AutismKB 2.0

Annotation Details for SLC25A12


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Basic Information Top
Gene Symbol:SLC25A12 ( AGC1,ARALAR )
Gene Full Name: solute carrier family 25 (mitochondrial carrier, Aralar), member 12
Band: 2q31.1
Quick LinksEntrez ID:8604; OMIM: 603667; Uniprot ID:CMC1_HUMAN; ENSEMBL ID: ENSG00000115840; HGNC ID: 10982
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005739IDA-mitochondrion9722566
GO:0005743IBA-mitochondrial inner membrane-
GO:0005743TAS-mitochondrial inner membrane-
GO:0016021IBA-integral component of membrane-
GO:0016021NAS-integral component of membrane9722566
GO:0043209IEA-myelin sheath-
GO ID Evidence Qualifier GO_term References
GO:0005313IDA-L-glutamate transmembrane transporter activity11566871
GO:0005509IDA-calcium ion binding9722566
GO:0015172TAS-acidic amino acid transmembrane transporter activity-
GO:0015183IDA-L-aspartate transmembrane transporter activity11566871
GO ID Evidence Qualifier GO_term References
GO:0006094TAS-gluconeogenesis-
GO:0015810IDA-aspartate transport11566871
GO:0015813IDA-L-glutamate transport11566871
GO:0043490IDA-malate-aspartate shuttle11566871
GO:0051592IDA-response to calcium ion11566871
GO:0089711IEA-L-glutamate transmembrane transport-
GO:0089712IEA-L-aspartate transmembrane transport-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PNKPSLC25A1211644017353931 Affinity Capture-MS
PNKPSLC25A1211416417353931 Affinity Capture-MS
PHLDA3SLC25A1211714517353931 Affinity Capture-MS
PHLDA3SLC25A1211416417353931 Affinity Capture-MS
PELOSLC25A1211416417353931 Affinity Capture-MS
PELOSLC25A1211981817353931 Affinity Capture-MS
C20orf24SLC25A1212101517353931 Affinity Capture-MS
C20orf24SLC25A1211416417353931 Affinity Capture-MS
SRGAP2SLC25A1211695619041431 Affinity Capture-MS
SRGAP2SLC25A1211416419041431 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
SLC25A12rs11575, rs1878583, rs3765166, rs3770455, rs7608403, rs908671 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:1926080
  • 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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