AutismKB 2.0

Annotation Details for EFHA1


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Basic Information Top
Gene Symbol:EFHA1 ( 1110008L20Rik,FLJ25016,FLJ34588 )
Gene Full Name: EF-hand domain family, member A1
Band: 13q12.11
Quick LinksEntrez ID:221154; OMIM: 610632; Uniprot ID:EFHA1_HUMAN; ENSEMBL ID: ENSG00000165487; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus-
GO:0005739IDA-mitochondrion-
GO:0005739ISS-mitochondrion-
GO:0005743IDA-mitochondrial inner membrane27099988
GO:0005743TAS-mitochondrial inner membrane-
GO:0005758IDA-mitochondrial intermembrane space22925203
GO:0034704ISS-calcium channel complex-
GO:1990246IDA-uniplex complex22925203
GO ID Evidence Qualifier GO_term References
GO:0005509IEA-calcium ion binding-
GO:0005515IPI-protein binding24560927
GO:0046982IPI-protein heterodimerization activity24560927
GO ID Evidence Qualifier GO_term References
GO:0006851IDA-mitochondrial calcium ion transmembrane transport24560927
GO:0006851TAS-mitochondrial calcium ion transmembrane transport-
GO:0036444IMP-mitochondrial calcium uptake26903221
GO:0051560IMP-mitochondrial calcium ion homeostasis26903221
GO:0051561IEA-positive regulation of mitochondrial calcium ion concentration-
GO:0051562IDA-negative regulation of mitochondrial calcium ion concentration24560927
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1915764
  • Data Attributes: MGI curated and HomoloGene calculated
No data
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  (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