ASIC2 - acid sensing ion channel subunit 2 Gene

Also Known as ACCN; BNC1; MDEG; ACCN1; BNaC1; ASIC2a; hBNaC1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 40

About ASIC2

Cytogenetic location: 17q11.2-q12 Genomic coordinates (GRCh38): 17:33,013,087-34,156,768 (from NCBI)

This gene has 5 transcripts (splice variants), 233 orthologues and 8 paralogues. Biased expression in brain (RPKM 2.7), endometrium (RPKM 2.6) and 5 other tissues.

Summary

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, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012]

ASIC2 Products (2)

mRNA Protein Name
NM_001094.5 NP_001085.2 acid-sensing ion channel 2 isoform MDEG1
NM_183377.2 NP_899233.1 acid-sensing ion channel 2 isoform MDEG2

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
11802773 GOA
Biological Process GO Annotation Evidence References Source
involved in sensory perception of sour taste IMP
IMP: Inferred from mutant phenotype
19812697 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

ASIC2 Protein Structure

ASC

ASC: Amiloride-sensitive sodium channel (20 - 454)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 512 a.a.
Protein Preferred Names Protein Names

acid-sensing ion channel 2

  • acid sensing (proton gated) ion channel 2

ASIC2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ASIC2 Q16515 PICK1 Homo sapiens Q9NRD5
Y2H
11802773
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Pseudohypoaldosteronism, Type I, Autosomal Recessive

  • Autosomal Recessive Pseudohypoaldosteronism Type 1

  • PHA1B

  • Pseudohypoaldosteronism Type 1

  • Pseudohypoaldosteronism, Type I

  • Generalized Pha1

  • Generalized Pseudohypoaldosteronism Type 1

  • Pseudohypoaldosteronism Type 1 Autosomal Recessive

  • Pha1

  • Pseudohypoaldosteronism

  • Pha I, Autosomal Recessive

  • Autosomal Recessive Pha 1

  • Pseudohypoaldosteronism Type 1, Recessive

  • Pseudohypoaldosteronism Type I

  • Autosomal Recessive Pha1

  • Pha Type 1

  • Pseudohypoaldosteronism 1, Autosomal Recessive

  • Multisystem Pseudohypoaldosteronism

  • Pha Type I, Autosomal Recessive

  • Pseudohypoaldosteronism Type I, Autosomal Recessive
Panic Disorder

  • Panic Anxiety Syndrome

  • Panic

  • Panic Disorder 1

  • Episodic Paroxysmal Anxiety Disorder
Liddle Syndrome 1

  • Liddle Syndrome

  • Pseudoaldosteronism

  • Liddle'S Syndrome

  • LIDLS1

  • Lidls

  • Pseudohyperaldosteronism

  • Pseudoprimary Hyperaldosteronism

  • Pseudohyperaldosteronism Type 1

  • Liddles Syndrome
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive

  • FPHH

  • Melanosis Universalis Hereditaria

  • Muh

  • Familial Progressive Hyperpigmentation With Or Without Hypopigmentation

  • Hyperpigmentation, Familial Progressive, 2, Formerly

  • Fph2, Formerly

  • Hyperpigmentation With Or Without Hypopigmentation

  • Familial Progressive Hyper- And Hypopigmentation

  • Hyperpigmentation, Familial Progressive
Migraine With Or Without Aura 1

  • Migraine

  • Migraine With Or Without Aura, Susceptibility To, 1

  • Migraine Disorder

  • Migraine Variant

  • Migraines

  • Migraine Disorders

  • Mgr1

  • Mgau

  • Ma

  • Migraine With Or Without Aura

  • Classic Migraine

  • Common Migraine

  • Disorder, Migraine

  • Headache Migraine

  • Headache Migrainous

  • Migraine Headache

  • Migraine Syndrome

  • Headache Including Migraine

  • Migraine, Susceptibility To
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 (5)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-101005 N-Methylhistamine dihydrochloride 99.99% Unkown
HY-P5174 MitTx Activator 98.0% Unkown
HY-P1441A Mambalgin 1 TFA Inhibitor 95.72% Unkown
HY-P5172 MitTx-alpha Agonist / Unkown
HY-RS01090 ASIC2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus ASIC2 VGNC VGNC:69264
Canis familiaris ASIC2 VGNC VGNC:38178
Macaca mulatta ASIC2 VGNC VGNC:70241
Mus musculus ASIC2 MGD MGI:1100867
Bos taurus ASIC2 VGNC VGNC:26211
Rattus norvegicus ASIC2 RGD RGD:2017
Others ASIC2 NCBI