AutismKB 2.0

Annotation Detail for PANX2


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Basic Information Top
Gene Symbol:PANX2 ( MGC119432,PX2,hPANX2 )
Gene Full Name: pannexin 2
Band: 22q13.33
Quick LinksEntrez ID:56666; OMIM: 608421; Uniprot ID:PANX2_HUMAN; ENSEMBL ID: ENSG00000073150; HGNC ID: 8600
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
86N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
Location(AA) Modification Resource
70Phosphotyrosine(SRC)HMM predict
76N-linkedHMM predict
142Phosphoserine(CAMK2)HMM predict
178Phosphothreonine(CK2)HMM predict
194Phosphoserine(IKK)HMM predict
254Phosphoserine(CDC2)HMM predict
386Phosphothreonine(PKC)HMM predict
390Phosphoserine(PKA)HMM predict
394Phosphothreonine(PKC)HMM predict
529O-linkedHMM predict
538Phosphoserine(ATM)HMM predict
583O-linkedHMM predict
594Phosphothreonine(MAPK)HMM predict
610N-linkedHMM predict
623O-linkedHMM predict
624Phosphoserine(IKK)HMM predict
624Phosphoserine(CDC2)HMM predict
624Phosphoserine(ATM)HMM predict
628Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_052839
  • Location:chr22 48951316-48960845
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 48948159 48949942 1783 2266
H3ac HepG2E 48948444 48949737 1293 2226
RARA MCF7GSE15244 48948274 48949773 1499 2293
RARG MCF7GSE15244 48948596 48949513 917 2262
hScc1 BcellGSE12603 48950101 48950669 568 932
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
KLF4 hESGSE17917 48951260 48951414 154 0
hScc1 BcellGSE12603 48957190 48957818 628 0
hScc1 BcellGSE12603 48958315 48960052 1737 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