AutismKB 2.0

Annotation Details for SNTB1


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Basic Information Top
Gene Symbol:SNTB1 ( 59-DAP,A1B,BSYN2,DAPA1B,FLJ22442,MGC111389,SNT2,SNT2B1,TIP-43 )
Gene Full Name: syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)
Band: 8q24.12
Quick LinksEntrez ID:6641; OMIM: 600026; Uniprot ID:SNTB1_HUMAN; ENSEMBL ID: ENSG00000172164; HGNC ID: 11168
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IEA-cytoplasm-
GO:0005856IEA-cytoskeleton-
GO:0005925IDA-focal adhesion21423176
GO:0016010TAS-dystrophin-associated glycoprotein complex8119949
GO:0042383IEA-sarcolemma-
GO:0043234IDA-protein complex18468998
GO:0045202IEA-synapse-
GO ID Evidence Qualifier GO_term References
GO:0003779IEA-actin binding-
GO:0005198IEA-structural molecule activity-
GO:0005515IPI-protein binding7844150
GO:0005516IEA-calmodulin binding-
GO:0030165IEA-PDZ domain binding-
GO ID Evidence Qualifier GO_term References
GO:0006936TAS-muscle contraction8183929
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SNTB1DMD1080967844150 Reconstituted Complex
SNTB1DMD1125247844150 Reconstituted Complex
SNTB1KCNJ1210997015024025 Affinity Capture-MS
SNTB1KCNJ1211252415024025 Affinity Capture-MS
SNTB1SCN5A1122369412493 Affinity Capture-Western
SNTB1SCN5A1125249412493 Affinity Capture-Western
DGKZSNTB111409511352924 Reconstituted Complex
DGKZSNTB111252411352924 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:101781
  • 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