1. Gene
  2. ASIC4 - acid sensing ion channel subunit family member 4 Gene

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

ASIC4 Protein Structure

ASC

ASC: Amiloride-sensitive sodium channel (172 - 573)

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  • 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