AutismKB 2.0

Annotation Details for HBZ


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Basic Information Top
Gene Symbol:HBZ ( - )
Gene Full Name: hemoglobin, zeta
Band: 16p13.3
Quick LinksEntrez ID:3050; OMIM: 142310; Uniprot ID:HBAZ_HUMAN; ENSEMBL ID: ENSG00000130656; HGNC ID: 4835
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005833IEA-hemoglobin complex-
GO:0070062IDA-extracellular exosome23533145
GO ID Evidence Qualifier GO_term References
GO:0005344IEA-oxygen transporter activity-
GO:0005506IEA-iron ion binding-
GO:0005515IPI-protein binding6683087
GO:0019825IEA-oxygen binding-
GO:0020037IEA-heme binding-
GO ID Evidence Qualifier GO_term References
GO:0000122IEA-negative regulation of transcription from RNA polymerase II promoter-
GO:0015671IEA-oxygen transport-
GO:0043249IEA-erythrocyte maturation-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
HBZFGFR310930016169070 Two-hybrid
HBZFGFR310855216169070 Two-hybrid
JUNDHBZ10930018078517 Affinity Capture-Western
JUNDHBZ10993018078517 Affinity Capture-Western
SP1HBZ10930018078517 Affinity Capture-Western; Reconstituted Complex
SP1HBZ11255018078517 Affinity Capture-Western; Reconstituted Complex
IKBKGHBZ10930020098747 Reconstituted Complex
IKBKGHBZ11408920098747 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:96019
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (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