ASIC2 acid sensing ion channel subunit 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ASIC2provided by HGNC
Official Full Name: acid sensing ion channel subunit 2provided by HGNC
Primary source: HGNC:HGNC:99
See related: Ensembl:ENSG00000108684 MIM:601784; AllianceGenome:HGNC:99
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ACCN; BNC1; MDEG; ACCN1; BNaC1; ASIC2a; hBNaC1
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]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
Expression: Biased expression in brain (RPKM 2.7), endometrium (RPKM 2.6) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q11.2-q12

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (33013087..34156768, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (33959166..35103157, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (31340105..32483787, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ASIC2 Synergizes with TRPV1 in the Mechano-Electrical Transduction of Arterial Baroreceptors.
Title: ASIC2 Synergizes with TRPV1 in the Mechano-Electrical Transduction of Arterial Baroreceptors.
Expression Profiles of ASIC1/2 and TRPV1/4 in Common Skin Tumors.
Title: Expression Profiles of ASIC1/2 and TRPV1/4 in Common Skin Tumors.
Analysis of human autoptic brain tissue in multiple sclerosis (MS) and control samples showed an increase of ASIC 2 mRNA in MS samples.
Title: Acid sensing ion channel 2: A new potential player in the pathophysiology of multiple sclerosis.
ASIC2 could be crucial in the pathogenesis of osteoporosis and could serve as a therapeutic target for antiosteoporotic therapies.
Title: High Expression of Acid-Sensing Ion Channel 2 (ASIC2) in Bone Cells in Osteoporotic Vertebral Fractures.
hippocampal glucose hypometabolism elevates ASIC2a expression by suppressing TFCP2 expression, which further enhances the intrinsic excitability of CA1 pyramidal neurons and increases seizure susceptibility in patients with temporal lobe epilepsy.
Title: Glucose Deficiency Elevates Acid-Sensing Ion Channel 2a Expression and Increases Seizure Susceptibility in Temporal Lobe Epilepsy.
Study shows that ASIC2 promotes metastasis of colorectal cancer (CRC) cells by activating the calcineurin/NFAT1 pathway under acidosis and high expression of ASIC2 predicts poor outcomes of patients with CRC.
Title: The acid-sensing ion channel, ASIC2, promotes invasion and metastasis of colorectal cancer under acidosis by activating the calcineurin/NFAT1 axis.
The authors finally confirmed that the ASIC2b isoform is delivered to the cell surface from the endoplasmic reticulum by forming heteromers with ASIC2a isoform, and that the N-terminal region of ASIC2a is additionally required for the ASIC2a-dependent membrane targeting of ASIC2b.
Title: Acid-Sensing Ion Channel 2a (ASIC2a) Promotes Surface Trafficking of ASIC2b via Heteromeric Assembly.
The ASIC2 are involved in fear behaviours, learning and memory functions, and pain sensation.
Title: The function and regulation of acid-sensing ion channels (ASICs) and the epithelial Na(+) channel (ENaC): IUPHAR Review 19.
The results show that acid-sensing ion channel 1, acid-sensing ion channel 2, and acid-sensing ion channel 3 are expressed in A549 cells at the messenger RNA and protein levels, and acid-sensing ion channel-like currents were elicited by extracellular acid stimuli.
Title: Acid-sensing ion channels contribute to the effect of extracellular acidosis on proliferation and migration of A549 cells.
ASICs may enhance susceptibility to epileptogenesis in the piriform cortex.
Title: Altered Expression Pattern of Acid-Sensing Ion Channel Isoforms in Piriform Cortex After Seizures.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel associations for hypothyroidism include known autoimmune risk loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S1316 (e-PCR)
- UniSTS:16387

