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ASIC2 Gene(Protein Coding)

Acid Sensing Ion Channel Subunit 2

GCID:
GC17M033013
GIFtS:
45
Genes Participants
UDN Logo

Aliases for ASIC2 Gene

Aliases for ASIC2 Gene

  • Acid Sensing Ion Channel Subunit 2 2 3 5
  • Amiloride-Sensitive Cation Channel 1, Neuronal 2 3 4
  • Mammalian Degenerin Homolog 3 4
  • Brain Sodium Channel 1 3 4
  • ACCN1 3 4
  • BNaC1 3 4
  • ACCN 3 4
  • BNC1 3 4
  • MDEG 3 4
  • Neuronal Amiloride-Sensitive Cation Channel 1 3
  • Amiloride-Sensitive Cation Channel Neuronal 1 4
  • Acid Sensing (Proton Gated) Ion Channel 2 3
  • Acid-Sensing (Proton-Gated) Ion Channel 2 2
  • Amiloride-Sensitive Brain Sodium Channel 4
  • Acid-Sensing Ion Channel 2 3
  • Degenerin 2
  • ASIC2a 3
  • HBNaC1 3
  • BNAC1 4

External Ids for ASIC2 Gene

Previous HGNC Symbols for ASIC2 Gene

  • ACCN
  • ACCN1

Previous GeneCards Identifiers for ASIC2 Gene

  • GC17M031341

Summaries for ASIC2 Gene

Entrez Gene Summary for ASIC2 Gene

  • This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012]

GeneCards Summary for ASIC2 Gene

ASIC2 (Acid Sensing Ion Channel Subunit 2) is a Protein Coding gene. Diseases associated with ASIC2 include Frozen Shoulder and Hydrarthrosis. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Taste transduction. Gene Ontology (GO) annotations related to this gene include ion channel activity and voltage-gated sodium channel activity. An important paralog of this gene is ASIC1.

UniProtKB/Swiss-Prot for ASIC2 Gene

  • Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Also permeable for Li(+) and K(+). Generates a biphasic current with a fast inactivating and a slow sustained phase. Heteromeric channel assembly seems to modulate.

Tocris Summary for ASIC2 Gene

  • Acid-sensing ion channels (ASIC) are members of the ENaC/Deg (epithelial amiloride-sensitive Na+ channel and degenerin) family of ion channels and are widely expressed in neurons of the central and peripheral nervous system.

Gene Wiki entry for ASIC2 Gene

Additional gene information for ASIC2 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASIC2 Gene

Genomics for ASIC2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ASIC2 Gene

Promoters and enhancers for ASIC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH17J034156 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 650.4 +17.2 17189 3 SP1 POLR2A ZFP36 CTBP2 EZH2 ENSG00000265356 ASIC2 LOC105371735 GC17P034169
GH17J034186 Promoter 0.5 EPDnew 650.4 -11.8 -11818 0.1 ASIC2 GC17M034178 LINC01989
GH17J034172 Enhancer 0.3 ENCODE 650.7 +1.6 1582 1.2 MNT ASIC2 GC17P034169 LINC01989
GH17J034245 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10 -77.9 -77947 14 PKNOX1 SIN3A ZNF335 GLIS2 EGR1 FOS RUNX3 CREM RXRA ELF1 CCL2 CCL7 CCL11 CCL1 CCL8 ASIC2 GC17M034278
GH17J034613 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 12.7 -438.5 -438510 0.4 ZNF493 ZSCAN4 INSM2 KLF17 FEZF1 ZNF2 ZNF155 ZNF23 ZNF213 EGR1 ENSG00000278860 ZNF830 LINC02001 LIG3 AP2B1 RAD51D LOC105371739 LOC105371742 ENSG00000265775 ENSG00000263485
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASIC2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ASIC2 Gene

