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22953 P2RX2

22953

P2RX2

purinergic receptor P2X 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition purinergic receptor P2X 2

研究结论

Date Results Publications
2020-10-24 13:58:00 Progressive Dominant Hearing Loss (Autosomal Dominant Deafness-41) and P2RX2 Gene Mutations: A Phenotype-Genotype Study. 31593348
2020-09-19 16:30:00 Identification of a distinct desensitisation gate in the ATP-gated P2X2 receptor. 31843194
2020-06-20 11:28:00 A study of 3 hearing loss mutations in hP2X2 receptors that found while D273Y results in nonfunctional channels, V60L and G353R are conductive channels with diminished response to ATP, revealing the importance of full-strength activation of hP2X2 receptors in hearing protection. 31636190
2018-09-22 11:02:00 identified P2RX2, KCNQ5, ERBB3 and SOCS3 to be associated with the progression of age-related hearing impairment 29325454
2018-05-26 11:48:00 These findings indicate that the CaMKII-mediated GluA1 phosphorylation of S567 and S831 is critical for P2X2-mediated AMPAR internalization and ATP-driven synaptic depression. 27624155

名称对应

Type IDs
Synonymous DFNA41, P2X2
Gene
UniProtKB-ID: P2RX2_HUMAN, Q32MC3_HUMAN
UniprotKB: Q9UBL9, Q32MC3
UniParc: UPI000002B049, UPI000002B04A, UPI000002B04B, UPI0000130FF3, UPI000002B04C, UPI00005DC750, UPI000052A468, UPI000002B048
EMBL: AF190824, AF260429, AF190823, AF109388, AF190826, AF190825, AF260426, AF260428, AC131212, AF109387, BC109200, AF260427, AF190822, AY346374
Ensembl: ENSG00000187848
KO: hsa:22953
Nucleutide sequences
EMBL-CDS: AAF19174.1, AAF19171.1, AAF74201.1, AAQ54329.1, AAF19173.1, AAF74203.1, AAF74204.1, AAF19172.1, AAF74202.1, AAF19170.1, AAD42947.1, AAD42948.1, AAI09201.1
Ensembl_TRS: ENST00000449132, ENST00000351222, ENST00000352418, ENST00000643471, ENST00000343948, ENST00000350048, ENST00000348800, ENST00000542301
Protein sequencees
Ensembl_PRO: ENSP00000344502, ENSP00000405531, ENSP00000343339, ENSP00000345095, ENSP00000343904, ENSP00000494644, ENSP00000341419, ENSP00000444477
RefSeq: NP_057402.1, NP_777361.1, NP_036358.2, XP_016874524.1, XP_005266212.1, XP_005266211.1, XP_005266213.1, NP_001269093.1, NP_001269094.1, NP_733783.1, XP_011533088.1, NP_733782.1, NP_777362.1
Others
UniRef100: UniRef100_Q9UBL9, UniRef100_Q32MC3
UniRef90: UniRef90_A0A2I3LHR1, UniRef90_Q9UBL9
UniRef50: UniRef50_P49653-2, UniRef50_Q9UBL9
UniGene: Hs.258580
CCDS: CCDS31930.1, CCDS31934.1, CCDS31935.1, CCDS31933.1, CCDS31931.1, CCDS61286.1, CCDS31932.1

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