AutismKB 2.0

Annotation Details for JPH4


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Basic Information Top
Gene Symbol:JPH4 ( FLJ34253,JP4,JPHL1,KIAA1831 )
Gene Full Name: junctophilin 4
Band: 14q11.2
Quick LinksEntrez ID:84502; OMIM: NA; Uniprot ID:JPH4_HUMAN; ENSEMBL ID: ENSG00000092051; HGNC ID: 20156
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005790IEA-smooth endoplasmic reticulum-
GO:0005886IEA-plasma membrane-
GO:0014701TAS-junctional sarcoplasmic reticulum membrane19095005
GO:0016021IEA-integral component of membrane-
GO:0030314IEA-junctional membrane complex-
GO:0043198IEA-dendritic shaft-
No data
GO ID Evidence Qualifier GO_term References
GO:0001817IEA-regulation of cytokine production-
GO:0007612IEA-learning-
GO:0048167IEA-regulation of synaptic plasticity-
GO:0050885IEA-neuromuscular process controlling balance-
GO:0060314TAS-regulation of ryanodine-sensitive calcium-release channel activity19095005
GO:0060402TAS-calcium ion transport into cytosol19095005
GO:2001256IEA-regulation of store-operated calcium entry-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2443113
  • Data Attributes: 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