Genomic Locations for ASIC2 Gene
chr17:33,013,087-34,174,964
(GRCh38/hg38)
Size:
1,161,878 bases
Orientation:
Minus strand
chr17:31,340,105-32,501,983
(GRCh37/hg19)
Size:
1,161,879 bases
Orientation:
Minus strand

Genomic View for ASIC2 Gene

Genes around ASIC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASIC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASIC2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ASIC2 Gene

Proteins for ASIC2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ASIC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16515-ASIC2_HUMAN
    Recommended name:
    Acid-sensing ion channel 2
    Protein Accession:
    Q16515
    Secondary Accessions:
    • E9PBX2
    • Q13553
    • Q6DJU1
    • Q8N3E2

    Protein attributes for ASIC2 Gene

    Size:
    512 amino acids
    Molecular mass:
    57709 Da
    Quaternary structure:
    • Homotrimer or heterotrimer with other ASIC proteins (By similarity). Interacts with STOM; this regulates channel activity (By similarity). Interacts with PRKCABP and ASIC3. Heterotrimer of Asic1a-Asic2a interacts with the snake venom mambalgin-1 (PubMed:23034652). Heterotrimer of Asic1a-Asic2a interacts with the snake venom mambalgin-2 and mambalgin-3 (By similarity). Heterotrimer of Asic1a-Asic2b interacts with the snake venom mambalgin-1 and mambalgin-2 (By similarity).
    Miscellaneous:
    • Inhibited by anti-inflammatory drugs like salicylic acid (By similarity). Regulated by Zn(2+).

    Alternative splice isoforms for ASIC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASIC2 Gene

Protein Expression for ASIC2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ASIC2 Gene

  • Glycosylation at posLast=392392 and Asn365
  • Modification sites at PhosphoSitePlus

Other Protein References for ASIC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ASIC2 Gene

Domains & Families for ASIC2 Gene

Gene Families for ASIC2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for ASIC2 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ASIC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q16515

UniProtKB/Swiss-Prot:

ASIC2_HUMAN :
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC2 subfamily.
Family:
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC2 subfamily.
genes like me logo Genes that share domains with ASIC2: view

Function for ASIC2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ASIC2 Gene

UniProtKB/Swiss-Prot Function:
Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Also permeable for Li(+) and K(+). Generates a biphasic current with a fast inactivating and a slow sustained phase. Heteromeric channel assembly seems to modulate.

Phenotypes From GWAS Catalog for ASIC2 Gene

Gene Ontology (GO) - Molecular Function for ASIC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005261 cation channel activity IEA --
GO:0005272 sodium channel activity IEA --
GO:0005515 protein binding IPI 11802773
GO:0015280 ligand-gated sodium channel activity TAS 8626462
genes like me logo Genes that share ontologies with ASIC2: view
genes like me logo Genes that share phenotypes with ASIC2: view

Animal Models for ASIC2 Gene

MGI Knock Outs for ASIC2:

Animal Model Products

CRISPR Products

miRNA for ASIC2 Gene

miRTarBase miRNAs that target ASIC2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASIC2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ASIC2 Gene

Localization for ASIC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASIC2 Gene

Cell membrane; Multi-pass membrane protein. Note=Localized at the plasma membrane of neurons, in the soma and punctated peripheral processes. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASIC2 gene
Compartment Confidence
plasma membrane 5
mitochondrion 3
extracellular 2
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ASIC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043005 neuron projection IEA --
genes like me logo Genes that share ontologies with ASIC2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ASIC2 Gene

Pathways & Interactions for ASIC2 Gene

genes like me logo Genes that share pathways with ASIC2: view

Pathways by source for ASIC2 Gene

Gene Ontology (GO) - Biological Process for ASIC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003026 regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback IEA --
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0007268 chemical synaptic transmission TAS 8626462
genes like me logo Genes that share ontologies with ASIC2: view

No data available for SIGNOR curated interactions for ASIC2 Gene

Drugs & Compounds for ASIC2 Gene

Products:

