AutismKB 2.0

Annotation Detail for PHACTR2


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Basic Information Top
Gene Symbol:PHACTR2 ( C6orf56,DKFZp686F18175,KIAA0680,MGC176642 )
Gene Full Name: phosphatase and actin regulator 2
Band: 6q24.2
Quick LinksEntrez ID:9749; OMIM: 608724; Uniprot ID:PHAR2_HUMAN; ENSEMBL ID: ENSG00000112419; HGNC ID: 20956
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
25Phosphothreonine.
522Phosphoserine.
Location(AA) Modifications Resource
522Phosphoserine.Swiss-Prot 53.0
522PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
23Phosphoserine(IKK)HMM predict
25Phosphothreonine(MAPK)HMM predict
36Phosphothreonine(PKC)HMM predict
49MethyllysineHMM predict
50MethyllysineHMM predict
54MethyllysineHMM predict
67Phosphoserine(PKG)HMM predict
67Phosphoserine(PKB)HMM predict
71Phosphoserine(PKG)HMM predict
109Phosphoserine(CK2)HMM predict
110Phosphothreonine(CK2)HMM predict
122N-linkedHMM predict
124Phosphoserine(CK2)HMM predict
129Phosphothreonine(MAPK)HMM predict
145N-linkedHMM predict
172Phosphoserine(CDC2)HMM predict
195MethyllysineHMM predict
198MethyllysineHMM predict
215N-linkedHMM predict
216Phosphothreonine(PKC)HMM predict
223Phosphoserine(CK2)HMM predict
226Phosphoserine(IKK)HMM predict
229Phosphothreonine(PKC)HMM predict
232O-linkedHMM predict
235O-linkedHMM predict
235Phosphoserine(PKG)HMM predict
235O-linkedHMM predict
237O-linkedHMM predict
237O-linkedHMM predict
237Phosphoserine(IKK)HMM predict
239O-linkedHMM predict
239Phosphoserine(IKK)HMM predict
240O-linkedHMM predict
241Phosphoserine(CK1)HMM predict
243O-linkedHMM predict
250Phosphoserine(PKG)HMM predict
253Phosphothreonine(PKC)HMM predict
270Phosphothreonine(PKC)HMM predict
281O-linkedHMM predict
281Phosphoserine(CK1)HMM predict
283O-linkedHMM predict
284O-linkedHMM predict
286Phosphoserine(CK2)HMM predict
292O-linkedHMM predict
298Phosphothreonine(PKC)HMM predict
317Phosphothreonine(PKC)HMM predict
334O-linkedHMM predict
334Phosphoserine(CDC2)HMM predict
352Phosphothreonine(MAPK)HMM predict
381N-linkedHMM predict
426Phosphoserine(IKK)HMM predict
428Phosphoserine(CK1)HMM predict
441N-linkedHMM predict
464Phosphoserine(CK2)HMM predict
464Phosphoserine(CK1)HMM predict
478Phosphothreonine(PKC)HMM predict
478Phosphothreonine(PKA)HMM predict
522Phosphoserine(PKG)HMM predict
526Phosphothreonine(CK2)HMM predict
526Phosphothreonine(PKC)HMM predict
556Phosphoserine(PKG)HMM predict
556Phosphoserine(PKC)HMM predict
556Phosphoserine(PKA)HMM predict
560Phosphoserine(PKG)HMM predict
579Phosphotyrosine(EGFR)HMM predict
585Phosphoserine(ATM)HMM predict
631PhenylalanineHMM predict
633PhenylalanineHMM predict
634PhenylalanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014721
  • Location:chr6 143971092-144188884
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 143954886 143955454 568 15923
Myc K562GSE19551 143961334 143961551 217 9650
STAT1 IFNSISSRdata 143959799 143960264 465 11061
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 144192810 144192861 51 3951
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 144040886 144041192 306 0
ER E2-MCF7GSE14664 144167959 144168019 60 0
ER E2-MCF7GSE14664 144172006 144172038 32 0
FOXA1 MCF7GSE15244 144107405 144109346 1941 0
FoxA1 MCF7MACSdata 144084549 144084745 196 0
FoxA1 MCF7MACSdata 144108251 144108819 568 0
Gata2 K562GSE18868 144170290 144171190 900 0
H3ac HepG2E 144041228 144042157 929 0
H3ac HepG2E 144042612 144043116 504 0
H3ac HepG2E 144106985 144109743 2758 0
H3ac HepG2E 144110089 144110830 741 0
Oct1 HelaGSE14283 144011462 144011490 28 0
Oct1 HelaGSE14283 144056685 144056763 78 0
Oct1 HelaGSE14283 144104233 144104262 29 0
Oct1 HelaGSE14283 144105400 144105432 32 0
Oct1 HelaGSE14283 144172009 144172047 38 0
Oct1 HelaGSE14283 144176144 144176171 27 0
Oct4 hESGSE21916 144109177 144109872 695 0
PHF8 HeLaGSE20725 144040703 144041505 802 0
PolII HeLaGSE12783 144040468 144041781 1313 0
RARA MCF7GSE15244 144107478 144108102 624 0
TFAP2C MCF7GSE21234 143997255 143997696 441 0
USF2 HepG2E 144107058 144109595 2537 0
p130 shRbQuiescentGSE19898 144108706 144109537 831 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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