ASIC2 (Entrez ID: 40)

Entrez Gene ID	40
Official Gene Symbol	ASIC2 (GeneCards)
Full name	acid sensing ion channel subunit 2
Location	17q11.2-q12
Other ids	Vega : OTTHUMG00000132885 MIM : 601784 HGNC : HGNC:99 Ensembl : ENSG00000108684
Other names	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]

Variants

Found 14 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
19798	40	ASIC2	17	32366529	32366529	Asymptomatic	HiSeq X Ten
19893	40	ASIC2	17	31956843	31956843	Asymptomatic	HiSeq X Ten
19960	40	ASIC2	17	31536695	31536695	Asymptomatic	HiSeq X Ten
20040	40	ASIC2	17	32214244	32214244	Asymptomatic	HiSeq X Ten
20062	40	ASIC2	17	32029517	32029517	Asymptomatic	HiSeq X Ten
20075	40	ASIC2	17	31758173	31758173	Asymptomatic	HiSeq X Ten
20093	40	ASIC2	17	32157528	32157528	Asymptomatic	HiSeq X Ten
20123	40	ASIC2	17	31836784	31836784	Cockayne syndrome	HiSeq X Ten
20124	40	ASIC2	17	31953898	31953898	Cockayne syndrome	HiSeq X Ten
20167	40	ASIC2	17	31881249	31881249	Xeroderma Pigmentosum	HiSeq X Ten
23900	40	ASIC2	17	31374249	31374249	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
23920	40	ASIC2	17	31867952	31867952	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
28241	40	ASIC2	17	32002012	32002012	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
28284	40	ASIC2	17	31995732	31995732	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning