AutismKB


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Annotation Detail for SLC6A4


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Basic Information Top
Gene Symbol:SLC6A4 ( 5-HTT,5-HTTLPR,5HTT,HTT,OCD1,SERT,hSERT )
Gene Full Name: solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
Band: 17q11.2
Quick LinksEntrez ID:6532; OMIM: 182138; Uniprot ID:SC6A4_HUMAN; ENSEMBL ID: ENSG00000108576
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005624IEA-membrane fraction-
GO:0005768IEA-endosome-
GO:0005829IDA-cytosol19270731
GO:0005886IDA-plasma membrane16870614
GO:0005887IC-integral to plasma membrane19270731
GO:0010008IEA-endosome membrane-
GO:0012505IDA-endomembrane system17506858
GO:0045121IDA-membrane raft16870614
GO ID Evidence Qualifier GO_term References
GO:0005335IDA-serotonin:sodium symporter activity8987735
GO:0005335IMP-serotonin:sodium symporter activity19270731
GO:0005515IPI-protein binding16870614
GO:0008504IDA-monoamine transmembrane transporter activity16024787
GO:0015222IDA-serotonin transmembrane transporter activity8987735
GO:0015222IMP-serotonin transmembrane transporter activity19270731
GO:0015293IEA-symporter activity-
GO:0017022IEA-myosin binding-
GO:0017075IEA-syntaxin-1 binding-
GO:0017137IPI-Rab GTPase binding18227069
GO:0019811IEA-cocaine binding-
GO:0042803IEA-protein homodimerization activity-
GO:0050998IEA-nitric-oxide synthase binding-
GO:0051015ISS-actin filament binding-
GO ID Evidence Qualifier GO_term References
GO:0006836IEA-neurotransmitter transport-
GO:0006837IDA-serotonin transport19270731
GO:0006837IMP-serotonin transport19270731
GO:0009636IDA-response to toxin17575980
GO:0010628IEA-positive regulation of gene expression-
GO:0015844IDA-monoamine transport16024787
GO:0021794IMP-thalamus development18378990
GO:0045787IEA-positive regulation of cell cycle-
GO:0051259ISS-protein oligomerization-
GO:0051260IEA-protein homooligomerization-
GO:0051610IDA-serotonin uptake16870614
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SLC6A4CALR11242310364189 Reconstituted Complex
SLC6A4CALR10726210364189 Reconstituted Complex
SLC6A4CANX11242310364189 Reconstituted Complex
SLC6A4CANX10727110364189 Reconstituted Complex
STX1ASLC6A411267612175857 Affinity Capture-Western
STX1ASLC6A411242312175857 Affinity Capture-Western
No data
No data
Genomic Variants Top
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
SLC6A4intron2-VNTR, rs4795541 Gene overview in AlzGene
Gene Symbol Poly Names Gene overview in PDGene
SLC6A4rs25531, rs3794808, rs4795541, rs71360731 Gene overview in PDGene
Gene Symbol Poly Names Gene overview in SZGene
SLC6A45-HTTLPR, 5-HTTVNTR, rs1042173, rs1050565, rs11080121, rs140700, rs140701, rs2020934, rs2020942, rs2054847, rs2066713, rs25531, rs3794808, rs3813034, rs6352 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:96285
  • Data Attributes: MGI curated and HomoloGene calculated
MGI Allele ID Allele Symbol Allele Source Allele Type / Mutant Cell line ID
MGI:2178613Slc6a4[tm1Kpl]Allele from Mouse Targeted (knock-out)
  • nervous system phenotype
  • muscle phenotype
  • homeostasis/metabolism phenotype
  • growth/size phenotype
  • endocrine/exocrine gland phenotype
  • cardiovascular system phenotype
  • behavior/neurological phenotype
MGI:3628526Slc6a4[Gt1(IRESBetageo)lLex]Allele from Mouse Gene trapped
  • behavior/neurological phenotype
MGI:3629666Slc6a4[tm1Grch]Allele from Mouse Targeted (knock-out)
  • nervous system phenotype
  • behavior/neurological phenotype
MGI:3663166Slc6a4[tm1(cre)Grch]Allele from Mouse Targeted (knock-in)
  • behavior/neurological phenotype
MGI:3691577Slc6a4[tm1(cre)Xz]Allele from Mouse Targeted (knock-in)
  • normal phenotype
  • cardiovascular system phenotype
MGI:3800924Slc6a4[tm1(tTA)Cogr]Allele from Mouse Targeted (knock-in)
  • nervous system phenotype
  • homeostasis/metabolism phenotype
  • cardiovascular system phenotype

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  (e.g. NLGN4X)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
  • Click to Download Data

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