ASIC5 Gene (Protein Coding)

Acid Sensing Ion Channel Subunit Family Member 5

GC04M155829
GIFtS:
34
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] See more...

Aliases for ASIC5 Gene

Aliases for ASIC5 Gene

  • Acid Sensing Ion Channel Subunit Family Member 5 2 3 5
  • HINAC 2 3 4
  • Amiloride-Sensitive Cation Channel 5, Intestinal 2 3
  • Human Intestine Na(+) Channel 3 4
  • Acid-Sensing Ion Channel 5 3 4
  • ACCN5 3 4
  • INAC 2 3
  • 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
  • ASIC5 5
  • HINaC 4

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 Pregnancy Loss, Recurrent 3 and Pseudohypoaldosteronism. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include sodium channel activity and proton channel activity. An important paralog of this gene is SCNN1G.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for ASIC5 Gene

Genomics for ASIC5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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
GH04J155866 Promoter 0.3 EPDnew 250.7 +1.0 1006 0.1 ASIC5 LOC105377507 TDO2 lnc-GUCY1B1-3
GH04J155854 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 0.4 +12.3 12287 1.2 RXRA TBP NFE2 ZNF143 IKZF1 RAD21 POLR2A TAF1 MAFK YY1 LOC105377507 TDO2 lnc-GUCY1B1-3 ASIC5
GH04J155888 Enhancer 0.8 ENCODE 0.4 -22.2 -22235 1.4 ATF3 YY1 BCL11A RXRA ZBTB33 JUND BHLHE40 SPI1 BATF ELF1 TDO2 piR-40832-014 piR-33570-007 ASIC5 lnc-GUCY1B1-3 CTSO
GH04J155906 Enhancer 0.9 Ensembl ENCODE 0.3 -40.4 -40365 2.3 YY1 FEZF1 ZNF341 RXRA ZBTB33 ZNF843 PRDM6 INSM2 HNF4A ZNF664 CTSO TDO2 HSALNG0038049 piR-46847-193 ASIC5 lnc-GUCY1B1-3
GH04J155899 Enhancer 0.7 Ensembl ENCODE 0.3 -33.3 -33289 1.5 ETS1 MAFF MAFK RAD21 SP1 NANOG MZF1 RXRA BACH1 piR-46847-193 TDO2 HSALNG0038049 ASIC5 lnc-GUCY1B1-3 CTSO
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASIC5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASIC5

Genomic Locations for ASIC5 Gene

Latest Assembly
chr4:155,829,699-155,867,303
(GRCh38/hg38)
Size:
37,605 bases
Orientation:
Minus strand

Previous Assembly
chr4:156,750,881-156,787,429
(GRCh37/hg19 by Entrez Gene)
Size:
36,549 bases
Orientation:
Minus strand

chr4:156,750,881-156,787,425
(GRCh37/hg19 by Ensembl)
Size:
36,545 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr4(ALT_REF_LOCI_1):1,271-30,900 (-)

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. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • 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

  • Glycosylation at Asn147 and Asn163
  • Modification sites at PhosphoSitePlus

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:
  • Na+ channel, amiloride-sensitive

Suggested Antigen Peptide Sequences for ASIC5 Gene

GenScript: Design optimal peptide antigens:
  • Human intestine Na(+) channel (ACCN5_HUMAN)

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 Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

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.

Phenotypes From GWAS Catalog for ASIC5 Gene

Gene Ontology (GO) - Molecular Function for ASIC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005272 sodium channel activity IEA --
GO:0015252 proton channel activity IEA --
GO:0015280 ligand-gated sodium channel activity IEA,IBA 21873635
genes like me logo Genes that share ontologies with ASIC5: view
genes like me logo Genes that share phenotypes with ASIC5: view

Animal Models for ASIC5 Gene

MGI Knock Outs for ASIC5:
  • Asic5 Asic5<tm2a(KOMP)Wtsi>
  • Asic5 Asic5<tm1b(KOMP)Mbp>

Animal Models for research

  • Taconic Biosciences Mouse Models for ASIC5

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASIC5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ASIC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
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 top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000442477 Q9NY37-ASIC5_HUMAN for ASIC5 Gene via STRING IID

GPS-Prot Interaction Network for ASIC5

Gene Ontology (GO) - Biological Process for ASIC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0034220 ion transmembrane transport TAS --
GO:0035725 sodium ion transmembrane transport IEA,IBA 21873635
GO:1902600 proton transmembrane transport IEA --
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 products for research

(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
  • Na(+)
  • Na+
  • SODIUM ion
  • Sodium(1+)
 7440-23-5
genes like me logo Genes that share compounds with ASIC5: view

Transcripts for ASIC5 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for ASIC5 Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASIC5

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

No ASD Table

Relevant External Links for ASIC5 Gene

GeneLoc Exon Structure for
ASIC5

Expression for ASIC5 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.2)
genes like me logo Genes that share expression patterns with ASIC5: view

Primer products for research

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 29 30
  • 99.54 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ASIC5 29 30
  • 87.33 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ACCN5 29
  • 84.29 (n)
ASIC5 30
  • 81 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Asic5 29 16 30
  • 80.93 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Asic5 29
  • 80.93 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia ASIC5 30
  • 49 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ASIC5 29 30
  • 68.4 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ASIC5 30
  • 65 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia asic5 29
  • 63.52 (n)
Worm
(Caenorhabditis elegans)
 Secernentea delm-1 30
  • 17 (a)
 OneToMany
delm-2 30
  • 17 (a)
 OneToMany
acd-1 30
  • 17 (a)
 OneToMany
acd-2 30
  • 15 (a)
 OneToMany
flr-1 30
  • 15 (a)
 OneToMany
acd-4 30
  • 15 (a)
 OneToMany
acd-5 30
  • 14 (a)
 OneToMany
Species where no ortholog for ASIC5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ASIC5: view image
Alliance of Genome Resources:
Additional Orthologs for ASIC5

Paralogs for ASIC5 Gene

Paralogs for ASIC5 Gene

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

  • ASIC5_HUMAN
genes like me logo Genes that share paralogs with ASIC5: view

Variants for ASIC5 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASIC5 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs1248841709 Pathogenic: Pregnancy loss, recurrent, susceptibility to, 3 155,852,222(-) C/A
NM_017419.3(ASIC5):c.680G>T (p.Arg227Ile) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ASIC5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
ASIC5

SNP Genotyping and Copy Number Assays for research

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

Disorders for ASIC5 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ASIC5 Gene - From: CVR, COP, and GCD

Disorder Aliases PubMed IDs
pregnancy loss, recurrent 3
  • pregnancy loss, recurrent, susceptibility to, 3
pseudohypoaldosteronism
liddle syndrome 1
  • lidls1
pseudohypoaldosteronism, type i, autosomal dominant
  • pha1a
common wart
- 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
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  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
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  4. 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
  5. 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

ExternalLinks

View latest publications for ASIC5 gene in Mastermind

Products for ASIC5 Gene

Sources for ASIC5 Gene