ASIC4 - acid sensing ion channel subunit family member 4 Gene

Homo sapiens

Also known as ACCN4; BNAC4

Gene ID: 55515 | Gene type: protein coding

About ASIC4

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:219,507,093-219,538,772 (from NCBI)

This gene has 6 transcripts (splice variants), 237 orthologues and 8 paralogues. Biased expression in brain (RPKM 5.1), adrenal (RPKM 0.8) and 1 other tissue.

Summary

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 Products(2)

mRNA	Protein	Name
NM_018674.6	NP_061144.4	acid-sensing ion channel 4 isoform 1
NM_182847.3	NP_878267.3	acid-sensing ion channel 4 isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ASIC4 Protein Structure

ASC

0
100
200
300
400
500
600
647 a.a.

Protein Preferred Names

Protein Names

acid-sensing ion channel 4

acid sensing ion channel family member 4

Related Diseases

Diseases

Alias

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01092	ASIC4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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