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ASIC5 Gene(Protein Coding)

Acid Sensing Ion Channel Subunit Family Member 5

GCID:
GC04M155829
GIFtS:
38
Genes Participants
UDN Logo

Aliases for ASIC5 Gene

Aliases for ASIC5 Gene

  • Acid Sensing Ion Channel Subunit Family Member 5 2 3 5
  • Amiloride-Sensitive Cation Channel 5, Intestinal 2 3
  • Human Intestine Na(+) Channel 3 4
  • ACCN5 3 4
  • HINAC 3 4
  • Acid-Sensing (Proton-Gated) Ion Channel Family Member 5 2
  • Acid Sensing (Proton Gated) Ion Channel Family Member 5 3
  • Acid Sensing Ion Channel Family Member 5 3
  • Amiloride-Sensitive Cation Channel 5 4
  • Amiloride-Sensitive Sodium Channel 3
  • Acid-Sensing Ion Channel 5 3
  • INAC 3

External Ids for ASIC5 Gene

Previous HGNC Symbols for ASIC5 Gene

  • ACCN5

Previous GeneCards Identifiers for ASIC5 Gene

  • GC04M156751

Summaries for ASIC5 Gene

Entrez Gene Summary for ASIC5 Gene

  • This gene belongs to the amiloride-sensitive Na+ channel and degenerin (NaC/DEG) family, members of which have been identified in many animal species ranging from the nematode to human. The amiloride-sensitive Na(+) channel encoded by this gene is primarily expressed in the small intestine, however, its exact function is not known. [provided by RefSeq, Jul 2008]

GeneCards Summary for ASIC5 Gene

ASIC5 (Acid Sensing Ion Channel Subunit Family Member 5) is a Protein Coding gene. Diseases associated with ASIC5 include Liddle Syndrome. Among its related pathways are Development Endothelin-1/EDNRA signaling and Ion channel transport. Gene Ontology (GO) annotations related to this gene include sodium channel activity and proton channel activity. An important paralog of this gene is ASIC1.

UniProtKB/Swiss-Prot for ASIC5 Gene

  • Cation channel that gives rise to very low constitutive currents in the absence of activation. The activated channel exhibits selectivity for sodium, and is inhibited by amiloride.

Additional gene information for ASIC5 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASIC5 Gene

Genomics for ASIC5 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ASIC5 Gene

Promoters and enhancers for ASIC5 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
GH04I155866 Promoter 0.5 EPDnew 550.8 0.0 -24 0.1 ASIC5 TDO2 CTSO
GH04I155854 Enhancer 0.8 Ensembl ENCODE 0.4 +11.5 11463 0.8 RXRA TAF1 RAD21 YY1 POLR2A IKZF1 ZNF143 FOS NFE2 TDO2 LOC105377507 ASIC5
GH04I155888 Enhancer 1 Ensembl ENCODE 0.3 -23.3 -23265 1.4 SMAD1 TAF1 BACH1 MAX BMI1 BATF RAD21 YY1 HNF4G ATF7 TDO2 ASIC5 CTSO
GH04I155903 Promoter 0.9 EPDnew 0.3 -37.4 -37404 0.1 FOXA2 RXRA TAF1 REST RAD21 FOXA1 YY1 JUND ATF3 ZBTB33 TDO2 ASIC5 CTSO
GH04I155906 Enhancer 0.8 ENCODE 0.3 -40.9 -40854 1.2 PKNOX1 ZBTB21 INSM2 MAX MZF1 FEZF1 HIC1 ZNF664 ZNF213 POLR2A ASIC5 CTSO TDO2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ASIC5 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ASIC5 Gene

Genomic Locations for ASIC5 Gene
chr4:155,829,729-155,866,273
(GRCh38/hg38)
Size:
36,545 bases
Orientation:
Minus strand
chr4:156,750,881-156,787,425
(GRCh37/hg19)

Genomic View for ASIC5 Gene

Genes around ASIC5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASIC5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASIC5 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ASIC5 Gene

Proteins for ASIC5 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ASIC5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NY37-ASIC5_HUMAN
    Recommended name:
    Acid-sensing ion channel 5
    Protein Accession:
    Q9NY37

