2. Gene
  3. ASIC2 - acid sensing ion channel subunit 2 Gene

ASIC2 - acid sensing ion channel subunit 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 40 | Gene type: protein coding

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

ASIC2 Protein Structure

ASC

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

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  • 400
  • 512 a.a.
Protein Preferred Names Protein Names

acid-sensing ion channel 2

acid sensing (proton gated) ion channel 2

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
Bioactive Molecules (4)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-P5174 MitTx Activator ≥98.0% Unkown
HY-P1441A Mambalgin 1 TFA Inhibitor / Unkown
HY-P5172 MitTx-alpha Agonist / Unkown
HY-RS01090 ASIC2 Human Pre-designed siRNA Set A / 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