  1. Drug

(9) Drugs for ASIC2 Gene - From: DrugBank, PharmGKB, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amiloride Approved Pharma Channel blocker, blocker, Target, inhibitor 55
Nafamostat Approved, Investigational Pharma Channel blocker 4
Lithium Approved Pharma 0
Cd<sup>2+</sup> Pharma Channel blocker, Antagonist, Pore Blocker 0
APETx2 Pharma Channel blocker 0

(5) Additional Compounds for ASIC2 Gene - From: IUPHAR, Novoseek, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
 7440-23-5
A317567
Channel blocker
H<sup>+</sup> (extracellular)
Activator, Inhibition, Allosteric regulator, Antagonist, Gating inhibitor, Potentiation, Channel blocker
genes like me logo Genes that share compounds with ASIC2: view

Transcripts for ASIC2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ASIC2 Gene

(2) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ASIC2 Gene

Acid-sensing (proton-gated) ion channel 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASIC2

Alternative Splicing Database (ASD) splice patterns (SP) for ASIC2 Gene

No ASD Table

Relevant External Links for ASIC2 Gene

GeneLoc Exon Structure for
ASIC2
ECgene alternative splicing isoforms for
ASIC2

Expression for ASIC2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASIC2 Gene

mRNA expression in normal human tissues for ASIC2 Gene
mRNA expression by GTEx for ASIC2 GenemRNA expression by BioGPS for ASIC2 Gene

mRNA differential expression in normal tissues according to GTEx for ASIC2 Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x6.3), Brain - Frontal Cortex (BA9) (x5.1), Brain - Hypothalamus (x4.8), Brain - Amygdala (x4.7), Brain - Cortex (x4.4), and Brain - Hippocampus (x4.1).

Protein differential expression in normal tissues from HIPED for ASIC2 Gene

This gene is overexpressed in Heart (48.8) and Retina (20.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ASIC2 Gene



Protein tissue co-expression partners for ASIC2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ASIC2 Gene:

ASIC2

SOURCE GeneReport for Unigene cluster for ASIC2 Gene:

Hs.368417

mRNA Expression by UniProt/SwissProt for ASIC2 Gene:

Q16515-ASIC2_HUMAN
Tissue specificity: Brain and spinal cord. Isoform 1 is also detected in testis, liver, colon and ovary.

Evidence on tissue expression from TISSUES for ASIC2 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with ASIC2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASIC2 Gene

Orthologs for ASIC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ASIC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ASIC2 34
  • 98 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia ASIC2 34 33
  • 95.62 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia ASIC2 34
  • 94 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Asic2 16 34 33
  • 92.78 (n)
rat
(Rattus norvegicus)
 Mammalia Asic2 33
  • 92.72 (n)
cow
(Bos Taurus)
 Mammalia ACCN1 34
  • 73 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 67 (a)
 ManyToMany
chicken
(Gallus gallus)
 Aves ASIC2 34
  • 94 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ASIC2 34
  • 92 (a)
 OneToOne
African clawed frog
(Xenopus laevis)
 Amphibia Xl.14786 33
zebrafish
(Danio rerio)
 Actinopterygii asic2 34
  • 70 (a)
 OneToOne
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 35 (a)
 ManyToMany
-- 34
  • 28 (a)
 ManyToMany
Cin.156 33
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.156 33
Species where no ortholog for ASIC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ASIC2 Gene

ENSEMBL:
Gene Tree for ASIC2 (if available)
TreeFam:
Gene Tree for ASIC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASIC2: view image

Paralogs for ASIC2 Gene

Paralogs for ASIC2 Gene

(4) SIMAP similar genes for ASIC2 Gene using alignment to 1 proteins:

