AutismKB 2.0

Annotation Details for SLC17A3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SLC17A3 ( NPT4 )
Gene Full Name: solute carrier family 17 (sodium phosphate), member 3
Band: 6p22.2
Quick LinksEntrez ID:10786; OMIM: 611034; Uniprot ID:NPT4_HUMAN; ENSEMBL ID: ENSG00000124564; HGNC ID: 10931
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IDA-cytoplasm20810651
GO:0005789IDA-endoplasmic reticulum membrane15505377
GO:0005789TAS-endoplasmic reticulum membrane-
GO:0005886TAS-plasma membrane-
GO:0005887IDA-integral component of plasma membrane20810651
GO:0016324IDA-apical plasma membrane20810651
GO:0031526ISS-brush border membrane-
GO:0048471IDA-perinuclear region of cytoplasm15505377
GO ID Evidence Qualifier GO_term References
GO:0005436IBA-sodium:phosphate symporter activity-
GO:0005436ISS-sodium:phosphate symporter activity-
GO:0005436TAS-sodium:phosphate symporter activity-
GO:0008308IDA-voltage-gated anion channel activity20810651
GO:0008514IDA-organic anion transmembrane transporter activity20810651
GO:0015143IDA-urate transmembrane transporter activity20810651
GO:0015143TAS-urate transmembrane transporter activity-
GO:0015238IDA-drug transmembrane transporter activity20810651
GO:0015562IDA-efflux transmembrane transporter activity20810651
GO:0019534IDA-toxin transporter activity20810651
GO ID Evidence Qualifier GO_term References
GO:0006814ISS-sodium ion transport-
GO:0006817ISS-phosphate ion transport-
GO:0006855IEA-drug transmembrane transport-
GO:0015711IDA-organic anion transport20810651
GO:0015747IDA-urate transport20810651
GO:0015760TAS-glucose-6-phosphate transport15505377
GO:0015893IDA-drug transport20810651
GO:0034220TAS-ion transmembrane transport-
GO:0035435IEA-phosphate ion transmembrane transport-
GO:0035725IBA-sodium ion transmembrane transport-
GO:0046415IMP-urate metabolic process18834626
GO:1901998IEA-toxin transport-
GO:1903825IEA-organic acid transmembrane transport-
GO:1903959IEA-regulation of anion transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2389216
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018