AutismKB 2.0

Annotation Details for FXYD2


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Basic Information Top
Gene Symbol:FXYD2 ( ATP1G1,HOMG2,MGC12372 )
Gene Full Name: FXYD domain containing ion transport regulator 2
Band: 11q23.3
Quick LinksEntrez ID:486; OMIM: 601814; Uniprot ID:ATNG_HUMAN; ENSEMBL ID: ENSG00000137731; HGNC ID: 4026
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0005887IBA-integral component of plasma membrane-
GO:0005890ISS-sodium:potassium-exchanging ATPase complex-
GO:0016323IEA-basolateral plasma membrane-
GO:0043231IEA-intracellular membrane-bounded organelle-
GO:0070062IDA-extracellular exosome19056867
GO ID Evidence Qualifier GO_term References
GO:0005215TAS-transporter activity9048881
GO:0005216IEA-ion channel activity-
GO:0005391IEA-sodium:potassium-exchanging ATPase activity-
GO:0017080IBA-sodium channel regulator activity-
GO ID Evidence Qualifier GO_term References
GO:0001558IEA-regulation of cell growth-
GO:0006810TAS-transport9048881
GO:0010248IEA-establishment or maintenance of transmembrane electrochemical gradient-
GO:0034220TAS-ion transmembrane transport-
GO:0036376ISS-sodium ion export from cell-
GO:0042127IEA-regulation of cell proliferation-
GO:0090662ISS-ATP hydrolysis coupled transmembrane transport-
GO:1903779TAS-regulation of cardiac conduction-
GO:1990573ISS-potassium ion import across plasma membrane-
GO:2000649IBA-regulation of sodium ion transmembrane transporter activity-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
FXYD2D11S1998, rs11216567, rs11999, rs4579962, rs479991, rs529623, rs678776, rs869789 Gene overview in SZGene
Animal Model Top
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