AutismKB 2.0

Annotation Details for SLC6A7


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Basic Information Top
Gene Symbol:SLC6A7 ( PROT )
Gene Full Name: solute carrier family 6 (neurotransmitter transporter, L-proline), member 7
Band: 5q32
Quick LinksEntrez ID:6534; OMIM: 606205; Uniprot ID:SC6A7_HUMAN; ENSEMBL ID: ENSG00000011083; HGNC ID: 11054
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0005887TAS-integral component of plasma membrane7651355
GO:0016020TAS-membrane7651355
GO ID Evidence Qualifier GO_term References
GO:0005298TAS-proline:sodium symporter activity-
GO:0005328IEA-neurotransmitter:sodium symporter activity-
GO:0015193IBA-L-proline transmembrane transporter activity-
GO ID Evidence Qualifier GO_term References
GO:0006810TAS-transport7651355
GO:0006836IEA-neurotransmitter transport-
GO:0015824TAS-proline transport7651355
GO:0035524IEA-proline transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2147363
  • 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