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SLC44A2 (solute carrier family 44 member 2)

Identity

Alias_namessolute carrier family 44 (choline transporter)
Alias_symbol (synonym)CTL2
Other aliasPP1292
HGNC (Hugo) SLC44A2
LocusID (NCBI) 57153
Atlas_Id 54639
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 10713121 and ends at 10755235 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DNM2 (19p13.2) / SLC44A2 (19p13.2)KCNIP1 (5q35.1) / SLC44A2 (19p13.2)NOP56 (20p13) / SLC44A2 (19p13.2)
SLC44A2 (19p13.2) / DST (6p12.1)SLC44A2 (19p13.2) / PBX4 (19p13.11)SLC44A2 (19p13.2) / VCL (10q22.2)
DNM2 19p13.2 / SLC44A2 19p13.2

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)SLC44A2   17292
Cards
Entrez_Gene (NCBI)SLC44A2  57153  solute carrier family 44 member 2
AliasesCTL2; PP1292
GeneCards (Weizmann)SLC44A2
Ensembl hg19 (Hinxton)ENSG00000129353 [Gene_View]  chr19:10713121-10755235 [Contig_View]  SLC44A2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000129353 [Gene_View]  chr19:10713121-10755235 [Contig_View]  SLC44A2 [Vega]
ICGC DataPortalENSG00000129353
TCGA cBioPortalSLC44A2
AceView (NCBI)SLC44A2
Genatlas (Paris)SLC44A2
WikiGenes57153
SOURCE (Princeton)SLC44A2
Genetics Home Reference (NIH)SLC44A2
Genomic and cartography
GoldenPath hg19 (UCSC)SLC44A2  -     chr19:10713121-10755235 +  19p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SLC44A2  -     19p13.2   [Description]    (hg38-Dec_2013)
EnsemblSLC44A2 - 19p13.2 [CytoView hg19]  SLC44A2 - 19p13.2 [CytoView hg38]
Mapping of homologs : NCBISLC44A2 [Mapview hg19]  SLC44A2 [Mapview hg38]
OMIM606106   
Gene and transcription
Genbank (Entrez)AF070636 AF258549 AK027519 AK075512 AK126550
RefSeq transcript (Entrez)NM_001145056 NM_020428
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011295 NW_004929414
Consensus coding sequences : CCDS (NCBI)SLC44A2
Cluster EST : UnigeneHs.534560 [ NCBI ]
CGAP (NCI)Hs.534560
Alternative Splicing GalleryENSG00000129353
Gene ExpressionSLC44A2 [ NCBI-GEO ]   SLC44A2 [ EBI - ARRAY_EXPRESS ]   SLC44A2 [ SEEK ]   SLC44A2 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC44A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57153
GTEX Portal (Tissue expression)SLC44A2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IWA5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IWA5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IWA5
Splice isoforms : SwissVarQ8IWA5
PhosPhoSitePlusQ8IWA5
Domains : Interpro (EBI)Choline_transptr-like   
Domain families : Pfam (Sanger)Choline_transpo (PF04515)   
Domain families : Pfam (NCBI)pfam04515   
Conserved Domain (NCBI)SLC44A2
DMDM Disease mutations57153
Blocks (Seattle)SLC44A2
SuperfamilyQ8IWA5
Human Protein AtlasENSG00000129353
Peptide AtlasQ8IWA5
HPRD16198
IPIIPI00549521   IPI00293074   IPI00645589   IPI00903245   IPI01017978   IPI00383185   
Protein Interaction databases
DIP (DOE-UCLA)Q8IWA5
IntAct (EBI)Q8IWA5
FunCoupENSG00000129353
BioGRIDSLC44A2
STRING (EMBL)SLC44A2
ZODIACSLC44A2
Ontologies - Pathways
QuickGOQ8IWA5
Ontology : AmiGOsignal transducer activity  lysosomal membrane  plasma membrane  phosphatidylcholine biosynthetic process  signal transduction  choline transmembrane transporter activity  choline transport  integral component of membrane  positive regulation of I-kappaB kinase/NF-kappaB signaling  transmembrane transport  extracellular exosome  
Ontology : EGO-EBIsignal transducer activity  lysosomal membrane  plasma membrane  phosphatidylcholine biosynthetic process  signal transduction  choline transmembrane transporter activity  choline transport  integral component of membrane  positive regulation of I-kappaB kinase/NF-kappaB signaling  transmembrane transport  extracellular exosome  
NDEx NetworkSLC44A2
Atlas of Cancer Signalling NetworkSLC44A2
Wikipedia pathwaysSLC44A2
Orthology - Evolution
OrthoDB57153
GeneTree (enSembl)ENSG00000129353
Phylogenetic Trees/Animal Genes : TreeFamSLC44A2
HOVERGENQ8IWA5
HOGENOMQ8IWA5
Homologs : HomoloGeneSLC44A2
Homology/Alignments : Family Browser (UCSC)SLC44A2
Gene fusions - Rearrangements
Fusion : MitelmanDNM2/SLC44A2 [19p13.2/19p13.2]  [t(19;19)(p13;p13)]  
Fusion : MitelmanSLC44A2/PBX4 [19p13.2/19p13.11]  [t(19;19)(p13;p13)]  
Fusion: TCGADNM2 19p13.2 SLC44A2 19p13.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC44A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC44A2
dbVarSLC44A2
ClinVarSLC44A2
1000_GenomesSLC44A2 
Exome Variant ServerSLC44A2
ExAC (Exome Aggregation Consortium)SLC44A2 (select the gene name)
Genetic variants : HAPMAP57153
Genomic Variants (DGV)SLC44A2 [DGVbeta]
DECIPHER (Syndromes)19:10713121-10755235  ENSG00000129353
CONAN: Copy Number AnalysisSLC44A2 
Mutations
ICGC Data PortalSLC44A2 
TCGA Data PortalSLC44A2 
Broad Tumor PortalSLC44A2
OASIS PortalSLC44A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC44A2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC44A2
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 SLC44A2
DgiDB (Drug Gene Interaction Database)SLC44A2
DoCM (Curated mutations)SLC44A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC44A2 (select a term)
intoGenSLC44A2
Cancer3DSLC44A2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606106   
Orphanet
MedgenSLC44A2
Genetic Testing Registry SLC44A2
NextProtQ8IWA5 [Medical]
TSGene57153
GENETestsSLC44A2
Huge Navigator SLC44A2 [HugePedia]
snp3D : Map Gene to Disease57153
BioCentury BCIQSLC44A2
ClinGenSLC44A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57153
Chemical/Pharm GKB GenePA142670899
Clinical trialSLC44A2
Miscellaneous
canSAR (ICR)SLC44A2 (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC44A2
EVEXSLC44A2
GoPubMedSLC44A2
iHOPSLC44A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:19:50 CEST 2017

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