AutismKB 2.0

Annotation Details for IGHMBP2


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Basic Information Top
Gene Symbol:IGHMBP2 ( CATF1,FLJ34220,FLJ41171,HCSA,HMN6,SMARD1,SMUBP2 )
Gene Full Name: immunoglobulin mu binding protein 2
Band: 11q13.3
Quick LinksEntrez ID:3508; OMIM: 600502; Uniprot ID:SMBP2_HUMAN; ENSEMBL ID: ENSG00000132740; HGNC ID: 5542
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus19299493
GO:0005737IDA-cytoplasm19299493
GO:0016020IDA-membrane19946888
GO:0030424ISS-axon-
GO:0030426ISS-growth cone-
GO:0030529ISS-intracellular ribonucleoprotein complex-
GO:0032797IDANOT colocalizes_withSMN complex19299493
GO ID Evidence Qualifier GO_term References
GO:0000049IDA-tRNA binding19299493
GO:0003677IDA-DNA binding19158098
GO:0003678TAS-DNA helicase activity8349627
GO:0003697TAS-single-stranded DNA binding8349627
GO:0003723IDA-RNA binding19158098
GO:0005515IPI-protein binding19299493
GO:0005524IDA-ATP binding19158098
GO:0008094IDA-DNA-dependent ATPase activity19158098
GO:0008134IPI-transcription factor binding19299493
GO:0008186IDA-RNA-dependent ATPase activity19158098
GO:0008270IEA-zinc ion binding-
GO:0032575IDA-ATP-dependent 5'-3' RNA helicase activity19158098
GO:0043022IDA-ribosome binding19158098
GO:0043141IDA-ATP-dependent 5'-3' DNA helicase activity19158098
GO ID Evidence Qualifier GO_term References
GO:0006260TAS-DNA replication8493094
GO:0006281TAS-DNA repair8493094
GO:0006310TAS-DNA recombination8349627
GO:0006351IEA-transcription, DNA-templated-
GO:0006355IEA-regulation of transcription, DNA-templated-
GO:0006412NAS-translation19299493
GO:0032508IEA-DNA duplex unwinding-
GO:0051260IDA-protein homooligomerization19299493
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
NAA38IGHMBP210972815231747 Two-hybrid
NAA38IGHMBP211967915231747 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:99954
  • 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


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