Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC25A12 (solute carrier family 25 (aspartate/glutamate carrier), member 12)

Identity

Alias_namessolute carrier family 25 (mitochondrial carrier, Aralar), member 12
solute carrier family 25 (aspartate/glutamate carrier), member 12
Alias_symbol (synonym)Aralar
Other aliasAGC1
ARALAR
HGNC (Hugo) SLC25A12
LocusID (NCBI) 8604
Atlas_Id 73336
Location 2q31.1  [Link to chromosome band 2q31]
Location_base_pair Starts at 172639915 and ends at 172750816 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SLC25A12 (2q31.1) / ARL14EP (11p14.1)SLC25A12 (2q31.1) / SLC25A12 (2q31.1)SPATS1 (6p21.1) / SLC25A12 (2q31.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SLC25A12   10982
Cards
Entrez_Gene (NCBI)SLC25A12  8604  solute carrier family 25 (aspartate/glutamate carrier), member 12
AliasesAGC1; ARALAR
GeneCards (Weizmann)SLC25A12
Ensembl hg19 (Hinxton)ENSG00000115840 [Gene_View]  chr2:172639915-172750816 [Contig_View]  SLC25A12 [Vega]
Ensembl hg38 (Hinxton)ENSG00000115840 [Gene_View]  chr2:172639915-172750816 [Contig_View]  SLC25A12 [Vega]
ICGC DataPortalENSG00000115840
TCGA cBioPortalSLC25A12
AceView (NCBI)SLC25A12
Genatlas (Paris)SLC25A12
WikiGenes8604
SOURCE (Princeton)SLC25A12
Genetics Home Reference (NIH)SLC25A12
Genomic and cartography
GoldenPath hg19 (UCSC)SLC25A12  -     chr2:172639915-172750816 -  2q31.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SLC25A12  -     2q31.1   [Description]    (hg38-Dec_2013)
EnsemblSLC25A12 - 2q31.1 [CytoView hg19]  SLC25A12 - 2q31.1 [CytoView hg38]
Mapping of homologs : NCBISLC25A12 [Mapview hg19]  SLC25A12 [Mapview hg38]
OMIM603667   612949   
Gene and transcription
Genbank (Entrez)AJ496568 AK022828 AK054941 AK091071 AK294638
RefSeq transcript (Entrez)NM_003705
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_011781 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)SLC25A12
Cluster EST : UnigeneHs.470608 [ NCBI ]
CGAP (NCI)Hs.470608
Alternative Splicing GalleryENSG00000115840
Gene ExpressionSLC25A12 [ NCBI-GEO ]   SLC25A12 [ EBI - ARRAY_EXPRESS ]   SLC25A12 [ SEEK ]   SLC25A12 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC25A12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8604
GTEX Portal (Tissue expression)SLC25A12
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75746   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75746  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75746
Splice isoforms : SwissVarO75746
PhosPhoSitePlusO75746
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    SOLCAR (PS50920)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    Mit_carrier    Mitochondrial_sb/sol_carrier    Mt_carrier_dom   
Domain families : Pfam (Sanger)EF-hand_6 (PF13405)    Mito_carr (PF00153)   
Domain families : Pfam (NCBI)pfam13405    pfam00153   
Domain families : Smart (EMBL)EFh (SM00054)  
Conserved Domain (NCBI)SLC25A12
DMDM Disease mutations8604
Blocks (Seattle)SLC25A12
PDB (SRS)4P5X    4P60   
PDB (PDBSum)4P5X    4P60   
PDB (IMB)4P5X    4P60   
PDB (RSDB)4P5X    4P60   
Structural Biology KnowledgeBase4P5X    4P60   
SCOP (Structural Classification of Proteins)4P5X    4P60   
CATH (Classification of proteins structures)4P5X    4P60   
SuperfamilyO75746
Human Protein AtlasENSG00000115840
Peptide AtlasO75746
HPRD04719
IPIIPI00386271   IPI01009336   IPI00977012   IPI00916395   IPI00911062   IPI01011990   
Protein Interaction databases
DIP (DOE-UCLA)O75746
IntAct (EBI)O75746
FunCoupENSG00000115840
BioGRIDSLC25A12
STRING (EMBL)SLC25A12
ZODIACSLC25A12
Ontologies - Pathways
QuickGOO75746
Ontology : AmiGOL-glutamate transmembrane transporter activity  calcium ion binding  mitochondrion  mitochondrial inner membrane  carbohydrate metabolic process  glucose metabolic process  gluconeogenesis  L-aspartate transmembrane transporter activity  aspartate transport  L-glutamate transport  integral component of membrane  malate-aspartate shuttle  small molecule metabolic process  response to calcium ion  L-glutamate transmembrane transport  L-aspartate transmembrane transport  
Ontology : EGO-EBIL-glutamate transmembrane transporter activity  calcium ion binding  mitochondrion  mitochondrial inner membrane  carbohydrate metabolic process  glucose metabolic process  gluconeogenesis  L-aspartate transmembrane transporter activity  aspartate transport  L-glutamate transport  integral component of membrane  malate-aspartate shuttle  small molecule metabolic process  response to calcium ion  L-glutamate transmembrane transport  L-aspartate transmembrane transport  
NDEx NetworkSLC25A12
Atlas of Cancer Signalling NetworkSLC25A12
Wikipedia pathwaysSLC25A12
Orthology - Evolution
OrthoDB8604
GeneTree (enSembl)ENSG00000115840
Phylogenetic Trees/Animal Genes : TreeFamSLC25A12
HOVERGENO75746
HOGENOMO75746
Homologs : HomoloGeneSLC25A12
Homology/Alignments : Family Browser (UCSC)SLC25A12
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC25A12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC25A12
dbVarSLC25A12
ClinVarSLC25A12
1000_GenomesSLC25A12 
Exome Variant ServerSLC25A12
ExAC (Exome Aggregation Consortium)SLC25A12 (select the gene name)
Genetic variants : HAPMAP8604
Genomic Variants (DGV)SLC25A12 [DGVbeta]
DECIPHER (Syndromes)2:172639915-172750816  ENSG00000115840
CONAN: Copy Number AnalysisSLC25A12 
Mutations
ICGC Data PortalSLC25A12 
TCGA Data PortalSLC25A12 
Broad Tumor PortalSLC25A12
OASIS PortalSLC25A12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC25A12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC25A12
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch SLC25A12
DgiDB (Drug Gene Interaction Database)SLC25A12
DoCM (Curated mutations)SLC25A12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC25A12 (select a term)
intoGenSLC25A12
Cancer3DSLC25A12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603667    612949   
Orphanet22119   
MedgenSLC25A12
Genetic Testing Registry SLC25A12
NextProtO75746 [Medical]
TSGene8604
GENETestsSLC25A12
Huge Navigator SLC25A12 [HugePedia]
snp3D : Map Gene to Disease8604
BioCentury BCIQSLC25A12
ClinGenSLC25A12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8604
Chemical/Pharm GKB GenePA35858
Clinical trialSLC25A12
Miscellaneous
canSAR (ICR)SLC25A12 (select the gene name)
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC25A12
EVEXSLC25A12
GoPubMedSLC25A12
iHOPSLC25A12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:43:28 CET 2017

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