SHGC-173267 (e-PCR)
- UniSTS:185351

SHGC-153682 (e-PCR)
- UniSTS:183065

SHGC-154441 (e-PCR)
- UniSTS:183072

G28628 (e-PCR)
- UniSTS:67105

SHGC-155068 (e-PCR)
- UniSTS:183083

G09780 (e-PCR)
- UniSTS:42544

G62594 (e-PCR)
- UniSTS:139574

SHGC-156229 (e-PCR)
- UniSTS:183094

RH92493 (e-PCR)
- UniSTS:86857

D17S1694 (e-PCR)
- UniSTS:17994

SHGC-106373 (e-PCR)
- UniSTS:169805

RH66290 (e-PCR)
- UniSTS:25173

RH28431 (e-PCR)
- UniSTS:86870

RH76641 (e-PCR)
- UniSTS:85095

STS-AA019851 (e-PCR)
- UniSTS:24681

RH67569 (e-PCR)
- UniSTS:87662

D17S1540 (e-PCR), detects polymorphism
- UniSTS:27508

D17S1850 (e-PCR)
- UniSTS:74871

RH93845 (e-PCR)
- UniSTS:91771

SHGC-146075 (e-PCR)
- UniSTS:174984

RH123189 (e-PCR)
- UniSTS:135570

G09898 (e-PCR)
- UniSTS:31378

D17S2139 (e-PCR)
- UniSTS:68509

D17S2194 (e-PCR), detects polymorphism
- UniSTS:3749

SHGC-147393 (e-PCR)
- UniSTS:175788

SHGC-145757 (e-PCR)
- UniSTS:174772

G72125 (e-PCR)
- UniSTS:229567

G72118 (e-PCR)
- UniSTS:229568

G49579 (e-PCR)
- UniSTS:109248

SHGC-154446 (e-PCR)
- UniSTS:178112

G72122 (e-PCR)
- UniSTS:229569

G72120 (e-PCR)
- UniSTS:229570

G72117 (e-PCR)
- UniSTS:229571

G72124 (e-PCR)
- UniSTS:229574

G72121 (e-PCR)
- UniSTS:229575

FB6F10 (e-PCR)
- UniSTS:21960

G72123 (e-PCR)
- UniSTS:229576

G72119 (e-PCR)
- UniSTS:229577

SHGC-153663 (e-PCR)
- UniSTS:177870

RH48684 (e-PCR)
- UniSTS:66000

G32877 (e-PCR)
- UniSTS:117456

AB056819 (e-PCR)
- UniSTS:480209

G42370 (e-PCR)
- UniSTS:139484

TLK2_8170 (e-PCR)
- UniSTS:467939

SHGC-84158 (e-PCR)
- UniSTS:104675

G62513 (e-PCR)
- UniSTS:139493

D17S1656 (e-PCR)
- UniSTS:33263

RH122277 (e-PCR)
- UniSTS:134903

NoName (e-PCR)
- UniSTS:482295

SHGC-81279 (e-PCR)
- UniSTS:102652

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ligand-gated sodium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables monoatomic ion-gated channel activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables voltage-gated sodium channel activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cellular response to acidic pH	IEA Inferred from Electronic Annotation more info
involved_in cellular response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in central nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in chemical synaptic transmission	TAS Traceable Author Statement more info	PubMed
involved_in detection of mechanical stimulus involved in sensory perception	IEA Inferred from Electronic Annotation more info
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in inorganic cation transmembrane transport	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in peripheral nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in phototransduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of synapse assembly	IEA Inferred from Electronic Annotation more info
involved_in protein localization to synapse	IEA Inferred from Electronic Annotation more info
involved_in regulation of membrane potential	IEA Inferred from Electronic Annotation more info
involved_in regulation of monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynapse assembly	IEA Inferred from Electronic Annotation more info
involved_in regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback	IEA Inferred from Electronic Annotation more info
involved_in regulation of vasoconstriction	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sour taste	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in synapse assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in dendritic spine	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic density membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: acid-sensing ion channel 2

Names: acid sensing (proton gated) ion channel 2; amiloride-sensitive cation channel 1, neuronal; brain Na+ channel-1; brain sodium channel 1; mammalian degenerin homolog; neuronal amiloride-sensitive cation channel 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029763.2 RefSeqGene

Range

868473..1148681

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001094.5 → NP_001085.2 acid-sensing ion channel 2 isoform MDEG1

See identical proteins and their annotated locations for NP_001085.2

Status: REVIEWED

Description

Transcript Variant: This variant (MDEG1) uses an alternate 5'-terminal exon, compared to variant MDEG2, resulting in a shorter isoform (MDEG1) with a distinct N-terminus, compared to isoform MDEG2.

Source sequence(s)

AC003687, AC004147, AC008133

Consensus CDS

CCDS42296.1

UniProtKB/Swiss-Prot

E9PBX2, Q13553, Q16515, Q6DJU1, Q8N3E2

UniProtKB/TrEMBL

B2R7M8

Related

ENSP00000352934.6, ENST00000359872.6

Conserved Domains (1) summary

cl02990
Location:18 → 496

ASC; Amiloride-sensitive sodium channel
NM_183377.2 → NP_899233.1 acid-sensing ion channel 2 isoform MDEG2

See identical proteins and their annotated locations for NP_899233.1

Status: REVIEWED

Description

Transcript Variant: This variant (MDEG2) represents the longer transcript and encodes the longer isoform (MDEG2).

Source sequence(s)

AC003687, AC008133, AC025898

Consensus CDS

CCDS11276.1

UniProtKB/TrEMBL

B3KXQ3

Related

ENSP00000225823.2, ENST00000225823.7

Conserved Domains (1) summary

TIGR00859
Location:64 → 547

ENaC; sodium channel transporter