  • ASIC2_HUMAN
genes like me logo Genes that share paralogs with ASIC2: view

Variants for ASIC2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ASIC2 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs193921140 uncertain-significance, Malignant tumor of prostate 33,028,251(-) G/T coding_sequence_variant, missense_variant
rs1000003227 -- 33,674,060(-) A/C genic_upstream_transcript_variant, intron_variant
rs1000011179 -- 33,987,955(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000011904 -- 33,714,642(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000012356 -- 34,033,613(-) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ASIC2 Gene

Variant ID Type Subtype PubMed ID
dgv1732e59 CNV duplication 20981092
dgv178e215 CNV deletion 23714750
dgv3139n100 CNV loss 25217958
dgv3140n100 CNV loss 25217958
dgv3141n100 CNV gain 25217958
dgv544e199 CNV deletion 23128226
dgv5527n54 CNV loss 21841781
dgv5528n54 CNV loss 21841781
esv1009599 CNV deletion 20482838
esv1010808 CNV deletion 20482838
esv1190540 CNV insertion 17803354
esv1361190 CNV deletion 17803354
esv1388614 CNV insertion 17803354
esv1962059 CNV deletion 18987734
esv2028766 CNV deletion 18987734
esv22900 CNV loss 19812545
esv23435 CNV gain 19812545
esv2390875 CNV deletion 18987734
esv2509611 CNV insertion 19546169
esv2566342 CNV deletion 19546169
esv25758 CNV loss 19812545
esv2594146 CNV deletion 19546169
esv2608939 CNV deletion 19546169
esv26594 CNV loss 19812545
esv2663754 CNV deletion 23128226
esv2666858 CNV deletion 23128226
esv2669785 CNV deletion 23128226
esv2715836 CNV deletion 23290073
esv2715837 CNV deletion 23290073
esv2715838 CNV deletion 23290073
esv2715839 CNV deletion 23290073
esv2715841 CNV deletion 23290073
esv2715842 CNV deletion 23290073
esv2715843 CNV deletion 23290073
esv2715844 CNV deletion 23290073
esv2715845 CNV deletion 23290073
esv2715846 CNV deletion 23290073
esv2715847 CNV deletion 23290073
esv2715848 CNV deletion 23290073
esv2715849 CNV deletion 23290073
esv2715850 CNV deletion 23290073
esv2715852 CNV deletion 23290073
esv2715853 CNV deletion 23290073
esv2715854 CNV deletion 23290073
esv2715855 CNV deletion 23290073
esv2715856 CNV deletion 23290073
esv2715857 CNV deletion 23290073
esv28058 CNV gain 19812545
esv28349 CNV loss 19812545
esv3303975 CNV mobile element insertion 20981092
esv3306385 CNV mobile element insertion 20981092
esv3324808 CNV insertion 20981092
esv3342584 CNV insertion 20981092
esv3384721 CNV insertion 20981092
esv3426437 CNV insertion 20981092
esv3554329 CNV deletion 23714750
esv3554336 CNV deletion 23714750
esv3572553 CNV gain 25503493
esv3582607 CNV loss 25503493
esv3582608 CNV loss 25503493
esv3640398 CNV loss 21293372
esv3640399 CNV loss 21293372
esv3640401 CNV loss 21293372
esv3640402 CNV loss 21293372
esv3640403 CNV loss 21293372
esv3640404 CNV loss 21293372
esv3640405 CNV loss 21293372
esv3640406 CNV gain 21293372
esv3640409 CNV loss 21293372
esv3640410 CNV loss 21293372
esv3640411 CNV loss 21293372
esv3640412 CNV loss 21293372
esv3640415 CNV loss 21293372
esv3640416 CNV loss 21293372
esv3640417 CNV loss 21293372
esv3640418 CNV loss 21293372
esv3892995 CNV loss 25118596
esv3892996 CNV loss 25118596
esv6028 CNV gain 19470904
nsv1057110 CNV gain 25217958
nsv1058478 CNV gain 25217958
nsv1060177 CNV loss 25217958
nsv1062414 CNV loss 25217958
nsv1072730 CNV deletion 25765185
nsv1076447 CNV duplication 25765185
nsv1113870 CNV deletion 24896259
nsv1116213 CNV deletion 24896259
nsv1116214 CNV deletion 24896259
nsv112442 CNV deletion 16902084
nsv1125221 CNV deletion 24896259
nsv1127564 CNV deletion 24896259
nsv1129592 CNV tandem duplication 24896259
nsv1130703 CNV deletion 24896259
nsv1148208 CNV duplication 26484159
nsv1149135 CNV deletion 26484159
nsv2026 CNV deletion 18451855
nsv2027 CNV insertion 18451855
nsv2028 CNV insertion 18451855
nsv457722 CNV loss 19166990
nsv471803 CNV loss 16327809
nsv472774 CNV novel sequence insertion 20440878
nsv473579 CNV novel sequence insertion 20440878
nsv474828 CNV novel sequence insertion 20440878
nsv475151 CNV novel sequence insertion 20440878
nsv478338 CNV novel sequence insertion 20440878
nsv479353 CNV novel sequence insertion 20440878
nsv510705 CNV deletion 20534489
nsv510706 CNV deletion 20534489
nsv517423 CNV gain+loss 19592680
nsv519297 CNV gain 19592680
nsv521841 CNV loss 19592680
nsv525886 CNV loss 19592680
nsv526348 CNV loss 19592680
nsv527765 CNV loss 19592680
nsv574710 CNV loss 21841781
nsv574711 CNV loss 21841781
nsv574714 CNV gain 21841781
nsv574718 CNV loss 21841781
nsv827950 CNV loss 20364138
nsv827951 CNV loss 20364138
nsv827952 CNV gain 20364138
nsv833417 CNV gain 17160897
nsv833418 CNV gain 17160897
nsv833419 CNV gain 17160897
nsv833420 CNV gain 17160897
nsv833421 CNV gain 17160897
nsv833422 CNV gain 17160897
nsv953879 CNV deletion 24416366
nsv9539 CNV loss 18304495
nsv960092 CNV duplication 23825009

