Annotation Details for SLC25A18

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Basic Information Top

Gene Symbol:	SLC25A18 ( GC2 )
Gene Full Name:	solute carrier family 25 (mitochondrial carrier), member 18
Band:	22q11.21
Quick Links	Entrez ID:83733; OMIM: 609303; Uniprot ID:GHC2_HUMAN; ENSEMBL ID: ENSG00000182902; HGNC ID: 10988
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

AlzGene, PDGene and SZGene

Gene Ontology

Cellular Component:3 results
Molecular Function:3 results
Biological Process:4 results

GO ID	Evidence	Qualifier	GO_term	References
GO:0005743	IBA	-	mitochondrial inner membrane	-
GO:0005743	TAS	-	mitochondrial inner membrane	-
GO:0016021	IBA	-	integral component of membrane	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0005280	TAS	-	hydrogen:amino acid symporter activity	-
GO:0005314	IBA	-	high-affinity glutamate transmembrane transporter activity	-
GO:0005515	IPI	-	protein binding	25416956

GO ID	Evidence	Qualifier	GO_term	References
GO:0006811	TAS	-	ion transport	-
GO:0006839	IBA	-	mitochondrial transport	-
GO:0015992	IEA	-	proton transport	-
GO:0089711	IEA	-	L-glutamate transmembrane transport	-

Protein-Protein Interaction

AlzGene, PDGene and SZGene

Animal Model

Mouse:1 results
Fruit Fly:0 results

MGI ID: MGI:1919053
Data Attributes: MGI curated and HomoloGene calculated

Simple Query:

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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