AutismKB 2.0

Annotation Details for ASPH


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Basic Information Top
Gene Symbol:ASPH ( AAH,BAH,CASQ2BP1,HAAH,JCTN,junctin )
Gene Full Name: aspartate beta-hydroxylase
Band: 8q12.3
Quick LinksEntrez ID:444; OMIM: 600582; Uniprot ID:ASPH_HUMAN; ENSEMBL ID: ENSG00000198363; HGNC ID: 757
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005783IDA-endoplasmic reticulum-
GO:0005789NAS-endoplasmic reticulum membrane11007777
GO:0005789TAS-endoplasmic reticulum membrane-
GO:0005886IDA-plasma membrane21062895
GO:0016021IEA-integral component of membrane-
GO:0032541IDA-cortical endoplasmic reticulum21062895
GO:0033017IEA-sarcoplasmic reticulum membrane-
GO ID Evidence Qualifier GO_term References
GO:0004597IEA-peptide-aspartate beta-dioxygenase activity-
GO:0005198TAS-structural molecule activity11007777
GO:0005509NAS-calcium ion binding11007777
GO:0005515IPI-protein binding22586105
GO:0008307TAS-structural constituent of muscle11007777
GO:0009055TAS-electron carrier activity7821814
GO ID Evidence Qualifier GO_term References
GO:0006936TAS-muscle contraction10974562
GO:0007389IEA-pattern specification process-
GO:0008285IEA-negative regulation of cell proliferation-
GO:0031647IEA-regulation of protein stability-
GO:0034220TAS-ion transmembrane transport-
GO:0035108IEA-limb morphogenesis-
GO:0042264IEA-peptidyl-aspartic acid hydroxylation-
GO:0045862IDA-positive regulation of proteolysis18387192
GO:0055114IEA-oxidation-reduction process-
GO:0060021IEA-palate development-
GO:0060325IEA-face morphogenesis-
GO:0097202IDA-activation of cysteine-type endopeptidase activity18387192
GO:1901879IEA-regulation of protein depolymerization-
GO:1903779TAS-regulation of cardiac conduction-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SQSTM1ASPH11439720562859 Affinity Capture-MS
SQSTM1ASPH10693620562859 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1914186
  • 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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