Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC25A19 (solute carrier family 25 member 19)

Identity

Alias_namesMCPHA
solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19
microcephaly, Amish
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
Alias_symbol (synonym)DNC
MUP1
TPC
Other aliasTHMD3
THMD4
HGNC (Hugo) SLC25A19
LocusID (NCBI) 60386
Atlas_Id 53717
Location 17q25.1  [Link to chromosome band 17q25]
Location_base_pair Starts at 75272980 and ends at 75289449 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)
SLC25A19 (17q25.1) / HPR (16q22.2)

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)SLC25A19   14409
Cards
Entrez_Gene (NCBI)SLC25A19  60386  solute carrier family 25 member 19
AliasesDNC; MCPHA; MUP1; THMD3; 
THMD4; TPC
GeneCards (Weizmann)SLC25A19
Ensembl hg19 (Hinxton)ENSG00000125454 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000125454 [Gene_View]  chr17:75272980-75289449 [Contig_View]  SLC25A19 [Vega]
ICGC DataPortalENSG00000125454
TCGA cBioPortalSLC25A19
AceView (NCBI)SLC25A19
Genatlas (Paris)SLC25A19
WikiGenes60386
SOURCE (Princeton)SLC25A19
Genetics Home Reference (NIH)SLC25A19
Genomic and cartography
GoldenPath hg38 (UCSC)SLC25A19  -     chr17:75272980-75289449 -  17q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC25A19  -     17q25.1   [Description]    (hg19-Feb_2009)
EnsemblSLC25A19 - 17q25.1 [CytoView hg19]  SLC25A19 - 17q25.1 [CytoView hg38]
Mapping of homologs : NCBISLC25A19 [Mapview hg19]  SLC25A19 [Mapview hg38]
OMIM606521   607196   613710   
Gene and transcription
Genbank (Entrez)AA743427 AF182404 AJ251857 AK075239 AK097882
RefSeq transcript (Entrez)NM_001126121 NM_001126122 NM_021734
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC25A19
Cluster EST : UnigeneHs.514470 [ NCBI ]
CGAP (NCI)Hs.514470
Alternative Splicing GalleryENSG00000125454
Gene ExpressionSLC25A19 [ NCBI-GEO ]   SLC25A19 [ EBI - ARRAY_EXPRESS ]   SLC25A19 [ SEEK ]   SLC25A19 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC25A19 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)60386
GTEX Portal (Tissue expression)SLC25A19
Human Protein AtlasENSG00000125454-SLC25A19 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HC21   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HC21  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HC21
Splice isoforms : SwissVarQ9HC21
PhosPhoSitePlusQ9HC21
Domaine pattern : Prosite (Expaxy)SOLCAR (PS50920)   
Domains : Interpro (EBI)Mit_carrier    Mitochondrial_sb/sol_carrier    Mt_carrier_dom   
Domain families : Pfam (Sanger)Mito_carr (PF00153)   
Domain families : Pfam (NCBI)pfam00153   
Conserved Domain (NCBI)SLC25A19
DMDM Disease mutations60386
Blocks (Seattle)SLC25A19
SuperfamilyQ9HC21
Human Protein Atlas [tissue]ENSG00000125454-SLC25A19 [tissue]
Peptide AtlasQ9HC21
HPRD08405
IPIIPI00028068   IPI00433339   
Protein Interaction databases
DIP (DOE-UCLA)Q9HC21
IntAct (EBI)Q9HC21
FunCoupENSG00000125454
BioGRIDSLC25A19
STRING (EMBL)SLC25A19
ZODIACSLC25A19
Ontologies - Pathways
QuickGOQ9HC21
Ontology : AmiGOnucleus  mitochondrial inner membrane  mitochondrial transport  thiamine transmembrane transporter activity  deoxynucleotide transmembrane transporter activity  deoxynucleotide transport  thiamine pyrophosphate transport  integral component of mitochondrial inner membrane  thiamine-containing compound metabolic process  thiamine transmembrane transport  thiamine pyrophosphate transporter activity  
Ontology : EGO-EBInucleus  mitochondrial inner membrane  mitochondrial transport  thiamine transmembrane transporter activity  deoxynucleotide transmembrane transporter activity  deoxynucleotide transport  thiamine pyrophosphate transport  integral component of mitochondrial inner membrane  thiamine-containing compound metabolic process  thiamine transmembrane transport  thiamine pyrophosphate transporter activity  
NDEx NetworkSLC25A19
Atlas of Cancer Signalling NetworkSLC25A19
Wikipedia pathwaysSLC25A19
Orthology - Evolution
OrthoDB60386
GeneTree (enSembl)ENSG00000125454
Phylogenetic Trees/Animal Genes : TreeFamSLC25A19
HOVERGENQ9HC21
HOGENOMQ9HC21
Homologs : HomoloGeneSLC25A19
Homology/Alignments : Family Browser (UCSC)SLC25A19
Gene fusions - Rearrangements
Fusion: Tumor Portal SLC25A19
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC25A19 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC25A19
dbVarSLC25A19
ClinVarSLC25A19
1000_GenomesSLC25A19 
Exome Variant ServerSLC25A19
ExAC (Exome Aggregation Consortium)ENSG00000125454
GNOMAD BrowserENSG00000125454
Genetic variants : HAPMAP60386
Genomic Variants (DGV)SLC25A19 [DGVbeta]
DECIPHERSLC25A19 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC25A19 
Mutations
ICGC Data PortalSLC25A19 
TCGA Data PortalSLC25A19 
Broad Tumor PortalSLC25A19
OASIS PortalSLC25A19 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC25A19  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC25A19
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 SLC25A19
DgiDB (Drug Gene Interaction Database)SLC25A19
DoCM (Curated mutations)SLC25A19 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC25A19 (select a term)
intoGenSLC25A19
Cancer3DSLC25A19(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606521    607196    613710   
Orphanet18854    14315   
MedgenSLC25A19
Genetic Testing Registry SLC25A19
NextProtQ9HC21 [Medical]
TSGene60386
GENETestsSLC25A19
Target ValidationSLC25A19
Huge Navigator SLC25A19 [HugePedia]
snp3D : Map Gene to Disease60386
BioCentury BCIQSLC25A19
ClinGenSLC25A19
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD60386
Chemical/Pharm GKB GenePA37879
Clinical trialSLC25A19
Miscellaneous
canSAR (ICR)SLC25A19 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC25A19
EVEXSLC25A19
GoPubMedSLC25A19
iHOPSLC25A19
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 13:11:10 CET 2017

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