AutismKB 2.0

Annotation Details for MAZ


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Basic Information Top
Gene Symbol:MAZ ( PUR1,Pur-1,SAF-1,SAF-2,SAF-3,ZF87,ZNF801,Zif87 )
Gene Full Name: MYC-associated zinc finger protein (purine-binding transcription factor)
Band: 16p11.2
Quick LinksEntrez ID:4150; OMIM: 600999; Uniprot ID:MAZ_HUMAN; ENSEMBL ID: ENSG00000103495; HGNC ID: 6914
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IEA-nucleus-
GO ID Evidence Qualifier GO_term References
GO:0000979IDA-RNA polymerase II core promoter sequence-specific DNA binding1502157
GO:0003723IDA-RNA binding22658674
GO:0005515IPI-protein binding11527412
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0006355IEA-regulation of transcription, DNA-templated-
GO:0006367IDA-transcription initiation from RNA polymerase II promoter1502157
GO:0006369IDA-termination of RNA polymerase II transcription1502157
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
MAZCSNK2A111032010448092 Biochemical Activity
MAZCSNK2A110784110448092 Biochemical Activity
MAZDCC11032011527412 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
MAZDCC10799811527412 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
MAZBPTF11032010727212 Reconstituted Complex; Two-hybrid
MAZBPTF10848110727212 Reconstituted Complex; Two-hybrid
MAZFOS11032019028685 Affinity Capture-Western; Far Western
MAZFOS10863619028685 Affinity Capture-Western; Far Western
MAZJUN11032019028685 Affinity Capture-Western; Far Western
MAZJUN10992819028685 Affinity Capture-Western; Far Western
KEAP1MAZ11032019615732 Affinity Capture-MS
KEAP1MAZ11515619615732 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1338823
  • 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