AutismKB 2.0

Annotation Detail for PHKA2


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Basic Information Top
Gene Symbol:PHKA2 ( GSD9A,MGC133071,PHK,PYK,PYKL,XLG,XLG2 )
Gene Full Name: phosphorylase kinase, alpha 2 (liver)
Band: Xp22.13
Quick LinksEntrez ID:5256; OMIM: 300798; Uniprot ID:KPB2_HUMAN; ENSEMBL ID: ENSG00000044446; HGNC ID: 8926
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
729Phosphoserine.
735Phosphoserine.
1015Phosphoserine.
1048Phosphothreonine (By similarity).
Location(AA) Modifications Resource
735Phosphoserine.Swiss-Prot 53.0
735PhosphoserinePhospho.ELM 6.0
1048Phosphothreonine (By similarity).Swiss-Prot 53.0
1232S-farnesyl cysteine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
5Phosphoserine(IKK)HMM predict
198N-linkedHMM predict
251Phosphothreonine(PKC)HMM predict
277N-linkedHMM predict
281N-linkedHMM predict
301Phosphotyrosine(Syk)HMM predict
303Phosphothreonine(MAPK)HMM predict
303Phosphothreonine(CDK)HMM predict
313SulfotyrosineHMM predict
373Phosphotyrosine(Abl)HMM predict
384Phosphotyrosine(Jak)HMM predict
384Phosphotyrosine(Syk)HMM predict
431Phosphoserine(PKG)HMM predict
493N-linkedHMM predict
531Phosphotyrosine(Jak)HMM predict
531Phosphotyrosine(Syk)HMM predict
585Phosphothreonine(PKC)HMM predict
603N-linkedHMM predict
637Phosphoserine(ATM)HMM predict
735Phosphoserine(CDC2)HMM predict
794N-linkedHMM predict
945N-linkedHMM predict
975O-linkedHMM predict
976O-linkedHMM predict
977O-linkedHMM predict
978Phosphoserine(CK1)HMM predict
979Phosphoserine(IKK)HMM predict
979Phosphoserine(CDC2)HMM predict
1011Phosphothreonine(PKC)HMM predict
1015Phosphoserine(CAMK2)HMM predict
1015Phosphoserine(PKG)HMM predict
1015Phosphoserine(PKC)HMM predict
1015Phosphoserine(PKB)HMM predict
1015Phosphoserine(PKA)HMM predict
1028O-linkedHMM predict
1033Phosphoserine(CK1)HMM predict
1040O-linkedHMM predict
1040Phosphoserine(IKK)HMM predict
1041O-linkedHMM predict
1041Phosphothreonine(CDK)HMM predict
1043O-linkedHMM predict
1043O-linkedHMM predict
1043Phosphoserine(CK1)HMM predict
1044Phosphoserine(CDC2)HMM predict
1044Phosphoserine(IKK)HMM predict
1044Phosphoserine(CDK)HMM predict
1046O-linkedHMM predict
1048O-linkedHMM predict
1051O-linkedHMM predict
1053Phosphoserine(ATM)HMM predict
1053Phosphoserine(CK1)HMM predict
1103Phosphotyrosine(Jak)HMM predict
1103Phosphotyrosine(INSR)HMM predict
1108O-linkedHMM predict
1209Phosphotyrosine(SRC)HMM predict
1230Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000292
  • Location:chrX 18820799-18912096
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 18912923 18913125 202 928
CTCF CD4SISSRdata 18912923 18913125 202 928
CTCF G2GSE9613 18912436 18913060 624 652
ETS1 JurkatGSE17954 18912491 18913392 901 845
GABP k562GSE8489 18913093 18914619 1526 1760
H3ac HepG2E 18913238 18913441 203 1243
Oct1 HelaGSE14283 18914015 18914061 46 1942
PHF8 HeLaGSE20725 18911734 18913494 1760 518
RNAII Tamoxifen-MCF7GSE14664 18914013 18914071 58 1946
hScc1 BcellGSE12603 18912105 18913132 1027 522
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 18814558 18814929 371 6056
NRSF JurkatGSE13047 18812856 18813570 714 7587
NRSF-mono JurkatQuESTdata 18812869 18813723 854 7504
NRSF-poly JurkatQuESTdata 18812865 18813417 552 7659
Oct1 H2O2-HelaGSE14283 18814715 18814745 30 6070
Oct1 HelaGSE14283 18806733 18806791 58 14038
TFAP2C MCF7GSE21234 18815572 18815883 311 5072
USF1 HepG2E 18805266 18805632 366 15351
hScc1 BcellGSE12603 18814247 18815052 805 6150
hScc1 CdLSGSE12603 18813780 18815090 1310 6365
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 18827988 18828137 149 0
CTCF CD4GSE12889 18860173 18860292 119 0
CTCF CD4SISSRdata 18827988 18828137 149 0
CTCF CD4SISSRdata 18860173 18860292 119 0
CTCF G2GSE9613 18827900 18828191 291 0
ER E2-MCF7GSE14664 18911485 18911520 35 0
ER Fulvestrant-MCF7GSE14664 18911485 18911521 36 0
H3K4me3 colorectalcancer 18911505 18911950 445 0
H3ac HepG2E 18911021 18911920 899 0
NRSF-mono JurkatQuESTdata 18822183 18822611 428 0
Oct1 HelaGSE14283 18855072 18855105 33 0
Oct1 HelaGSE14283 18896178 18896213 35 0
Oct1 HelaGSE14283 18911473 18911516 43 0
SRF GMOGSE8489 18902892 18903153 261 0
SRF HepG2GSE8489 18902892 18903153 261 0
TFAP2C MCF7GSE21234 18828012 18828475 463 0
TFAP2C MCF7GSE21234 18855512 18855864 352 0
USF1 HepG2E 18867836 18867975 139 0
hScc1 BcellGSE12603 18831597 18832076 479 0
hScc1 CdLSGSE12603 18827788 18828429 641 0
hScc1 G2GSE9613 18827825 18828263 438 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
27418 mRNA PHKA2 chrX 18676839 18681000 84 mRNA PHKA2 chrX 18670535 18761833Sense/Antisense (SA) pairs

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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