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SCNN1A (sodium channel, nonvoltage-gated 1 alpha)

Identity

Other namesBESC2
ENaCa
ENaCalpha
FLJ21883
SCNEA
SCNN1
HGNC (Hugo) SCNN1A
Location 12p13.31
Location_base_pair Starts at 6326274 and ends at 6354976 bp from pter ( according to hg18-March_2006)
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)SCNN1A   10599
Entrez_Gene (NCBI)SCNN1A  6337  sodium channel, nonvoltage-gated 1 alpha
Cards
GeneCards (Weizmann)SCNN1A
Ensembl (Hinxton)ENSG00000111319 [Gene_View]  SCNN1A [Vega]
AceView (NCBI)SCNN1A
Genatlas (Paris)SCNN1A
euGene (Indiana)6337
SOURCE (Stanford)NM_001038 NM_001159575 NM_001159576
Gene Expression (Array Express) ENSG00000111319
Genomic and cartography
GoldenPath (UCSC)SCNN1A  -  12p13.31   chr12:6326274-6354976 -  12p13.31   [Description]    (hg18-March_2006)
EnsemblSCNN1A - 12p13.31 [CytoView]
Mapping of homologs : NCBISCNN1A [Mapview]
OMIM264350   600228   613021   
Gene and transcription
Gene : Genbank (Entrez)AK025536 AK172792 AK304379 AY365119 BC006526
Reference sequence (RefSeq transcript) :SRSNM_001038 NM_001159575 NM_001159576
Reference transcript : EntrezNM_001038 NM_001159575 NM_001159576
RefSeq genomic : SRSAC_000055 AC_000144 NC_000012 NG_011945 NT_009759 NW_001838050 NW_925295
RefSeq genomic : EntrezAC_000055 AC_000144 NC_000012 NG_011945 NT_009759 NW_001838050 NW_925295
Consensus coding sequences : CCDS NCBISCNN1A
Cluster EST : UnigeneHs.591047 [ SRS ] Hs.591047 [ NCBI ]
Alternative Splicing : Fast-db (Paris)955
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtP37088 (SRS) P37088 (Expasy) P37088 (Uniprot)
With graphics : InterProP37088
Splice isoforms : VarSplice FASTAP37088(VarSplice FASTA)
Domaine pattern : Prosite (SRS)ASC (PS01206)   
Domain pattern : Prosite (Expaxy)ASC (PS01206)   
Domains : Interpro (SRS)EnaC    Na+channel_ASC    Na+channel_ASC_CS   
Domains : Interpro (EBI)EnaC    Na+channel_ASC    Na+channel_ASC_CS   
Related proteins : CluSTrP37088
Domain families : Pfam SRSASC (PF00858)   
Domain families : Pfam SangerASC (PF00858)   
Domain families : Pfam NCBIpfam00858   
Blocks (Seattle)P37088
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD02575
Protein Interaction databases
DIP (DOE-UCLA)P37088
IntAct (EBI)P37088
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBISCNN1A
SNP : GeneSNP UtahSCNN1A
SNP : HGBaseSCNN1A
Genetic variants : HAPMAPSCNN1A
Somatic Mutations in Cancer : COSMICSCNN1A 
Mutations and Diseases : HGMDSCNN1A
Hereditary diseases : OMIM264350    600228    613021   
Hereditary diseases : GENETests264350    600228    613021   
Diseases : Genetic AssociationSCNN1A
General knowledge
Homologs : HomoloGeneSCNN1A
Homology/Alignments : Family Browser UCSCSCNN1A
Phylogenetic Trees/Animal Genes : TreeFamSCNN1A
Chemical/Protein Interactions : CTD6337
Keywords Ontology : AmiGOactin binding  ion channel activity  protein binding  membrane fraction  plasma membrane  ion transport  sodium ion transport  excretion  external side of plasma membrane  amiloride-sensitive sodium channel activity  integral to membrane  apical plasma membrane  cortical actin cytoskeleton  sodium ion binding  sodium channel complex  WW domain binding  response to stimulus  sensory perception of taste  
Keywords Ontology : EGO-EBIactin binding  ion channel activity  protein binding  membrane fraction  plasma membrane  ion transport  sodium ion transport  excretion  external side of plasma membrane  amiloride-sensitive sodium channel activity  integral to membrane  apical plasma membrane  cortical actin cytoskeleton  sodium ion binding  sodium channel complex  WW domain binding  response to stimulus  sensory perception of taste  
Pathways : BIOCARTA
Pathways : KEGGTaste transduction
Other databases
Probes
Probes : ImagenesSCNN1A Related clones (RZPD - Berlin)
Literature
PubMed89 Pubmed reference(s) in Entrez
PubGeneSCNN1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated03-2009Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Feb 27 10:38:55 CET 2010
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