ASIC4 - acid sensing ion channel subunit family member 4 Gene

Also Known as ACCN4; BNAC4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55515

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 Referencias 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

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

  • 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

ASIC4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Referencias
Intra
ASIC4 Q96FT7 OTX2 Homo sapiens P32243-2
Y2H Prey Pooling
32296183
Intra
ASIC4 Q96FT7 OTX2 Homo sapiens P32243-2
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)
Referencia número Nombre del producto
Efecto
Pureza
Rare Diseases
HY-RS01092 ASIC4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown