ASIC4 Gene (Protein Coding)

Acid Sensing Ion Channel Subunit Family Member 4

GC02P219514
GIFtS:
41
This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a mov... See more...

Aliases for ASIC4 Gene

Aliases for ASIC4 Gene

  • Acid Sensing Ion Channel Subunit Family Member 4 2 3 5
  • Amiloride-Sensitive Cation Channel 4, Pituitary 2 3 4
  • Acid-Sensing (Proton-Gated) Ion Channel Family Member 4 2 3
  • Acid Sensing Ion Channel Family Member 4 2 3
  • Acid-Sensing Ion Channel 4 3 4
  • ACCN4 3 4
  • BNAC4 2 3
  • Amiloride-Sensitive Cation Channel Family Member 4, Pituitary 3
  • Amiloride-Sensitive Cation Channel 4 4
  • Brain Sodium Channel 4 3
  • ASIC4 5

External Ids for ASIC4 Gene

Previous HGNC Symbols for ASIC4 Gene

  • ACCN4

Previous GeneCards Identifiers for ASIC4 Gene

  • GC02P218401
  • GC02P219100
  • GC02P220378

Summaries for ASIC4 Gene

Entrez Gene Summary for ASIC4 Gene

  • This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012]

GeneCards Summary for ASIC4 Gene

ASIC4 (Acid Sensing Ion Channel Subunit Family Member 4) is a Protein Coding gene. Diseases associated with ASIC4 include Branchiootorenal Syndrome 1 and Paroxysmal Dystonia. 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 ion channel activity and sodium ion transmembrane transporter activity. An important paralog of this gene is ASIC1.

UniProtKB/Swiss-Prot Summary for ASIC4 Gene

  • Probable cation channel with high affinity for sodium. In vitro, has no proton-gated channel activity.

Tocris Summary for ASIC4 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 ASIC4 Gene

Additional gene information for ASIC4 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASIC4 Gene

Genomics for ASIC4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ASIC4 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
GH02J219514 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 250.7 +0.4 408 0.4 NCOR1 ZNF600 MYC IKZF1 ZNF592 NFIC ZIC2 NONO REST HES1 ASIC4 ASIC4-AS1 TMEM198
GH02J219541 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 21.6 +30.0 30010 5.2 SP1 ZNF207 ZNF654 MYC ZNF600 JUND ZNF580 ZNF592 ZMYM3 ATF2 CHPF TMEM198 ASIC4 ZNF142 OBSL1 RNF25 INHA STK36 ENSG00000268896
GH02J219520 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 27.7 +7.8 7849 3.5 ZNF654 NCOR1 MYC IKZF1 ZNF592 ZNF223 NFIC ZIC2 REST BHLHE40 ASIC4 TMEM198 ENSG00000269068 ASIC4-AS1
GH02J219537 Enhancer 0.9 ENCODE CraniofacialAtlas 38.4 +24.4 24362 2.4 KLF9 ZIC2 KLF11 THRB RBM22 FOSL2 SOX5 CTCF EGR1 RBPJ ASIC4 ASIC4-AS1 GMPPA SPEG OBSL1 CHPF TMEM198
GH02J219438 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas dbSUPER 15.5 -71.2 -71242 10.3 ZNF600 ZNF223 ZIC2 ZBTB10 ZNF341 ZNF623 ZNF433 CTCF ZNF189 ZNF8 STK36 CNOT9 ASIC4 GMPPA DES ASIC4-AS1 RNF25 BCS1L STK11IP ZNF142
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASIC4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASIC4

Genomic Locations for ASIC4 Gene

Latest Assembly
chr2:219,514,170-219,538,772
(GRCh38/hg38)
Size:
24,603 bases
Orientation:
Plus strand

Previous Assembly
chr2:220,379,204-220,403,494
(GRCh37/hg19 by Entrez Gene)
Size:
24,291 bases
Orientation:
Plus strand

chr2:220,378,892-220,403,494
(GRCh37/hg19 by Ensembl)
Size:
24,603 bases
Orientation:
Plus strand

Genomic View for ASIC4 Gene

Genes around ASIC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASIC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASIC4 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ASIC4 Gene

Proteins for ASIC4 Gene

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  1. Antibodies for research
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  • Protein details for ASIC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96FT7-ASIC4_HUMAN
    Recommended name:
    Acid-sensing ion channel 4
    Protein Accession:
    Q96FT7
    Secondary Accessions:
    • Q53SB7
    • Q6GMS1
    • Q6PIN9
    • Q9NQA4

