AutismKB 2.0

Annotation Detail for POLG2


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Basic Information Top
Gene Symbol:POLG2 ( HP55,MTPOLB,PEOA4,POLB,POLG-BETA,POLGB )
Gene Full Name: polymerase (DNA directed), gamma 2, accessory subunit
Band: 17q23.3
Quick LinksEntrez ID:11232; OMIM: 604983; Uniprot ID:DPOG2_HUMAN; ENSEMBL ID: ENSG00000136480; HGNC ID: 9180
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
288N6-acetyllysine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
34Phosphothreonine(PKC)HMM predict
38Phosphoserine(CDC2)HMM predict
62Phosphoserine(IKK)HMM predict
80Phosphoserine(CDK)HMM predict
90Phosphoserine(CK1)HMM predict
95S-palmitoylHMM predict
152Phosphothreonine(PKC)HMM predict
163Phosphoserine(CK1)HMM predict
272N-linkedHMM predict
377S-palmitoylHMM predict
429Phosphotyrosine(Jak)HMM predict
432Phosphotyrosine(Syk)HMM predict
484AsparagineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_007215
  • Location:chr17 59904365-59923630
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF JurkatGSE12889 59923910 59924144 234 397
RARA MCF7GSE15244 59923852 59924604 752 598
RARG MCF7GSE15244 59923921 59924314 393 487
TAF HelaGSE8489 59924006 59924955 949 850
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 59900735 59900762 27 3617
p130 shRbSenescentGSE19898 59886194 59886511 317 18013
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 59923266 59923886 620 0
H3K4me2 HCT116GSE10453 59922720 59923407 687 0
H3K4me3 colorectalcancer 59922720 59923229 509 0
H3ac HepG2E 59922720 59924492 1772 0
Myc hESGSE17917 59923456 59923751 295 0
RARA MCF7GSE15244 59922720 59923485 765 0
RARG MCF7GSE15244 59918104 59918289 185 0
RARG MCF7GSE15244 59922720 59923485 765 0
TAF k562GSE8489 59922720 59923442 722 0
hScc1 BcellGSE12603 59923302 59923886 584 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