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SLC25A12 (solute carrier family 25 member 12)

Identity

Other aliasAGC1
ARALAR
EIEE39
HGNC (Hugo) SLC25A12
LocusID (NCBI) 8604
Atlas_Id 57252
Location 2q31.1  [Link to chromosome band 2q31]
Location_base_pair Starts at 171784370 and ends at 171894235 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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 member 12
AliasesAGC1; ARALAR; EIEE39
GeneCards (Weizmann)SLC25A12
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr2:171784370-171894235 [Contig_View]  SLC25A12 [Vega]
TCGA cBioPortalSLC25A12
AceView (NCBI)SLC25A12
Genatlas (Paris)SLC25A12
WikiGenes8604
SOURCE (Princeton)SLC25A12
Genetics Home Reference (NIH)SLC25A12
Genomic and cartography
GoldenPath hg38 (UCSC)SLC25A12  -     chr2:171784370-171894235 -  2q31.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC25A12  -     2q31.1   [Description]    (hg19-Feb_2009)
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)
Consensus coding sequences : CCDS (NCBI)SLC25A12
Cluster EST : UnigeneHs.470608 [ NCBI ]
CGAP (NCI)Hs.470608
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]
GenevestigatorExpression 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)Mito_carr (PF00153)   
Domain families : Pfam (NCBI)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
Peptide AtlasO75746
IPIIPI00386271   IPI01009336   IPI00977012   IPI00916395   IPI00911062   IPI01011990   
Protein Interaction databases
DIP (DOE-UCLA)O75746
IntAct (EBI)O75746
BioGRIDSLC25A12
STRING (EMBL)SLC25A12
ZODIACSLC25A12
Ontologies - Pathways
QuickGOO75746
Ontology : AmiGOL-glutamate transmembrane transporter activity  calcium ion binding  mitochondrion  mitochondrial inner membrane  mitochondrial inner membrane  gluconeogenesis  acidic amino acid transmembrane transporter activity  L-aspartate transmembrane transporter activity  aspartate transport  L-glutamate transport  integral component of membrane  integral component of membrane  myelin sheath  malate-aspartate shuttle  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  mitochondrial inner membrane  gluconeogenesis  acidic amino acid transmembrane transporter activity  L-aspartate transmembrane transporter activity  aspartate transport  L-glutamate transport  integral component of membrane  integral component of membrane  myelin sheath  malate-aspartate shuttle  response to calcium ion  L-glutamate transmembrane transport  L-aspartate transmembrane transport  
NDEx NetworkSLC25A12
Atlas of Cancer Signalling NetworkSLC25A12
Wikipedia pathwaysSLC25A12
Orthology - Evolution
OrthoDB8604
Phylogenetic Trees/Animal Genes : TreeFamSLC25A12
HOVERGENO75746
HOGENOMO75746
Homologs : HomoloGeneSLC25A12
Homology/Alignments : Family Browser (UCSC)SLC25A12
Gene fusions - Rearrangements
Tumor Fusion PortalSLC25A12
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)
Genetic variants : HAPMAP8604
Genomic Variants (DGV)SLC25A12 [DGVbeta]
DECIPHERSLC25A12 [patients]   [syndromes]   [variants]   [genes]  
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
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   
Orphanet
DisGeNETSLC25A12
MedgenSLC25A12
Genetic Testing Registry SLC25A12
NextProtO75746 [Medical]
TSGene8604
GENETestsSLC25A12
Target ValidationSLC25A12
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
PubMed58 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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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:34:57 CET 2017

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