AutismKB 2.0

Annotation Detail for HEY2


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Basic Information Top
Gene Symbol:HEY2 ( CHF1,GRIDLOCK,GRL,HERP1,HESR2,HRT2,MGC10720,bHLHb32 )
Gene Full Name: hairy/enhancer-of-split related with YRPW motif 2
Band: 6q22.31
Quick LinksEntrez ID:23493; OMIM: 604674; Uniprot ID:HEY2_HUMAN; ENSEMBL ID: ENSG00000135547; HGNC ID: 4881
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
39Phosphoserine.
330YRPW motif.
Location(AA) Modifications Resource
Location(AA) Modification Resource
10Phosphoserine(IKK)HMM predict
12Phosphoserine(CK2)HMM predict
25N-linkedHMM predict
26Phosphotyrosine(INSR)HMM predict
26Phosphotyrosine(Syk)HMM predict
39Phosphoserine(IKK)HMM predict
65N-linkedHMM predict
66N-linkedHMM predict
216O-linkedHMM predict
242O-linkedHMM predict
245Phosphoserine(IKK)HMM predict
277Phosphoserine(IKK)HMM predict
304O-linkedHMM predict
304Phosphoserine(MAPK)HMM predict
308Phosphoserine(ATM)HMM predict
310Phosphoserine(IKK)HMM predict
312O-linkedHMM predict
313Phosphoserine(CK1)HMM predict
314Phosphoserine(CDC2)HMM predict
314Phosphoserine(IKK)HMM predict
318O-linkedHMM predict
319Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012259
  • Location:chr6 126112424-126124106
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 126110564 126111442 878 1422
CTCF G2GSE9613 126111743 126112962 1219 72
FOXA1 MCF7GSE15244 126105191 126105818 627 6920
FoxA1 MCF7MACSdata 126105283 126105559 276 7004
H3K27me3 colorectalcancer 126108090 126108566 476 4097
H3K27me3 colorectalcancer 126109009 126110193 1184 2824
H3K4me3 colorectalcancer 126109154 126109714 560 2991
H3K4me3 colorectalcancer 126111223 126112277 1054 675
Oct1 H2O2-HelaGSE14283 126104267 126104308 41 8137
Oct1 HelaGSE14283 126104267 126104308 41 8137
TFAP2C MCF7GSE21234 126110284 126110624 340 1971
hScc1 BcellGSE12603 126110612 126111267 655 1485
hScc1 BcellGSE12603 126111987 126112817 830 23
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 126132597 126132938 341 8661
CTCF CD4SISSRdata 126132597 126132938 341 8661
CTCF G2GSE9613 126132715 126132898 183 8700
H3ac HepG2E 126132715 126132898 183 8700
TAF HelaGSE8489 126124702 126125019 317 754
hScc1 BcellGSE12603 126132499 126132898 399 8592
hScc1 CdLSGSE12603 126132424 126132898 474 8555
hScc1 G2GSE9613 126131944 126132898 954 8315
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 126122234 126122533 299 0
H3K4me3 colorectalcancer 126112962 126113715 753 0
Myc hESGSE17917 126122318 126122649 331 0
hScc1 BcellGSE12603 126121859 126122609 750 0
hScc1 G2GSE9613 126111930 126113115 1185 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