AutismKB 2.0

Annotation Details for EPB49


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Basic Information Top
Gene Symbol:EPB49 ( DMT,FLJ78462,FLJ98848 )
Gene Full Name: erythrocyte membrane protein band 4.9 (dematin)
Band: 8p21.1
Quick LinksEntrez ID:2039; OMIM: 125305; Uniprot ID:DEMA_HUMAN; ENSEMBL ID: ENSG00000158856; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829IDA-cytosol23060452
GO:0005829TAS-cytosol-
GO:0005884IDA-actin filament22927433
GO:0005886IDA-plasma membrane23060452
GO:0012505IEA-endomembrane system-
GO:0014069IEA-postsynaptic density-
GO:0014731IDA-spectrin-associated cytoskeleton22927433
GO:0015629TAS-actin cytoskeleton8341682
GO:0030863IEA-cortical cytoskeleton-
GO:0031095IDA-platelet dense tubular network membrane23060452
GO:0031253ISS-cell projection membrane-
GO:0031410IDA-cytoplasmic vesicle18347014
GO:0048471ISS-perinuclear region of cytoplasm-
GO ID Evidence Qualifier GO_term References
GO:0003779IDA-actin binding22927433
GO:0005102IDA-receptor binding18347014
GO:0005515IPI-protein binding18347014
GO:0030507IDA-spectrin binding22927433
GO:0043621IEA-protein self-association-
GO ID Evidence Qualifier GO_term References
GO:0006461IDA-protein complex assembly18347014
GO:0006461ISS-protein complex assembly-
GO:0007010TAS-cytoskeleton organization7615546
GO:0008360IMP-regulation of cell shape10565303
GO:0010591IMP-regulation of lamellipodium assembly10565303
GO:0010763ISS-positive regulation of fibroblast migration-
GO:0010801ISS-negative regulation of peptidyl-threonine phosphorylation-
GO:0010812ISS-negative regulation of cell-substrate adhesion-
GO:0030036ISS-actin cytoskeleton organization-
GO:0030194ISS-positive regulation of blood coagulation-
GO:0032956IDA-regulation of actin cytoskeleton organization22927433
GO:0033137ISS-negative regulation of peptidyl-serine phosphorylation-
GO:0035584ISS-calcium-mediated signaling using intracellular calcium source-
GO:0035585ISS-calcium-mediated signaling using extracellular calcium source-
GO:0035585ISSNOTcalcium-mediated signaling using extracellular calcium source-
GO:0048821ISS-erythrocyte development-
GO:0050732ISS-negative regulation of peptidyl-tyrosine phosphorylation-
GO:0051017TAS-actin filament bundle assembly7615546
GO:0051489IMP-regulation of filopodium assembly10565303
GO:0051693IEA-actin filament capping-
GO:0051895ISS-negative regulation of focal adhesion assembly-
GO:0055085TAS-transmembrane transport-
GO:0070560ISS-protein secretion by platelet-
GO:0071277ISS-cellular response to calcium ion-
GO:0071320IDA-cellular response to cAMP22927433
GO:0090303ISS-positive regulation of wound healing-
GO:0090315ISS-negative regulation of protein targeting to membrane-
GO:0090527ISS-actin filament reorganization-
GO:1900025ISS-negative regulation of substrate adhesion-dependent cell spreading-
GO:1900026ISS-positive regulation of substrate adhesion-dependent cell spreading-
GO:1901731ISS-positive regulation of platelet aggregation-
GO:2001046ISS-positive regulation of integrin-mediated signaling pathway-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
EPB49DYNC1LI210835316169070 Two-hybrid
EPB49DYNC1LI210812016169070 Two-hybrid
PROCREPB4910835316169070 Two-hybrid
PROCREPB4911579716169070 Two-hybrid
PTOV1EPB4910835316169070 Two-hybrid
PTOV1EPB4911979216169070 Two-hybrid
SNCAEPB4910835318541383 Reconstituted Complex
SNCAEPB4911250618541383 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:99670
  • 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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