AutismKB 2.0

Annotation Detail for UPF2


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Basic Information Top
Gene Symbol:UPF2 ( DKFZp434D222,HUPF2,KIAA1408,MGC138834,MGC138835,RENT2,smg-3 )
Gene Full Name: UPF2 regulator of nonsense transcripts homolog (yeast)
Band: 10p14
Quick LinksEntrez ID:26019; OMIM: 605529; Uniprot ID:RENT2_HUMAN; ENSEMBL ID: ENSG00000151461; HGNC ID: 17854
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1088Phosphothreonine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
16Phosphoserine(CK1)HMM predict
30Phosphothreonine(PKC)HMM predict
86Phosphoserine(CK1)HMM predict
188Phosphoserine(CK1)HMM predict
258N-linkedHMM predict
301Phosphoserine(CK1)HMM predict
335N-linkedHMM predict
345Phosphoserine(CDC2)HMM predict
345Phosphoserine(MAPK)HMM predict
399Phosphotyrosine(Syk)HMM predict
452Phosphotyrosine(INSR)HMM predict
506Phosphoserine(PKG)HMM predict
560Phosphothreonine(PKC)HMM predict
664N-linkedHMM predict
666Phosphothreonine(PKC)HMM predict
682N-linkedHMM predict
763Phosphothreonine(PKC)HMM predict
870Phosphoserine(PKG)HMM predict
870Phosphoserine(PKA)HMM predict
871Phosphoserine(PKG)HMM predict
908O-linkedHMM predict
909O-linkedHMM predict
992Phosphoserine(CK1)HMM predict
1048N-linkedHMM predict
1053N-linkedHMM predict
1061Phosphoserine(ATM)HMM predict
1061Phosphoserine(CK1)HMM predict
1061Phosphoserine(CK2)HMM predict
1078Phosphotyrosine(Syk)HMM predict
1078SulfotyrosineHMM predict
1086N-linkedHMM predict
1088Phosphothreonine(CK2)HMM predict
1092N-linkedHMM predict
1228Phosphotyrosine(Syk)HMM predict
1228Phosphotyrosine(EGFR)HMM predict
1228Phosphotyrosine(INSR)HMM predict
1228SulfotyrosineHMM predict
1244Phosphothreonine(PKC)HMM predict
1259ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015542
  • Location:chr10 12002027-12124813
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 11983571 11984411 840 18037
hScc1 BcellGSE12603 11990855 11991315 460 10943
hScc1 BcellGSE12603 11995034 11995187 153 6917
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 12068604 12069001 397 0
CTCF CD4SISSRdata 12068604 12069001 397 0
CTCF HelaGSE12889 12068667 12068904 237 0
H3K4me2 HCT116GSE10453 12123690 12124223 533 0
H3K4me3 colorectalcancer 12123448 12124054 606 0
H3ac HepG2E 12122545 12124681 2136 0
Myc K562GSE19551 12068595 12068917 322 0
Nanog hESGSE18292 12068570 12068967 397 0
Oct1 H2O2-HelaGSE14283 12023391 12023424 33 0
Oct1 H2O2-HelaGSE14283 12069129 12069163 34 0
Oct1 H2O2-HelaGSE14283 12082904 12082933 29 0
Oct1 HelaGSE14283 12023393 12023424 31 0
Oct1 HelaGSE14283 12038718 12038751 33 0
Oct1 HelaGSE14283 12069122 12069163 41 0
Oct1 HelaGSE14283 12120645 12120680 35 0
Oct4 ESGSE20650 12018443 12018811 368 0
PHF8 293TGSE20725 12124234 12125217 983 0
RARA MCF7GSE15244 12012801 12013096 295 0
RARG MCF7GSE15244 12012801 12013096 295 0
Rb QuiescentGSE19898 12124667 12124914 247 0
USF2 HepG2E 12032480 12033031 551 0
hScc1 BcellGSE12603 12068526 12069004 478 0
hScc1 BcellGSE12603 12123729 12124986 1257 0
hScc1 CdLSGSE12603 12068414 12069069 655 0
hScc1 CdLSGSE12603 12123690 12124786 1096 0
hScc1 G2GSE9613 12068526 12069038 512 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


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