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SLC5A7 (solute carrier family 5 member 7)

Identity

Alias_namessolute carrier family 5 (choline transporter), member 7
solute carrier family 5 (sodium/choline cotransporter), member 7
Alias_symbol (synonym)hCHT
CHT1
Other aliasCHT
CMS20
HMN7A
HGNC (Hugo) SLC5A7
LocusID (NCBI) 60482
Atlas_Id 73465
Location 2q12.3  [Link to chromosome band 2q12]
Location_base_pair Starts at 107986514 and ends at 108013987 bp from pter ( according to hg38-Dec_2013)

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)SLC5A7   14025
Cards
Entrez_Gene (NCBI)SLC5A7  60482  solute carrier family 5 member 7
AliasesCHT; CHT1; CMS20; HMN7A
GeneCards (Weizmann)SLC5A7
Ensembl hg19 (Hinxton)ENSG00000115665 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000115665 [Gene_View]  chr2:107986514-108013987 [Contig_View]  SLC5A7 [Vega]
ICGC DataPortalENSG00000115665
TCGA cBioPortalSLC5A7
AceView (NCBI)SLC5A7
Genatlas (Paris)SLC5A7
WikiGenes60482
SOURCE (Princeton)SLC5A7
Genetics Home Reference (NIH)SLC5A7
Genomic and cartography
GoldenPath hg38 (UCSC)SLC5A7  -     chr2:107986514-108013987 +  2q12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC5A7  -     2q12.3   [Description]    (hg19-Feb_2009)
EnsemblSLC5A7 - 2q12.3 [CytoView hg19]  SLC5A7 - 2q12.3 [CytoView hg38]
Mapping of homologs : NCBISLC5A7 [Mapview hg19]  SLC5A7 [Mapview hg38]
OMIM158580   608761   617143   
Gene and transcription
Genbank (Entrez)AB043997 AB084377 AF276871 AJ401466 AK300801
RefSeq transcript (Entrez)NM_001305005 NM_001305006 NM_001305007 NM_021815
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC5A7
Cluster EST : UnigeneHs.287758 [ NCBI ]
CGAP (NCI)Hs.287758
Alternative Splicing GalleryENSG00000115665
Gene ExpressionSLC5A7 [ NCBI-GEO ]   SLC5A7 [ EBI - ARRAY_EXPRESS ]   SLC5A7 [ SEEK ]   SLC5A7 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC5A7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)60482
GTEX Portal (Tissue expression)SLC5A7
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9GZV3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9GZV3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9GZV3
Splice isoforms : SwissVarQ9GZV3
PhosPhoSitePlusQ9GZV3
Domaine pattern : Prosite (Expaxy)NA_SOLUT_SYMP_3 (PS50283)   
Domains : Interpro (EBI)Na/solute_symporter   
Domain families : Pfam (Sanger)SSF (PF00474)   
Domain families : Pfam (NCBI)pfam00474   
Conserved Domain (NCBI)SLC5A7
DMDM Disease mutations60482
Blocks (Seattle)SLC5A7
SuperfamilyQ9GZV3
Human Protein AtlasENSG00000115665
Peptide AtlasQ9GZV3
HPRD12294
IPIIPI00029180   IPI01009671   
Protein Interaction databases
DIP (DOE-UCLA)Q9GZV3
IntAct (EBI)Q9GZV3
FunCoupENSG00000115665
BioGRIDSLC5A7
STRING (EMBL)SLC5A7
ZODIACSLC5A7
Ontologies - Pathways
QuickGOQ9GZV3
Ontology : AmiGOcholine:sodium symporter activity  plasma membrane  plasma membrane  integral component of plasma membrane  sodium ion transport  neurotransmitter secretion  synaptic transmission, cholinergic  neuromuscular synaptic transmission  acetylcholine biosynthetic process  choline transmembrane transporter activity  choline transmembrane transporter activity  choline transport  integral component of membrane  cell junction  axon  dendrite  neuromuscular junction  choline binding  perikaryon  synapse  transmembrane transport  presynapse  
Ontology : EGO-EBIcholine:sodium symporter activity  plasma membrane  plasma membrane  integral component of plasma membrane  sodium ion transport  neurotransmitter secretion  synaptic transmission, cholinergic  neuromuscular synaptic transmission  acetylcholine biosynthetic process  choline transmembrane transporter activity  choline transmembrane transporter activity  choline transport  integral component of membrane  cell junction  axon  dendrite  neuromuscular junction  choline binding  perikaryon  synapse  transmembrane transport  presynapse  
Pathways : KEGGCholinergic synapse   
NDEx NetworkSLC5A7
Atlas of Cancer Signalling NetworkSLC5A7
Wikipedia pathwaysSLC5A7
Orthology - Evolution
OrthoDB60482
GeneTree (enSembl)ENSG00000115665
Phylogenetic Trees/Animal Genes : TreeFamSLC5A7
HOVERGENQ9GZV3
HOGENOMQ9GZV3
Homologs : HomoloGeneSLC5A7
Homology/Alignments : Family Browser (UCSC)SLC5A7
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC5A7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC5A7
dbVarSLC5A7
ClinVarSLC5A7
1000_GenomesSLC5A7 
Exome Variant ServerSLC5A7
ExAC (Exome Aggregation Consortium)SLC5A7 (select the gene name)
Genetic variants : HAPMAP60482
Genomic Variants (DGV)SLC5A7 [DGVbeta]
DECIPHERSLC5A7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC5A7 
Mutations
ICGC Data PortalSLC5A7 
TCGA Data PortalSLC5A7 
Broad Tumor PortalSLC5A7
OASIS PortalSLC5A7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC5A7  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC5A7
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 SLC5A7
DgiDB (Drug Gene Interaction Database)SLC5A7
DoCM (Curated mutations)SLC5A7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC5A7 (select a term)
intoGenSLC5A7
Cancer3DSLC5A7(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM158580    608761    617143   
Orphanet16924   
MedgenSLC5A7
Genetic Testing Registry SLC5A7
NextProtQ9GZV3 [Medical]
TSGene60482
GENETestsSLC5A7
Target ValidationSLC5A7
Huge Navigator SLC5A7 [HugePedia]
snp3D : Map Gene to Disease60482
BioCentury BCIQSLC5A7
ClinGenSLC5A7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD60482
Chemical/Pharm GKB GenePA37838
Clinical trialSLC5A7
Miscellaneous
canSAR (ICR)SLC5A7 (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC5A7
EVEXSLC5A7
GoPubMedSLC5A7
iHOPSLC5A7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:38:16 CEST 2017

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