serum urate levels and gout risk: a systematic pathway analysis.
  2. Association was detected in premenopausal women of European descent between percent iron saturation and variants in the chromosome 6 region containing both HFE and SLC17A2 genes.
    Title: Genome-wide association study of serum iron phenotypes in premenopausal women of European descent.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC138238

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables sodium:phosphate symporter activity TAS
Traceable Author Statement
more info
 PubMed 
enables transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables urate transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in monoatomic anion transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phosphate-containing compound metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in sodium ion transport TAS
Traceable Author Statement
more info
 PubMed 
involved_in urate transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
sodium-dependent phosphate transport protein 3
Names
Na(+)/PI cotransporter 3
sodium phosphate transporter 3
sodium/phosphate cotransporter 3
solute carrier family 17 (vesicular glutamate 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_034000.1 RefSeqGene

    Range
    5036..22973
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001286123.3 → NP_001273052.1  sodium-dependent phosphate transport protein 3 isoform a

    See identical proteins and their annotated locations for NP_001273052.1

    Status: VALIDATED

    Source sequence(s)
    AL138726, U91328
    Consensus CDS
    CCDS69060.1
    UniProtKB/Swiss-Prot
    O00624
    Related
    ENSP00000367081.3, ENST00000377850.8
    Conserved Domains (2) summary
    cd06174
    Location:81 → 461
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    TIGR00894
    Location:1 → 477
    2A0114euk; Na(+)-dependent inorganic phosphate cotransporter

  2. NM_001286125.2 → NP_001273054.1  sodium-dependent phosphate transport protein 3 isoform c

    See identical proteins and their annotated locations for NP_001273054.1

    Status: VALIDATED

    Source sequence(s)
    AL138726
    UniProtKB/Swiss-Prot
    O00624
    Conserved Domains (1) summary
    cd06174
    Location:81 → 342
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

  3. NM_005835.4 → NP_005826.1  sodium-dependent phosphate transport protein 3 isoform b

    See identical proteins and their annotated locations for NP_005826.1

    Status: VALIDATED

    Source sequence(s)
    BC104822, BJ993843, C21035, U90544
    Consensus CDS
    CCDS4567.1
    Related
    ENSP00000353677.3, ENST00000360488.7
    Conserved Domains (1) summary
    cl27298
    Location:1 → 354
    UhpC; Sugar phosphate permease [Carbohydrate transport and metabolism]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    25912754..25930691 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714950.3 → XP_006715013.1  sodium-dependent phosphate transport protein 3 isoform X6

    Conserved Domains (2) summary
    cd06174
    Location:58 → 438
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    TIGR00894
    Location:1 → 454
    2A0114euk; Na(+)-dependent inorganic phosphate cotransporter

  2. XM_047418066.1 → XP_047274022.1  sodium-dependent phosphate transport protein 3 isoform X3

  3. XM_006714949.4 → XP_006715012.1  sodium-dependent phosphate transport protein 3 isoform X1

    See identical proteins and their annotated locations for XP_006715012.1

    UniProtKB/Swiss-Prot
    O00624
    Conserved Domains (2) summary
    cd06174
    Location:81 → 461
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    TIGR00894
    Location:1 → 477
    2A0114euk; Na(+)-dependent inorganic phosphate cotransporter

  4. XM_017010159.2 → XP_016865648.1  sodium-dependent phosphate transport protein 3 isoform X6

    Conserved Domains (2) summary
    cd06174
    Location:58 → 438
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    TIGR00894
    Location:1 → 454
    2A0114euk; Na(+)-dependent inorganic phosphate cotransporter

  5. XM_017010160.2 → XP_016865649.1  sodium-dependent phosphate transport protein 3 isoform X5

  6. XM_006714951.2 → XP_006715014.1  sodium-dependent phosphate transport protein 3 isoform X4

    See identical proteins and their annotated locations for XP_006715014.1

    Conserved Domains (1) summary
    cd06174
    Location:81 → 342
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

  7. XM_047418065.1 → XP_047274021.1  sodium-dependent phosphate transport protein 3 isoform X2

    UniProtKB/Swiss-Prot
    A6NK81, A6NLD6, O00624, Q5TB84, Q76P85
    Related
    ENSP00000265425.3, ENST00000265425.3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    25778573..25796593 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354011.1 → XP_054209986.1  sodium-dependent phosphate transport protein 3 isoform X1

  2. XM_054354013.1 → XP_054209988.1  sodium-dependent phosphate transport protein 3 isoform X8

  3. XM_054354009.1 → XP_054209984.1  sodium-dependent phosphate transport protein 3 isoform X7

  4. XM_054354015.1 → XP_054209990.1  sodium-dependent phosphate transport protein 3 isoform X3

  5. XM_054354012.1 → XP_054209987.1  sodium-dependent phosphate transport protein 3 isoform X8

  6. XM_054354017.1 → XP_054209992.1  sodium-dependent phosphate transport protein 3 isoform X5

  7. XM_054354016.1 → XP_054209991.1  sodium-dependent phosphate transport protein 3 isoform X4

  8. XM_054354010.1 → XP_054209985.1  sodium-dependent phosphate transport protein 3 isoform X7

  9. XM_054354014.1 → XP_054209989.1  sodium-dependent phosphate transport protein 3 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O00624.2 GenPept UniProtKB/Swiss-Prot:O00624

Gene LinkOut

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