Variation tolerance for ASIC2 Gene

Residual Variation Intolerance Score: 5.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.55; 82.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASIC2 Gene

Human Gene Mutation Database (HGMD)
ASIC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASIC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASIC2 Gene

Disorders for ASIC2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ASIC2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
frozen shoulder
  • adhesions-capsulitis,shoulder
hydrarthrosis
pseudohypoaldosteronism, type i, autosomal recessive
  • pha1b
chromosome 17q11.2 deletion syndrome, 1.4-mb
  • neurofibromatosis 1 microdeletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ASIC2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ASIC2

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ASIC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASIC2 Gene

Publications for ASIC2 Gene

  1. Surface expression of ASIC2 inhibits the amiloride-sensitive current and migration of glioma cells. (PMID: 16704974) Vila-Carriles WH … Benos DJ (The Journal of biological chemistry 2006) 3 22 25 58
  2. Mammalian ASIC2a and ASIC3 subunits co-assemble into heteromeric proton-gated channels sensitive to Gd3+. (PMID: 10842183) Babinski K … Séguéla P (The Journal of biological chemistry 2000) 3 4 22 58
  3. BNaC1 and BNaC2 constitute a new family of human neuronal sodium channels related to degenerins and epithelial sodium channels. (PMID: 9037075) García-Añoveros J … Corey DP (Proceedings of the National Academy of Sciences of the United States of America 1997) 3 4 22 58
  4. Cloning and expression of a novel human brain Na+ channel. (PMID: 8626462) Price MP … Welsh MJ (The Journal of biological chemistry 1996) 3 4 22 58
  5. The mammalian degenerin MDEG, an amiloride-sensitive cation channel activated by mutations causing neurodegeneration in Caenorhabditis elegans. (PMID: 8631835) Waldmann R … Lazdunski M (The Journal of biological chemistry 1996) 3 4 22 58

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