ASIC2 (acid sensing ion channel subunit 2)

2003-05-01 Affiliation

Identity

HGNC

ASIC2

LOCATION

17q11.2

LOCUSID

ALIAS

ACCN,ACCN1,ASIC2a,BNC1,BNaC1,MDEG,hBNaC1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 40
MIM: 601784
HGNC: 99
Ensembl: ENSG00000108684

Variants:

dbSNP: 40
ClinVar: 40
TCGA: ENSG00000108684
COSMIC: ASIC2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000108684	ENST00000225823	Q16515
ENSG00000108684	ENST00000359872	Q16515

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Taste transduction	KEGG	ko04742
Taste transduction	KEGG	hsa04742
Inflammatory mediator regulation of TRP channels	KEGG	hsa04750
Inflammatory mediator regulation of TRP channels	KEGG	ko04750
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
Ion channel transport	REACTOME	R-HSA-983712
Stimuli-sensing channels	REACTOME	R-HSA-2672351

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA447199	Bipolar Disorder	Disease	ClinicalAnnotation	associated		PD	21961650
PA450243	lithium	Chemical	ClinicalAnnotation	associated		PD	21961650

References

Pubmed ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
17553932	2007	Parkin-mediated monoubiquitination of the PDZ protein PICK1 regulates the activity of acid-sensing ion channels.	59
20201926	2010	Human variation in alcohol response is influenced by variation in neuronal signaling genes.	45
16704974	2006	Surface expression of ASIC2 inhibits the amiloride-sensitive current and migration of glioma cells.	37
27278329	2016	The function and regulation of acid-sensing ion channels (ASICs) and the epithelial Na(+) channel (ENaC): IUPHAR Review 19.	34
24847067	2014	Acid-sensing ion channel (ASIC) 1a/2a heteromers have a flexible 2:1/1:2 stoichiometry.	33
17376794	2007	High density SNP association study of a major autism linkage region on chromosome 17.	26
17548344	2007	A kinase-anchoring protein 150 and calcineurin are involved in regulation of acid-sensing ion channels ASIC1a and ASIC2a.	26
21961650	2011	Evidence for association of an ACCN1 gene variant with response to lithium treatment in Sardinian patients with bipolar disorder.	22
15504740	2004	Analysis of the membrane topology of the acid-sensing ion channel 2a.	18

Citation

Dessen P

ASIC2 (acid sensing ion channel subunit 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/551/asic2