• Gene id: 55515

Gene Summary

• Gene Symbol: ASIC4   Gene   UCSC   Ensembl
• Aliases: ACCN4, BNAC4
• Gene name: acid sensing ion channel subunit family member 4
• Alternate names: acid-sensing ion channel 4, acid sensing ion channel family member 4, acid-sensing (proton-gated) ion channel family member 4, amiloride-sensitive cation channel 4, pituitary, amiloride-sensitive cation channel family member 4, pituitary, brain sodium channel ,
• Gene location: 2q35 (219514169: 219538771)     Exons: 11     NC_000002.12
• Gene summary(Entrez): This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predom
• OMIM: 606715

Protein Summary

• Protein general information: Q96FT7  
  • Name: Acid sensing ion channel 4 (ASIC4) (Amiloride sensitive cation channel 4) (Amiloride sensitive cation channel 4, pituitary)
  • Length: 647  
  • Mass: 70105
  • Tissue specificity: Expressed in pituitary gland. Weakly expressed in brain, vestibular system and organ of Corti. {ECO
• Sequence:

  MLSGAAGAARRGGAALAPSLTRSLAGTHAGADSCAGADKGSHKETIEERDKRQQRQQRQRQHQGCGAAGSGSDSP
  TSGPHPVPVLFPLALSLEEQPLPPLPLGRAPGLLAREGQGREALASPSSRGQMPIEIVCKIKFAEEDAKPKEKEA
  GDEQSLLGAVAPGAAPRDLATFASTSTLHGLGRACGPGPHGLRRTLWALALLTSLAAFLYQAAGLARGYLTRPHL
  VAMDPAAPAPVAGFPAVTLCNINRFRHSALSDADIFHLANLTGLPPKDRDGHRAAGLRYPEPDMVDILNRTGHQL
  ADMLKSCNFSGHHCSASNFSVVYTRYGKCYTFNADPRSSLPSRAGGMGSGLEIMLDIQQEEYLPIWRETNETSFE
  AGIRVQIHSQEEPPYIHQLGFGVSPGFQTFVSCQEQRLTYLPQPWGNCRAESELREPELQGYSAYSVSACRLRCE
  KEAVLQRCHCRMVHMPDSLGGGPEGPCFCPTPCNLTRYGKEISMVRIPNRGSARYLARKYNRNETYIRENFLVLD
  VFFEALTSEAMEQRAAYGLSALLGDLGGQMGLFIGASILTLLEILDYIYEVSWDRLKRVWRRPKTPLRTSTGGIS
  TLGLQELKEQSPCPSRGRVEGGGVSSLLPNHHHPHGPPGGLFEDFAC

• Structural information:
  • Interpro: IPR001873  IPR020903  
  • Prosite: PS01206
  • STRING: ENSP00000326627
• Other Databases: GeneCards:  ASIC4  Malacards:  ASIC4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005272	sodium channel activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006814	sodium ion transport	IEA	biological process
GO:0005272	sodium channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005216	ion channel activity	TAS	molecular function
GO:0015081	sodium ion transmembrane transporter activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0001662	behavioral fear response	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04750	Inflammatory mediator regulation of TRP channels

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq