• Gene id: 41

Gene Summary

• Gene Symbol: ASIC1   Gene   UCSC   Ensembl
• Aliases: ACCN2, ASIC, BNaC2
• Gene name: acid sensing ion channel subunit 1
• Alternate names: acid-sensing ion channel 1, Cation channel, amiloride-sensitive, neuronal, 2, acid sensing (proton gated) ion channel 1, acid-sensing ion channel 1a protein, amiloride-sensitive cation channel 2, neuronal, brain sodium channel 2,
• Gene location: 12q13.12 (50057595: 50083621)     Exons: 14     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission
• OMIM: 602866

SNPs

rs868256749

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.63617303C>T
NC_000012.11   g.64011083C>T
NG_031909.1   g.56272G>A|SEQ=[C/T]|GENE=DPY19L2

rs751879424

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000012.12   g.63617339del
NC_000012.11   g.64011119del
NG_031909.1   g.56236del
NM_173812.4   c.1183del
NM_173812.5   c.1183del
XM_011538218.3   c.172del
XR_001748666.2   n.1335del
XM_006719352.2   c.754del
XM_017019192.2   c.1033del
XM_017019203.2   c.238del
XM_0170  

rs587777206

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.63624101G>A
NC_000012.11   g.64017881G>A
NG_031909.1   g.49474C>T
NM_173812.4   c.892C>T
NM_173812.5   c.892C>T
XR_001748666.2   n.1044C>T
XM_006719352.2   c.463C>T
XM_017019193.2   c.589C>T
XM_011538215.2   c.379C>T
XR_002957317.1   n.1044C>T
XR_002957  

rs587777205

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.63569312T>A
NC_000012.12   g.63569312T>G
NC_000012.11   g.63963092T>A
NC_000012.11   g.63963092T>G
NG_031909.1   g.104263A>T
NG_031909.1   g.104263A>C
NM_173812.4   c.2038A>T
NM_173812.4   c.2038A>C
NM_173812.5   c.2038A>T
NM_173812.5   c.2038A>C
XM_011  

rs147579680

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.63624124C>T
NC_000012.11   g.64017904C>T
NG_031909.1   g.49451G>A
NM_173812.4   c.869G>A
NM_173812.5   c.869G>A
XR_001748666.2   n.1021G>A
XM_006719352.2   c.440G>A
XM_017019193.2   c.566G>A
XM_011538215.2   c.356G>A
XR_002957317.1   n.1021G>A
XR_002957  

rs62180545

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.216859821A>G
NC_000002.11   g.217724544A>G|SEQ=[A/G]|GENE=TNP1
LOC101928278   101928278

rs17005650

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.122318633G>C
NC_000004.11   g.123239788G>C
NG_015813.2   g.153031G>C
NG_015813.1   g.153031G>C|SEQ=[G/C]|GENE=KIAA1109

rs16891278

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.42401679A>G
NC_000008.11   g.42401679A>T
NC_000008.10   g.42259197A>G
NC_000008.10   g.42259197A>T|SEQ=[A/G/T]|GENE=VDAC3

rs11135484

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.96886185A>G
NC_000005.9   g.96221889A>G
NG_027839.2   g.54799T>C
NG_051092.1   g.15247A>G|SEQ=[A/G]|GENE=ERAP1
ERAP2   64167

rs7896741

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.75219460G>C
NC_000010.10   g.76979218G>C|SEQ=[G/C]|GENE=VDAC2

rs7004637

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.42392929A>G
NC_000008.10   g.42250447A>G|SEQ=[A/G]|GENE=VDAC3
DKK4   27121

rs2804535

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.75212086C>A
NC_000010.11   g.75212086C>G
NC_000010.11   g.75212086C>T
NC_000010.10   g.76971844C>A
NC_000010.10   g.76971844C>G
NC_000010.10   g.76971844C>T|SEQ=[C/A/G/T]|GENE=VDAC2

rs2020880

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.101041997G>A
NC_000011.9   g.100912728G>A
NG_016475.1   g.92817C>T
NM_000926.4   c.2594C>T
NM_001202474.3   c.2102C>T
NR_073141.2   n.2535C>T
NR_073142.2   n.2418C>T
NM_001271161.2   c.1796C>T
NR_073143.2   n.2150C>T
NM_001271162.2   c.812C>T
NM_0012711  

