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

Summary

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: mouse all
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Genomic context

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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 EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D6S2382 (e-PCR)
- UniSTS:40627

RH17511 (e-PCR)
- UniSTS:16823

NoName (e-PCR)
- UniSTS:483516

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

NG_034000.1 RefSeqGene

Range

5036..22973

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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 ...
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

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

25912754..25930691 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_047418066.1 → XP_047274022.1 sodium-dependent phosphate transport protein 3 isoform X3
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
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
XM_017010160.2 → XP_016865649.1 sodium-dependent phosphate transport protein 3 isoform X5
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 ...
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

NC_060930.1 Alternate T2T-CHM13v2.0

Range

25778573..25796593 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054354011.1 → XP_054209986.1 sodium-dependent phosphate transport protein 3 isoform X1
XM_054354013.1 → XP_054209988.1 sodium-dependent phosphate transport protein 3 isoform X8
XM_054354009.1 → XP_054209984.1 sodium-dependent phosphate transport protein 3 isoform X7
XM_054354015.1 → XP_054209990.1 sodium-dependent phosphate transport protein 3 isoform X3
XM_054354012.1 → XP_054209987.1 sodium-dependent phosphate transport protein 3 isoform X8
XM_054354017.1 → XP_054209992.1 sodium-dependent phosphate transport protein 3 isoform X5
XM_054354016.1 → XP_054209991.1 sodium-dependent phosphate transport protein 3 isoform X4
XM_054354010.1 → XP_054209985.1 sodium-dependent phosphate transport protein 3 isoform X7
XM_054354014.1 → XP_054209989.1 sodium-dependent phosphate transport protein 3 isoform X2