AutismKB 2.0

Annotation Details for MARVELD3


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Basic Information Top
Gene Symbol:MARVELD3 ( FLJ32280,MARVD3,MRVLDC3 )
Gene Full Name: MARVEL domain containing 3
Band: 16q22.2
Quick LinksEntrez ID:91862; OMIM: NA; Uniprot ID:MALD3_HUMAN; ENSEMBL ID: ENSG00000140832; HGNC ID: 30525
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005923IDA-bicellular tight junction20028514
GO:0016021IEA-integral component of membrane-
GO:0031410IDA-cytoplasmic vesicle20164257
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding20164257
GO:0031435IDA-mitogen-activated protein kinase kinase kinase binding24567356
GO ID Evidence Qualifier GO_term References
GO:0006970IMP-response to osmotic stress24567356
GO:0010633IMP-negative regulation of epithelial cell migration24567356
GO:0045216IMP-cell-cell junction organization20164257
GO:0046329IMP-negative regulation of JNK cascade24567356
GO:0050680IMP-negative regulation of epithelial cell proliferation24567356
GO:0070830IMP-bicellular tight junction assembly20164257
GO:1902414IMP-protein localization to cell junction24567356
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1920858
  • 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