    Protein attributes for ASIC5 Gene

    Size:
    505 amino acids
    Molecular mass:
    57464 Da
    Quaternary structure:
    • Homotrimer or heterotrimer with other ASIC proteins.

neXtProt entry for ASIC5 Gene

Protein Expression for ASIC5 Gene

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

Post-translational modifications for ASIC5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASIC5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ASIC5 Gene

Domains & Families for ASIC5 Gene

Gene Families for ASIC5 Gene

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

Protein Domains for ASIC5 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ASIC5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NY37

UniProtKB/Swiss-Prot:

ASIC5_HUMAN :
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC5 subfamily.
Family:
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC5 subfamily.
genes like me logo Genes that share domains with ASIC5: view

Function for ASIC5 Gene

Products:

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

Molecular function for ASIC5 Gene

UniProtKB/Swiss-Prot Function:
Cation channel that gives rise to very low constitutive currents in the absence of activation. The activated channel exhibits selectivity for sodium, and is inhibited by amiloride.

Gene Ontology (GO) - Molecular Function for ASIC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015252 proton channel activity IEA --
GO:0015280 ligand-gated sodium channel activity IEA --
GO:0044736 acid-sensing ion channel activity TAS --
genes like me logo Genes that share ontologies with ASIC5: view

Phenotypes for ASIC5 Gene

GenomeRNAi human phenotypes for ASIC5:
genes like me logo Genes that share phenotypes with ASIC5: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ASIC5

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ASIC5 Gene

Localization for ASIC5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASIC5 Gene

Cell membrane; Multi-pass membrane protein.

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 ASIC5 gene
Compartment Confidence
plasma membrane 4

Gene Ontology (GO) - Cellular Components for ASIC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ASIC5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ASIC5 Gene

Pathways & Interactions for ASIC5 Gene

genes like me logo Genes that share pathways with ASIC5: view

Pathways by source for ASIC5 Gene

1 KEGG pathway for ASIC5 Gene

Interacting Proteins for ASIC5 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 15)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000442477%0d%0a9606.ENSP00000319323%0d%0a9606.ENSP00000355721%0d%0a9606.ENSP00000215730%0d%0a9606.ENSP00000254976%0d%0a9606.ENSP00000249647%0d%0a
Selected Interacting proteins: Q9NY37-ASIC5_HUMAN ENSP00000442477 for ASIC5 Gene via IID STRING

Gene Ontology (GO) - Biological Process for ASIC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0015992 proton transport IEA --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with ASIC5: view

No data available for SIGNOR curated interactions for ASIC5 Gene

Drugs & Compounds for ASIC5 Gene

Products:

  1. Drug

(6) Drugs for ASIC5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for ASIC5 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
 7440-23-5
genes like me logo Genes that share compounds with ASIC5: view

Transcripts for ASIC5 Gene

Products:

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

mRNA/cDNA for ASIC5 Gene

(2) REFSEQ mRNAs :
(2) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASIC5 Gene

No ASD Table

Relevant External Links for ASIC5 Gene

GeneLoc Exon Structure for
ASIC5
ECgene alternative splicing isoforms for
ASIC5

Expression for ASIC5 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASIC5 Gene

mRNA expression in normal human tissues for ASIC5 Gene
mRNA expression by BioGPS for ASIC5 GenemRNA expression by GTEx for ASIC5 Gene

Protein differential expression in normal tissues from HIPED for ASIC5 Gene

This gene is overexpressed in Fetal gut (41.0) and Plasma (27.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ASIC5 Gene



Protein tissue co-expression partners for ASIC5 Gene

NURSA nuclear receptor signaling pathways regulating expression of ASIC5 Gene:

ASIC5

SOURCE GeneReport for Unigene cluster for ASIC5 Gene:

Hs.381349

mRNA Expression by UniProt/SwissProt for ASIC5 Gene:

Q9NY37-ASIC5_HUMAN
Tissue specificity: Detected in small intestine, duodenum and jejunum. Detected at very low levels in testis and rectum.