    Protein attributes for ASIC4 Gene

    Size:
    647 amino acids
    Molecular mass:
    70105 Da
    Quaternary structure:
    • Homotrimer or heterotrimer with other ASIC proteins.
    SequenceCaution:
    • Sequence=CAB93980.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAC51338.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ASIC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASIC4 Gene

Protein Expression for ASIC4 Gene

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

Post-translational modifications for ASIC4 Gene

  • Glycosylation at Asn318, Asn370, and Asn484
  • Modification sites at PhosphoSitePlus

Other Protein References for ASIC4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ASIC4 Gene

Domains & Families for ASIC4 Gene

Gene Families for ASIC4 Gene

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

Protein Domains for ASIC4 Gene

InterPro:
Blocks:
  • Na+ channel, amiloride-sensitive

Suggested Antigen Peptide Sequences for ASIC4 Gene

GenScript: Design optimal peptide antigens:
  • Amiloride-sensitive cation channel 4, pituitary (ACCN4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96FT7

UniProtKB/Swiss-Prot:

ASIC4_HUMAN :
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC4 subfamily.
Family:
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC4 subfamily.
genes like me logo Genes that share domains with ASIC4: view

Function for ASIC4 Gene

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  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 ASIC4 Gene

UniProtKB/Swiss-Prot Function:
Probable cation channel with high affinity for sodium. In vitro, has no proton-gated channel activity.

Phenotypes From GWAS Catalog for ASIC4 Gene

Gene Ontology (GO) - Molecular Function for ASIC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity TAS 10852210
GO:0005272 sodium channel activity IEA --
GO:0005515 protein binding IPI 32296183
GO:0015081 sodium ion transmembrane transporter activity TAS 10852210
GO:0015280 ligand-gated sodium channel activity IBA 21873635
genes like me logo Genes that share ontologies with ASIC4: view
genes like me logo Genes that share phenotypes with ASIC4: view

Animal Models for ASIC4 Gene

MGI Knock Outs for ASIC4:
  • Asic4 Asic4<tm1a(KOMP)Mbp>
  • Asic4 Asic4<tm1b(KOMP)Mbp>

Animal Models for research

  • Taconic Biosciences Mouse Models for ASIC4

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASIC4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ASIC4 Gene

Localization for ASIC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASIC4 Gene

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 ASIC4 gene
Compartment Confidence
plasma membrane 4
extracellular 2
nucleus 2
golgi apparatus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (2)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ASIC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS,IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ASIC4: view

Pathways & Interactions for ASIC4 Gene

genes like me logo Genes that share pathways with ASIC4: view

Pathways by source for ASIC4 Gene

1 KEGG pathway for ASIC4 Gene

Gene Ontology (GO) - Biological Process for ASIC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001662 behavioral fear response IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0035725 sodium ion transmembrane transport IBA 21873635
genes like me logo Genes that share ontologies with ASIC4: view

No data available for SIGNOR curated interactions for ASIC4 Gene

Drugs & Compounds for ASIC4 Gene

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(2) Drugs for ASIC4 Gene - From: ApexBio and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
APETx2 Pharma 0
P-552 Pharma 0

(1) Additional Compounds for ASIC4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
  • Sodium(1+)
 7440-23-5

(1) ApexBio Compounds for ASIC4 Gene

Compound Action Cas Number
APETx2 713544-47-9
genes like me logo Genes that share compounds with ASIC4: view

Drug products for research

Transcripts for ASIC4 Gene

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  3. Inhibitory RNAs for research
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mRNA/cDNA for ASIC4 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 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 ASIC4

Alternative Splicing Database (ASD) splice patterns (SP) for ASIC4 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: - - - -
SP2: - -
SP3: -
SP4: -

Relevant External Links for ASIC4 Gene

GeneLoc Exon Structure for
ASIC4

Expression for ASIC4 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ASIC4 Gene

mRNA expression in normal human tissues for ASIC4 Gene
mRNA expression by BioGPS for ASIC4 GenemRNA expression by GTEx for ASIC4 Gene

mRNA differential expression in normal tissues according to GTEx for ASIC4 Gene

This gene is overexpressed in Pituitary (x20.2).