rs937283

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.68808384A>G
NC_000012.11   g.69202164A>G
NG_016708.1   g.5194A>G
NM_002392.5   c.-94A>G
NM_001145339.2   c.-94A>G
XM_006719400.4   c.-281A>G|SEQ=[A/G]|GENE=MDM2

rs6773

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.42405639T>C
NC_000008.10   g.42263157T>C
NM_005662.7   c.*177T>C
NM_005662.6   c.*177T>C
NM_001135694.2   c.*177T>C
XM_006716394.1   c.*177T>C|SEQ=[T/C]|GENE=VDAC3

rs4680

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19963748G>A
NC_000022.10   g.19951271G>A
NG_011526.1   g.27009G>A
NM_000754.4   c.472G>A
NM_000754.3   c.472G>A
NM_007310.3   c.322G>A
NM_007310.2   c.322G>A
NM_001362828.2   c.472G>A
NM_001362828.1   c.472G>A
NM_001135161.2   c.472G>A
NM_001135161.1   c.

rs4938723

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.111511840T>C
NC_000011.9   g.111382565T>C|SEQ=[T/C]|GENE=BTG4
MIR34B   407041
MIR34C   407042
LOC728196   728196

rs17268974

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.7318929T>A
NC_000023.11   g.7318929T>C
NC_000023.11   g.7318929T>G
NC_000023.10   g.7236970T>A
NC_000023.10   g.7236970T>C
NC_000023.10   g.7236970T>G
NG_021472.2   g.176678T>A
NG_021472.2   g.176678T>C
NG_021472.2   g.176678T>G|SEQ=[T/A/C/G]|GENE=STS

rs5934740

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.7239611G>A
NC_000023.11   g.7239611G>C
NC_000023.10   g.7157652G>A
NC_000023.10   g.7157652G>C
NG_021472.2   g.97360G>A
NG_021472.2   g.97360G>C|SEQ=[G/A/C]|GENE=STS

rs5934842

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.7264242C>A
NC_000023.11   g.7264242C>G
NC_000023.10   g.7182283C>A
NC_000023.10   g.7182283C>G
NG_021472.2   g.121991C>A
NG_021472.2   g.121991C>G|SEQ=[C/A/G]|GENE=STS

rs5934913

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.7294236G>A
NC_000023.10   g.7212277G>A
NG_021472.2   g.151985G>A|SEQ=[G/A]|GENE=STS

rs6639811

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.7297762A>G
NC_000023.10   g.7215803A>G
NG_021472.2   g.155511A>G|SEQ=[A/G]|GENE=STS

rs3923341

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.7300859C>T
NC_000023.10   g.7218900C>T
NG_021472.2   g.158608C>T|SEQ=[C/T]|GENE=STS

rs5934937

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.7323041C>A
NC_000023.11   g.7323041C>G
NC_000023.11   g.7323041C>T
NC_000023.10   g.7241082C>A
NC_000023.10   g.7241082C>G
NC_000023.10   g.7241082C>T
NG_021472.2   g.180790C>A
NG_021472.2   g.180790C>G
NG_021472.2   g.180790C>T|SEQ=[C/A/G/T]|GENE=STS

rs2292596

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.422840C>G
NC_000005.10   g.422840C>T
NC_000005.9   g.422955C>G
NC_000005.9   g.422955C>T
NG_029834.2   g.123665C>G
NG_029834.2   g.123665C>T
NG_029834.1   g.123665C>G
NG_029834.1   g.123665C>T
NM_020731.4   c.565C>G
NM_020731.4   c.565C>T
NM_001242412.1  

rs11001334

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.75229537C>T
NC_000010.10   g.76989295C>T|SEQ=[C/T]|GENE=VDAC2

rs3834129

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000002.12   g.201232809_201232814del
NC_000002.11   g.202097532_202097537del
NG_007497.1   g.4352_4357del|SEQ=[AGTAAG/-]|GENE=CASP8

rs3740753

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.101128040C>G
NC_000011.9   g.100998771C>G
NG_016475.1   g.6774G>C
NM_000926.4   c.1031G>C
NM_001202474.3   c.539G>C
NR_073141.2   n.1024G>C
NR_073142.2   n.1024G>C
NM_001271161.2   c.539G>C
NR_073143.2   n.1024G>C
XM_006718858.3   c.1031G>C
XM_011542869  