Evidence on tissue expression from TISSUES for ASIC5 Gene

  • Intestine(4)
genes like me logo Genes that share expression patterns with ASIC5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASIC5 Gene

Orthologs for ASIC5 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASIC5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ASIC5 34 33
  • 99.54 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia ASIC5 33 34
  • 87.33 (n)
cow
(Bos Taurus)
 Mammalia ACCN5 33
  • 84.29 (n)
ASIC5 34
  • 81 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Asic5 16 34 33
  • 80.93 (n)
rat
(Rattus norvegicus)
 Mammalia Asic5 33
  • 80.93 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ASIC5 34
  • 49 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ASIC5 33 34
  • 68.4 (n)
lizard
(Anolis carolinensis)
 Reptilia ASIC5 34
  • 65 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia asic5 33
  • 63.52 (n)
worm
(Caenorhabditis elegans)
 Secernentea acd-1 34
  • 17 (a)
 OneToMany
delm-1 34
  • 17 (a)
 OneToMany
delm-2 34
  • 17 (a)
 OneToMany
acd-2 34
  • 15 (a)
 OneToMany
acd-4 34
  • 15 (a)
 OneToMany
flr-1 34
  • 15 (a)
 OneToMany
acd-5 34
  • 14 (a)
 OneToMany
Species where no ortholog for ASIC5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for ASIC5 Gene

ENSEMBL:
Gene Tree for ASIC5 (if available)
TreeFam:
Gene Tree for ASIC5 (if available)

Paralogs for ASIC5 Gene

Paralogs for ASIC5 Gene

(2) SIMAP similar genes for ASIC5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ASIC5: view

Variants for ASIC5 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ASIC5 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs10001395 -- 155,845,683(-) G/A intron_variant
rs1000154524 -- 155,850,446(-) G/A intron_variant
rs1000157950 -- 155,858,615(-) A/G/T intron_variant
rs1000220469 -- 155,857,261(-) C/T intron_variant
rs1000261173 -- 155,835,188(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ASIC5 Gene

Variant ID Type Subtype PubMed ID
dgv856e201 CNV deletion 23290073
esv2385011 CNV deletion 18987734
esv2728570 CNV deletion 23290073
esv2728572 CNV deletion 23290073
esv2728575 CNV deletion 23290073
esv2728576 CNV deletion 23290073
esv3575777 CNV gain 25503493
nsv1029122 CNV gain 25217958
nsv830121 CNV gain 17160897

Variation tolerance for ASIC5 Gene

Residual Variation Intolerance Score: 63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.12; 38.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASIC5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASIC5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASIC5 Gene

Disorders for ASIC5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ASIC5 Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
liddle syndrome
  • lidls
- elite association - COSMIC cancer census association via MalaCards
Search ASIC5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ASIC5

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ASIC5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASIC5 Gene

Publications for ASIC5 Gene

  1. Molecular cloning, functional expression and chromosomal localization of an amiloride-sensitive Na(+) channel from human small intestine. (PMID: 10767424) Schaefer L … Lingueglia E (FEBS letters 2000) 2 3 4 58
  2. Pharmacological and electrophysiological characterization of the human bile acid-sensitive ion channel (hBASIC). (PMID: 23842738) Lefèvre CM … Wiemuth D (Pflugers Archiv : European journal of physiology 2014) 3 58
  3. Improving survival by increasing lung edema clearance: is airspace delivery of dopamine a solution? (PMID: 18439324) Jaitovich A … Sznajder JI (Critical care (London, England) 2008) 22 58
  4. Amiloride-sensitive sodium channels on the parietal human peritoneum: evidence by ussing-type chamber experiments. (PMID: 17515725) Stefanidis I … Molyvdas PA (ASAIO journal (American Society for Artificial Internal Organs : 1992) 2007) 22 58
  5. Distinct domain-dependent effect of syntaxin1A on amiloride-sensitive sodium channel (ENaC) currents in HT-29 colonic epithelial cells. (PMID: 17200691) Saxena SK … George C (International journal of biological sciences 2006) 22 58

Products for ASIC5 Gene

Sources for ASIC5 Gene

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