ASIC2 - acid sensing ion channel subunit 2 Gene

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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11802773	GOA

Biological Process GO Annotation	Evidence	Reference	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

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

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	95.72%	Unkown
HY-P5172	MitTx-alpha	Agonist	/	Unkown
HY-RS01090	ASIC2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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