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ASIC2 (acid sensing ion channel subunit 2)

Identity

Alias (NCBI)ACCN
ACCN1
ASIC2a
BNC1
BNaC1
MDEG
hBNaC1
HGNC (Hugo) ASIC2
HGNC Alias symbASIC2a
BNC1
BNaC1
hBNaC1
MDEG
HGNC Alias namedegenerin
HGNC Previous nameACCN
 ACCN1
HGNC Previous nameamiloride-sensitive cation channel 1, neuronal
 acid-sensing (proton-gated) ion channel 2
LocusID (NCBI) 40
Atlas_Id 551
Location 17q11.2  [Link to chromosome band 17q11]
Location_base_pair Starts at 33013088 and ends at 33292988 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)
ASIC2 (17q11.2) / PFDN2 (1q23.3)FIP1L1 (4q12) / ASIC2 (17q11.2)MYO1D (17q11.2) / ASIC2 (17q11.2)
NBPF1 (1p36.13) / ASIC2 (17q11.2)NF1 (17q11.2) / ASIC2 (17q11.2)TMIGD1 (17q11.2) / ASIC2 (17q11.2)
NF1 17q11.2 / ASIC2 17q11.2

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)ASIC2   99
Cards
Entrez_Gene (NCBI)ASIC2    acid sensing ion channel subunit 2
AliasesACCN; ACCN1; ASIC2a; BNC1; 
BNaC1; MDEG; hBNaC1
GeneCards (Weizmann)ASIC2
Ensembl hg19 (Hinxton)ENSG00000108684 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108684 [Gene_View]  ENSG00000108684 [Sequence]  chr17:33013088-33292988 [Contig_View]  ASIC2 [Vega]
ICGC DataPortalENSG00000108684
TCGA cBioPortalASIC2
AceView (NCBI)ASIC2
Genatlas (Paris)ASIC2
SOURCE (Princeton)ASIC2
Genetics Home Reference (NIH)ASIC2
Genomic and cartography
GoldenPath hg38 (UCSC)ASIC2  -     chr17:33013088-33292988 -  17q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ASIC2  -     17q11.2   [Description]    (hg19-Feb_2009)
GoldenPathASIC2 - 17q11.2 [CytoView hg19]  ASIC2 - 17q11.2 [CytoView hg38]
ImmunoBaseENSG00000108684
Genome Data Viewer NCBIASIC2 [Mapview hg19]  
OMIM601784   
Gene and transcription
Genbank (Entrez)AK127748 AK313043 AL834182 BC075042 BC075043
RefSeq transcript (Entrez)NM_001094 NM_183377
Consensus coding sequences : CCDS (NCBI)ASIC2
Gene ExpressionASIC2 [ NCBI-GEO ]   ASIC2 [ EBI - ARRAY_EXPRESS ]   ASIC2 [ SEEK ]   ASIC2 [ MEM ]
Gene Expression Viewer (FireBrowse)ASIC2 [ Firebrowse - Broad ]
GenevisibleExpression of ASIC2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)40
GTEX Portal (Tissue expression)ASIC2
Human Protein AtlasENSG00000108684-ASIC2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16515   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16515  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16515
PhosPhoSitePlusQ16515
Domaine pattern : Prosite (Expaxy)ASC (PS01206)   
Domains : Interpro (EBI)ENaC    ENaC_chordates    ENaC_CS   
Domain families : Pfam (Sanger)ASC (PF00858)   
Domain families : Pfam (NCBI)pfam00858   
Conserved Domain (NCBI)ASIC2
PDB (RSDB)6L6P   
PDB Europe6L6P   
PDB (PDBSum)6L6P   
PDB (IMB)6L6P   
Structural Biology KnowledgeBase6L6P   
SCOP (Structural Classification of Proteins)6L6P   
CATH (Classification of proteins structures)6L6P   
SuperfamilyQ16515
AlphaFold pdb e-kbQ16515   
Human Protein Atlas [tissue]ENSG00000108684-ASIC2 [tissue]
HPRD03471
Protein Interaction databases
DIP (DOE-UCLA)Q16515
IntAct (EBI)Q16515
BioGRIDASIC2
STRING (EMBL)ASIC2
ZODIACASIC2
Ontologies - Pathways
QuickGOQ16515
