AutismKB 2.0

Annotation Detail for PFKFB2


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Basic Information Top
Gene Symbol:PFKFB2 ( DKFZp781D2217,MGC138308,MGC138310,PFK-2/FBPase-2 )
Gene Full Name: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2
Band: 1q32.1
Quick LinksEntrez ID:5208; OMIM: 171835; Uniprot ID:F262_HUMAN; ENSEMBL ID: ENSG00000123836; HGNC ID: 8873
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
29Phosphoserine; by PKA (By similarity).
466Phosphoserine.
468Phosphothreonine.
475Phosphothreonine; by PKC (By similarity).
483Phosphoserine.
493Phosphoserine.
Location(AA) Modifications Resource
29Phosphoserine (by PKA) (By similarity).Swiss-Prot 53.0
466Phosphoserine (by PKA) (By similarity).Swiss-Prot 53.0
466Phosphoserine (AMPK
475Phosphothreonine (by PKC) (Bysimilarity).Swiss-Prot 53.0
483Phosphoserine (PKB
Location(AA) Modification Resource
6Phosphoserine(CK1)HMM predict
52Phosphothreonine(PKC)HMM predict
116Phosphotyrosine(Jak)HMM predict
131N-linkedHMM predict
132Phosphothreonine(PKC)HMM predict
174Phosphoserine(PKG)HMM predict
209Phosphotyrosine(Syk)HMM predict
337Phosphotyrosine(Syk)HMM predict
337Phosphotyrosine(SRC)HMM predict
337Phosphotyrosine(INSR)HMM predict
337Phosphotyrosine(EGFR)HMM predict
366Phosphotyrosine(EGFR)HMM predict
444Phosphothreonine(PKC)HMM predict
456N-linkedHMM predict
458Phosphothreonine(MAPK)HMM predict
458Phosphothreonine(CDC2)HMM predict
466Phosphoserine(PKA)HMM predict
466Phosphoserine(PKG)HMM predict
475Phosphothreonine(PKC)HMM predict
483Phosphoserine(PKA)HMM predict
493Phosphoserine(CDK)HMM predict
493Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001018053
  • Location:chr1 205293242-205320989
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 205324748 205324924 176 3847
CTCF CD4SISSRdata 205324748 205324924 176 3847
CTCF G2GSE9613 205324576 205324976 400 3787
Myc K562GSE19551 205324659 205325107 448 3894
hScc1 BcellGSE12603 205324550 205325046 496 3809
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 205317829 205318142 313 0
CTCF CD4SISSRdata 205317829 205318142 313 0
CTCF JurkatGSE12889 205317789 205318069 280 0
Myc K562GSE19551 205317654 205318106 452 0
hScc1 CdLSGSE12603 205317601 205318019 418 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