AutismKB 2.0

Annotation Details for SLC34A3


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Basic Information Top
Gene Symbol:SLC34A3 ( FLJ38680,HHRH,NPTIIc )
Gene Full Name: solute carrier family 34 (sodium phosphate), member 3
Band: 9q34.3
Quick LinksEntrez ID:142680; OMIM: 609826; Uniprot ID:NPT2C_HUMAN; ENSEMBL ID: ENSG00000198569; HGNC ID: 20305
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IBA-cytoplasm-
GO:0005886TAS-plasma membrane-
GO:0005903IBA-brush border-
GO:0016021IEA-integral component of membrane-
GO:0016324IBA-apical plasma membrane-
GO:0016324ISS-apical plasma membrane11880379
GO:0031526IEA-brush border membrane-
GO:0031982IBA-vesicle-
GO ID Evidence Qualifier GO_term References
GO:0005436IDA-sodium:phosphate symporter activity11880379
GO:0015321IDA-sodium-dependent phosphate transmembrane transporter activity11880379
GO:0015321TAS-sodium-dependent phosphate transmembrane transporter activity-
GO ID Evidence Qualifier GO_term References
GO:0006814IDA-sodium ion transport11880379
GO:0006817IDA-phosphate ion transport11880379
GO:0030643IDA-cellular phosphate ion homeostasis16358214
GO:0035435IEA-phosphate ion transmembrane transport-
GO:0035725IEA-sodium ion transmembrane transport-
GO:0044341IEA-sodium-dependent phosphate transport-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SLC34A3PDZK111120014531806 Reconstituted Complex; Two-hybrid
SLC34A3PDZK112677114531806 Reconstituted Complex; Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2159410
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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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