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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, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2 has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
ASIC3 (Acid Sensing Ion Channel Subunit 3) is a Protein Coding gene. Diseases associated with ASIC3 include Frozen Shoulder and Femoral Cancer. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF). Gene Ontology (GO) annotations related to this gene include PDZ domain binding and sodium channel activity. An important paralog of this gene is ASIC1.
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.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH07J151046 | Enhancer | 0.9 | Ensembl ENCODE | 250.7 | -1.4 | -1391 | 1.8 | ZNF217 MBD2 SIN3A TCF7L2 SMARCE1 FOXA1 MAZ ZBTB48 ZNF189 DPF2 | ASIC3 ABCB8 ENSG00000244151 HSALNG0062326 | |
GH07J151048 | Promoter | 0.4 | EPDnew | 250.7 | +0.5 | 517 | 0.1 | ZNF600 | ASIC3 SLC4A2 lnc-FASTK-4 | |
GH07J151050 | Promoter | 0.4 | EPDnew | 250.7 | +0.4 | 415 | 0.1 | ZNF600 | ASIC3 SLC4A2 lnc-FASTK-4 | |
GH07J151052 | Enhancer | 0.4 | Ensembl | 250.7 | -0.2 | -191 | 0.2 | NFIB HIC1 NFIC | ASIC3 HSALNG0062326 ABCB8 | |
GH07J150364 | Promoter/Enhancer | 2.7 | EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER | 12.5 | -679.8 | -679819 | 7 | CHD2 TBP ZBTB10 MXD4 CEBPA NR2C1 MNT IKZF1 SMAD5 ETS1 | REPIN1 HSALNG0062264 HSALNG0062265 ZNF775 ZNF767P ENSG00000244151 NUB1 ZNF777 ATP6V0E2-AS1 ENSG00000273419 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005261 | cation channel activity | TAS | 9744806 |
GO:0005272 | sodium channel activity | IEA,TAS | 9571199 |
GO:0015280 | ligand-gated sodium channel activity | IBA | 21873635 |
GO:0042931 | enterobactin transmembrane transporter activity | IEA | -- |
GO:0044736 | acid-sensing ion channel activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS,IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Ion channel transport | ||
2 | Development Endothelin-1/EDNRA signaling | ||
3 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
4 | CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) |
CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
-
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006812 | cation transport | IEA | -- |
GO:0006814 | sodium ion transport | IEA | -- |
GO:0007165 | signal transduction | TAS | 9744806 |
GO:0007600 | sensory perception | TAS | 9744806 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Salicylic acid | Approved, Investigational, Vet_approved | Pharma | Channel blocker | 331 | ||
Amiloride | Approved | Pharma | Channel blocker, blocker | 61 | ||
Aspirin | Approved, Vet_approved | Pharma | Channel blocker, inhibitor | 1578 | ||
Diclofenac | Approved, Vet_approved | Pharma | Channel blocker, inhibitor | 412 | ||
agmatine | Experimental | Pharma | Activator, Target, agonist | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
sodium |
|
7440-23-5 | ||||
A317567 |
|
Channel blocker |
|
|
||
H<sup>+</sup> (extracellular) |
|
Activator |
|
|
Compound | Action | Cas Number |
---|---|---|
GMQ hydrochloride | 5361-15-9 | |
β-Pompilidotoxin | Slows Na+ channel inactivation | 216064-36-7 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ACCN3 30 |
|
||
ASIC3 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | ACCN3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ASIC3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Asic3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Asic3 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ASIC3 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ASIC3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | asic1b 31 |
|
ManyToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs114024820 | Benign: not provided | 151,050,809(+) |
C/T NM_004769.4(ASIC3):c.865C>T (p.Pro289Ser) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs145775749 | Benign: not provided | 151,049,265(+) |
G/A NM_004769.4(ASIC3):c.380G>A (p.Arg127His) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs377265988 | Likely Benign: not provided | 151,050,753(+) |
C/A NM_004769.4(ASIC3):c.814-5C>A |
INTRON | |
rs769451008 | Likely Benign: not provided | 151,050,787(+) |
T/C NM_004769.4(ASIC3):c.843T>C (p.Asp281=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs1864545 | - |
p.Asn228Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3695n106 | OTHER | inversion | 24896259 |
dgv6756n100 | CNV | gain | 25217958 |
nsv1067934 | OTHER | inversion | 25765185 |
nsv1151906 | OTHER | inversion | 26484159 |
nsv524928 | CNV | gain | 19592680 |
nsv526410 | CNV | loss | 19592680 |
nsv831188 | CNV | loss | 17160897 |
nsv951648 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
frozen shoulder |
|
|
femoral cancer |
|
|
myofascial pain syndrome |
|
|
miliaria rubra |
|
|
miliaria |
|
|