Protein differential expression in normal tissues from HIPED for ASIC4 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ASIC4 Gene



Protein tissue co-expression partners for ASIC4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASIC4

SOURCE GeneReport for Unigene cluster for ASIC4 Gene:

Hs.87469

mRNA Expression by UniProt/SwissProt for ASIC4 Gene:

Q96FT7-ASIC4_HUMAN
Tissue specificity: Expressed in pituitary gland. Weakly expressed in brain, vestibular system and organ of Corti.

Evidence on tissue expression from TISSUES for ASIC4 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with ASIC4: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ASIC4 Gene

Orthologs for ASIC4 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASIC4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ACCN4 29
  • 99.33 (n)
ASIC4 30
  • 96 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ASIC4 29 30
  • 91.65 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ASIC4 29 30
  • 91.61 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Asic4 29
  • 91.54 (n)
Mouse
(Mus musculus)
 Mammalia Asic4 29 16 30
  • 91.15 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ASIC4 30
  • 89 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia ASIC4 30
  • 55 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ASIC4 29 30
  • 68.61 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ASIC4 30
  • 67 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia asic4 29
  • 65.19 (n)
Zebrafish
(Danio rerio)
 Actinopterygii asic4a 29 30
  • 65.89 (n)
 OneToMany
asic4b 30
  • 57 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea unc-105 31
  • 30 (a)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 30 (a)
 ManyToMany
-- 30
  • 24 (a)
 ManyToMany
Species where no ortholog for ASIC4 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)
  • 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 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)

Evolution for ASIC4 Gene

ENSEMBL:
Gene Tree for ASIC4 (if available)
TreeFam:
Gene Tree for ASIC4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASIC4: view image
Alliance of Genome Resources:
Additional Orthologs for ASIC4

Paralogs for ASIC4 Gene

Paralogs for ASIC4 Gene

(3) SIMAP similar genes for ASIC4 Gene using alignment to 1 proteins:

  • ASIC4_HUMAN
genes like me logo Genes that share paralogs with ASIC4: view

Variants for ASIC4 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASIC4 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs111598906 Likely Benign: not provided 219,535,199(+) G/A
NM_182847.2(ASIC4):c.1428G>A (p.Pro476=) 		SYNONYMOUS
rs113299906 Benign: not provided 219,532,351(+) G/A
NM_182847.2(ASIC4):c.1273G>A (p.Ala425Thr) 		MISSENSE
rs116598338 Likely Benign: not provided 219,514,822(+) T/C
NM_182847.2(ASIC4):c.479T>C (p.Val160Ala) 		MISSENSE
rs148622543 Benign: not provided 219,537,655(+) G/T
NM_182847.2(ASIC4):c.1749G>T (p.Arg583=) 		SYNONYMOUS
rs35780339 Benign: not provided 219,515,063(+) G/A
NM_182847.2(ASIC4):c.720G>A (p.Pro240=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ASIC4 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 ASIC4 Gene

Variant ID Type Subtype PubMed ID
nsv10220 CNV gain 18304495
nsv508887 CNV insertion 20534489
nsv520958 CNV loss 19592680
nsv584502 CNV gain 21841781
nsv834545 CNV loss 17160897

Variation tolerance for ASIC4 Gene

Residual Variation Intolerance Score: 54.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.27; 76.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASIC4 Gene

Human Gene Mutation Database (HGMD)
ASIC4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASIC4
Leiden Open Variation Database (LOVD)
ASIC4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASIC4 Gene

Disorders for ASIC4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ASIC4 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
branchiootorenal syndrome 1
  • bor1
paroxysmal dystonia
branchiootorenal syndrome
  • branchio-oto-renal syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ASIC4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ASIC4

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 ASIC4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASIC4 Gene

Publications for ASIC4 Gene

  1. A new member of acid-sensing ion channels from pituitary gland. (PMID: 10852210) Gründer S … Ruppersberg JP (Neuroreport 2000) 2 3 4
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Acid-sensing ion channel (ASIC) 4 gene: physical mapping, genomic organisation, and evaluation as a candidate for paroxysmal dystonia. (PMID: 11571555) Gründer S … Fink JK (European journal of human genetics : EJHG 2001) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

ExternalLinks

View latest publications for ASIC4 gene in Mastermind

Products for ASIC4 Gene

Sources for ASIC4 Gene