AutismKB 2.0

Annotation Detail for P2RX4


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Basic Information Top
Gene Symbol:P2RX4 ( P2X4,P2X4R )
Gene Full Name: purinergic receptor P2X, ligand-gated ion channel, 4
Band: 12q24.31
Quick LinksEntrez ID:5025; OMIM: 600846; Uniprot ID:P2RX4_HUMAN; ENSEMBL ID: ENSG00000135124; HGNC ID: 8535
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
75N-linked (GlcNAc...) (Potential).
110N-linked (GlcNAc...) (Potential).
153N-linked (GlcNAc...) (Potential).
184N-linked (GlcNAc...).
199N-linked (GlcNAc...) (Potential).
208N-linked (GlcNAc...) (Potential).
378Phosphotyrosine (By similarity).
Location(AA) Modifications Resource
75N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
110N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
153N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
184N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
199N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
208N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
59Phosphoserine(IKK)HMM predict
59Phosphoserine(CK1)HMM predict
59O-linkedHMM predict
75N-linkedHMM predict
110N-linkedHMM predict
136O-linkedHMM predict
141O-linkedHMM predict
146Phosphothreonine(PKC)HMM predict
153N-linkedHMM predict
199N-linkedHMM predict
204N-linkedHMM predict
208N-linkedHMM predict
281Phosphothreonine(PKA)HMM predict
372Phosphotyrosine(SRC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002560
  • Location:chr12 120132046-120156289
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 120125754 120125993 239 6173
RARA MCF7GSE15244 120125104 120126015 911 6487
STAT1 HeLaGSE12782 120120508 120121879 1371 10853
STAT1 HeLaGSE12783 120120627 120121649 1022 10909
TFAP2C MCF7GSE21234 120125015 120125746 731 6666
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 120152556 120152823 267 0
CTCF CD4SISSRdata 120152556 120152823 267 0
CTCF HelaGSE12889 120152511 120152776 265 0
CTCF G2GSE9613 120132102 120132467 365 0
CTCF G2GSE9613 120145577 120146230 653 0
CTCF G2GSE9613 120151164 120151594 430 0
CTCF G2GSE9613 120152591 120153057 466 0
CTCF G2GSE9613 120154209 120154787 578 0
CTCF G2GSE9613 120155455 120156174 719 0
ER MCF7GSE19013 120149339 120149926 587 0
FOXA1 DLD1GSE12801 120149324 120149956 632 0
FOXA1 MCF7GSE15244 120132989 120133187 198 0
FOXA1 MCF7GSE15244 120149324 120149956 632 0
Fos K562GSE19551 120137188 120137704 516 0
FoxA1 MCF7MACSdata 120149539 120149753 214 0
H3K4me3 colorectalcancer 120132263 120132467 204 0
NRSF pAbJurkat 120132102 120132467 365 0
NRSF pAbJurkat 120154209 120154423 214 0
PHF8 HeLaGSE20725 120131794 120132887 1093 0
PHF8 Hs68minusFBSGSE20725 120131963 120132780 817 0
Pol2 GM12878GSE19551 120132063 120132714 651 0
RARA MCF7GSE15244 120149324 120149956 632 0
RARG MCF7GSE15244 120149324 120149956 632 0
Rb SenescentGSE19898 120152516 120152765 249 0
TFAP2C MCF7GSE21234 120149169 120150103 934 0
TFAP2C MCF7GSE21234 120155381 120155795 414 0
hScc1 BcellGSE12603 120132102 120132467 365 0
hScc1 BcellGSE12603 120152591 120153057 466 0
hScc1 BcellGSE12603 120154209 120154531 322 0
hScc1 CdLSGSE12603 120132102 120132467 365 0
hScc1 CdLSGSE12603 120145794 120146230 436 0
hScc1 CdLSGSE12603 120152591 120152880 289 0
hScc1 G2GSE9613 120145613 120146230 617 0
hScc1 G2GSE9613 120152591 120153057 466 0
p130 SenescentGSE19898 120132228 120132522 294 0
p130 SenescentGSE19898 120132637 120132846 209 0
p130 shRbSenescentGSE19898 120132329 120132517 188 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018