rs11857513

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.50497226G>A
NC_000015.10   g.50497226G>C
NC_000015.9   g.50789423G>A
NC_000015.9   g.50789423G>C
NG_047101.1   g.77850G>A
NG_047101.1   g.77850G>C
NM_001128610.2   c.3033G>A
NM_001128610.2   c.3033G>C
NM_001128610.3   c.3033G>A
NM_001128610.3   c.3033G>

rs6836703

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.76108994G>A
NC_000004.11   g.77030147G>A|SEQ=[G/A]|GENE=ART3

rs3788862

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.43658116A>C
NC_000023.11   g.43658116A>G
NC_000023.10   g.43517364A>C
NC_000023.10   g.43517364A>G
NG_008957.2   g.6956A>C
NG_008957.2   g.6956A>G|SEQ=[A/C/G]|GENE=MAOA

Protein Summary

• Protein general information: P78348  
  • Name: Acid sensing ion channel 1 (ASIC1) (Amiloride sensitive cation channel 2, neuronal) (Brain sodium channel 2) (BNaC2)
  • Length: 528  
  • Mass: 59909
  • Tissue specificity: Expressed in most or all neurons.
• Sequence:

  MELKAEEEEVGGVQPVSIQAFASSSTLHGLAHIFSYERLSLKRALWALCFLGSLAVLLCVCTERVQYYFHYHHVT
  KLDEVAASQLTFPAVTLCNLNEFRFSQVSKNDLYHAGELLALLNNRYEIPDTQMADEKQLEILQDKANFRSFKPK
  PFNMREFYDRAGHDIRDMLLSCHFRGEVCSAEDFKVVFTRYGKCYTFNSGRDGRPRLKTMKGGTGNGLEIMLDIQ
  QDEYLPVWGETDETSFEAGIKVQIHSQDEPPFIDQLGFGVAPGFQTFVACQEQRLIYLPPPWGTCKAVTMDSDLD
  FFDSYSITACRIDCETRYLVENCNCRMVHMPGDAPYCTPEQYKECADPALDFLVEKDQEYCVCEMPCNLTRYGKE
  LSMVKIPSKASAKYLAKKFNKSEQYIGENILVLDIFFEVLNYETIEQKKAYEIAGLLGDIGGQMGLFIGASILTV
  LELFDYAYEVIKHKLCRRGKCQKEAKRSSADKGVALSLDDVKRHNPCESLRGHPAGMTYAANILPHHPARGTFED
  FTC

• Structural information:
  • Interpro: IPR001873  IPR004724  IPR020903  
  • Prosite: PS01206
  • STRING: ENSP00000228468
• Other Databases: GeneCards:  ASIC1  Malacards:  ASIC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035725	sodium ion transmembrane transport	IDA	biological process
GO:0071467	cellular response to pH	IDA	biological process
GO:0044736	acid-sensing ion channel activity	IDA	molecular function
GO:0070207	protein homotrimerization	ISS	biological process
GO:0035725	sodium ion transmembrane transport	ISS	biological process
GO:0044736	acid-sensing ion channel activity	ISS	molecular function
GO:0005887	integral component of plasma membrane	IMP	cellular component
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0005272	sodium channel activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0015280	ligand-gated sodium channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006814	sodium ion transport	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0005272	sodium channel activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0015280	ligand-gated sodium channel activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0009268	response to pH	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0015672	monovalent inorganic cation transport	IEA	biological process
GO:0001662	behavioral fear response	IEA	biological process
GO:0001975	response to amphetamine	IEA	biological process
GO:0005261	cation channel activity	IEA	molecular function
GO:0006812	cation transport	IEA	biological process
GO:0007613	memory	IEA	biological process
GO:0010447	response to acidic pH	IEA	biological process
GO:0022839	ion gated channel activity	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0009986	cell surface	IEA	cellular component
GO:0015077	monovalent inorganic cation transmembrane transporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0008306	associative learning	IEA	biological process
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0044736	acid-sensing ion channel activity	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0046929	negative regulation of neurotransmitter secretion	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0050915	sensory perception of sour taste	IMP	biological process
GO:0006814	sodium ion transport	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04750	Inflammatory mediator regulation of TRP channels

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)