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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]
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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. 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.
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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005216 | ion channel activity | TAS | 10852210 |
GO:0005272 | sodium channel activity | IEA | -- |
GO:0015081 | sodium ion transmembrane transporter activity | TAS | 10852210 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005887 | integral component of plasma membrane | TAS | 10852210 |
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 |
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:0034220 | ion transmembrane transport | IEA | -- |
GO:0035725 | sodium ion transmembrane transport | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
sodium |
|
7440-23-5 |
|
Compound | Action | Cas Number |
---|---|---|
APETx2 | 713544-47-9 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||
SP4: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ACCN4 30 |
|
||
ASIC4 31 |
|
OneToOne | |||
Dog (Canis familiaris) |
Mammalia | ASIC4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ASIC4 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Asic4 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Asic4 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ASIC4 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ASIC4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ASIC4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ASIC4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | asic4 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | asic4a 30 31 |
|
OneToMany | |
asic4b 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | unc-105 32 |
|
|
|
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
714167 | Benign: not provided | 219,537,655(+) | G/T | SYNONYMOUS_VARIANT | |
714981 | Benign: not provided | 219,515,063(+) | G/A | SYNONYMOUS_VARIANT | |
714982 | Benign: not provided | 219,532,351(+) | G/A | MISSENSE_VARIANT | |
732882 | Likely Benign: not provided | 219,535,199(+) | G/A | SYNONYMOUS_VARIANT | |
750293 | Likely Benign: not provided | 219,532,008(+) | G/A | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
branchiootorenal syndrome 1 |
|
|
paroxysmal dystonia |
|
|
branchiootorenal syndrome |
|
|
pseudohypoaldosteronism, type i, autosomal dominant |
|
|