AutismKB 2.0

Annotation Detail for EHMT2


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Basic Information Top
Gene Symbol:EHMT2 ( BAT8,C6orf30,DKFZp686H08213,FLJ35547,G9A,KMT1C,NG36 )
Gene Full Name: euchromatic histone-lysine N-methyltransferase 2
Band: 6p21.33
Quick LinksEntrez ID:10919; OMIM: 604599; Uniprot ID:EHMT2_HUMAN; ENSEMBL ID: ENSG00000204371; HGNC ID: 14129
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
140Phosphoserine.
173Phosphoserine.
185N6,N6,N6-trimethyllysine; by EHMT2;
185N6,N6-dimethyllysine; by EHMT2;
232Phosphoserine.
246Phosphoserine.
555Phosphothreonine (By similarity).
569Phosphoserine.
1210Phosphothreonine.
Location(AA) Modifications Resource
246Phosphoserine.Swiss-Prot 53.0
555Phosphothreonine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
44Phosphothreonine(CDC2)HMM predict
44Phosphothreonine(MAPK)HMM predict
55O-linkedHMM predict
65O-linkedHMM predict
66Phosphoserine(IKK)HMM predict
66Phosphoserine(CDC2)HMM predict
66O-linkedHMM predict
66Phosphoserine(MAPK)HMM predict
66O-linkedHMM predict
69O-linkedHMM predict
69Phosphoserine(IKK)HMM predict
115Phosphoserine(IKK)HMM predict
118O-linkedHMM predict
119Phosphoserine(ATM)HMM predict
119Phosphoserine(CDC2)HMM predict
121Phosphoserine(CK1)HMM predict
146Phosphoserine(PKA)HMM predict
165O-linkedHMM predict
173Phosphoserine(CDK)HMM predict
173Phosphoserine(IKK)HMM predict
173Phosphoserine(MAPK)HMM predict
173O-linkedHMM predict
173Phosphoserine(CDC2)HMM predict
186Phosphothreonine(PKC)HMM predict
246Phosphoserine(PKG)HMM predict
285Phosphoserine(CK1)HMM predict
287Phosphoserine(CK1)HMM predict
289Phosphoserine(CK1)HMM predict
299Phosphoserine(CK2)HMM predict
299Phosphoserine(CK2)HMM predict
327Phosphoserine(CK1)HMM predict
327Phosphoserine(IKK)HMM predict
329N-linkedHMM predict
334Phosphoserine(CK1)HMM predict
334Phosphoserine(ATM)HMM predict
378O-linkedHMM predict
379Phosphoserine(ATM)HMM predict
384Phosphotyrosine(EGFR)HMM predict
384Phosphotyrosine(INSR)HMM predict
384Phosphotyrosine(SRC)HMM predict
384Phosphotyrosine(Syk)HMM predict
401Phosphoserine(ATM)HMM predict
409N-linkedHMM predict
412Phosphoserine(CK1)HMM predict
413Phosphoserine(CK1)HMM predict
560O-linkedHMM predict
560O-linkedHMM predict
569Phosphoserine(ATM)HMM predict
579Phosphoserine(IKK)HMM predict
579Phosphoserine(ATM)HMM predict
586MethylarginineHMM predict
657Phosphoserine(ATM)HMM predict
684Phosphoserine(IKK)HMM predict
687Phosphothreonine(CDK)HMM predict
687Phosphothreonine(MAPK)HMM predict
720Phosphothreonine(MAPK)HMM predict
745Phosphotyrosine(Jak)HMM predict
826O-linkedHMM predict
891Phosphothreonine(CDK)HMM predict
891Phosphothreonine(MAPK)HMM predict
891Phosphothreonine(CDC2)HMM predict
952Phosphotyrosine(INSR)HMM predict
967N-linkedHMM predict
1196ProlineHMM predict
1200ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006709
  • Location:chr6 31955517-31973442
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 31973049 31974830 1781 497
H3K4me3 colorectalcancer 31974020 31974333 313 734
H3ac HepG2E 31973597 31974333 736 523
USF1 HepG2E 31973491 31974477 986 542
USF2 HepG2E 31973491 31974410 919 508
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 31964601 31964833 232 0
CTCF CD4SISSRdata 31964601 31964833 232 0
CTCF G2GSE9613 31956922 31957325 403 0
CTCF G2GSE9613 31958219 31958752 533 0
CTCF G2GSE9613 31959719 31960336 617 0
CTCF G2GSE9613 31962183 31962847 664 0
CTCF G2GSE9613 31963930 31965341 1411 0
CTCF G2GSE9613 31968028 31968391 363 0
CTCF G2GSE9613 31972602 31973623 1021 0
Oct1 HelaGSE14283 31963605 31963644 39 0
hScc1 BcellGSE12603 31964504 31965048 544 0
hScc1 BcellGSE12603 31972800 31973491 691 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
No data
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
22436 mRNA chr6 31953563 31959960 592 mRNA BAT8 chr6 31955517 31973443Sense/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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