Ontology : AmiGOregulation of systemic arterial blood pressure by aortic arch baroreceptor feedback  protein binding  plasma membrane  integral component of plasma membrane  chemical synaptic transmission  central nervous system development  peripheral nervous system development  phototransduction  sensory perception of sound  response to acidic pH  ligand-gated sodium channel activity  regulation of vasoconstriction  ion gated channel activity  ion transmembrane transport  regulation of ion transmembrane transport  protein localization to synapse  sodium ion transmembrane transport  regulation of membrane potential  neuronal cell body  negative regulation of apoptotic process  dendritic spine  sensory perception of sour taste  detection of mechanical stimulus involved in sensory perception  positive regulation of synapse assembly  inorganic cation transmembrane transport  
Ontology : EGO-EBIregulation of systemic arterial blood pressure by aortic arch baroreceptor feedback  protein binding  plasma membrane  integral component of plasma membrane  chemical synaptic transmission  central nervous system development  peripheral nervous system development  phototransduction  sensory perception of sound  response to acidic pH  ligand-gated sodium channel activity  regulation of vasoconstriction  ion gated channel activity  ion transmembrane transport  regulation of ion transmembrane transport  protein localization to synapse  sodium ion transmembrane transport  regulation of membrane potential  neuronal cell body  negative regulation of apoptotic process  dendritic spine  sensory perception of sour taste  detection of mechanical stimulus involved in sensory perception  positive regulation of synapse assembly  inorganic cation transmembrane transport  
Pathways : KEGGTaste transduction   
NDEx NetworkASIC2
Atlas of Cancer Signalling NetworkASIC2
Wikipedia pathwaysASIC2
Orthology - Evolution
OrthoDB40
GeneTree (enSembl)ENSG00000108684
Phylogenetic Trees/Animal Genes : TreeFamASIC2
Homologs : HomoloGeneASIC2
Homology/Alignments : Family Browser (UCSC)ASIC2
Gene fusions - Rearrangements
Fusion : MitelmanASIC2/PFDN2 [17q11.2/1q23.3]  
Fusion : MitelmanMYO1D/ASIC2 [17q11.2/17q11.2]  
Fusion : QuiverASIC2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerASIC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ASIC2
dbVarASIC2
ClinVarASIC2
MonarchASIC2
1000_GenomesASIC2 
Exome Variant ServerASIC2
GNOMAD BrowserENSG00000108684
Varsome BrowserASIC2
ACMGASIC2 variants
VarityQ16515
Genomic Variants (DGV)ASIC2 [DGVbeta]
DECIPHERASIC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisASIC2 
Mutations
ICGC Data PortalASIC2 
TCGA Data PortalASIC2 
Broad Tumor PortalASIC2
OASIS PortalASIC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICASIC2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DASIC2
Mutations and Diseases : HGMDASIC2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaASIC2
DgiDB (Drug Gene Interaction Database)ASIC2
DoCM (Curated mutations)ASIC2
CIViC (Clinical Interpretations of Variants in Cancer)ASIC2
Cancer3DASIC2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601784   
Orphanet
DisGeNETASIC2
MedgenASIC2
Genetic Testing Registry ASIC2
NextProtQ16515 [Medical]
GENETestsASIC2
Target ValidationASIC2
Huge Navigator ASIC2 [HugePedia]
ClinGenASIC2
Clinical trials, drugs, therapy
MyCancerGenomeASIC2
Protein Interactions : CTDASIC2
Pharm GKB GenePA24433
PharosQ16515
Clinical trialASIC2
Miscellaneous
canSAR (ICR)ASIC2
HarmonizomeASIC2
DataMed IndexASIC2
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXASIC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:00:19 CEST 2021

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