AutismKB 2.0

Annotation Detail for ABHD2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ABHD2 ( HS1-2,LABH2,MGC111112,MGC26249,PHPS1-2 )
Gene Full Name: abhydrolase domain containing 2
Band: 15q26.1
Quick LinksEntrez ID:11057; OMIM: 612196; Uniprot ID:ABHD2_HUMAN; ENSEMBL ID: ENSG00000140526; HGNC ID: 18717
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
37Phosphoserine(CDC2)HMM predict
136N-linkedHMM predict
155Phosphotyrosine(EGFR)HMM predict
285Phosphoserine(IKK)HMM predict
314Phosphotyrosine(INSR)HMM predict
320Phosphotyrosine(INSR)HMM predict
321Phosphotyrosine(Syk)HMM predict
414CysteineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_152924
  • Location:chr15 87432428-87546590
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 87419831 87420150 319 12438
CTCF G2GSE9613 87432058 87432440 382 180
Gata2 K562GSE18868 87418575 87419418 843 13432
P300 T30-glioblastomaGSE21026 87412281 87413131 850 19723
p130 QuiescentGSE19898 87431953 87432716 763 94
p130 SenescentGSE19898 87431732 87432764 1032 181
p130 shRbSenescentGSE19898 87431768 87432267 499 411
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 87473775 87474136 361 0
CTCF CD4GSE12889 87522049 87522329 280 0
CTCF CD4SISSRdata 87473775 87474136 361 0
CTCF CD4SISSRdata 87522049 87522329 280 0
CTCF HelaGSE12889 87473735 87474018 283 0
CTCF G2GSE9613 87473416 87473847 431 0
CTCF G2GSE9613 87515662 87516025 363 0
CTCF G2GSE9613 87521826 87522571 745 0
ER MCF7GSE19013 87459348 87460342 994 0
ER MCF7GSE19013 87463819 87464766 947 0
ER MCF7GSE19013 87473904 87474426 522 0
ER MCF7GSE19013 87483323 87484460 1137 0
ER MCF7GSE19013 87495154 87495527 373 0
ER MCF7GSE19013 87501000 87501819 819 0
FOXA1 MCF7GSE15244 87463376 87464640 1264 0
FOXA1 MCF7GSE15244 87465090 87466049 959 0
FOXA1 MCF7GSE15244 87483476 87484518 1042 0
FOXA1 eGFPGSE10845 87463376 87464640 1264 0
FOXA1 eGFPGSE10845 87465090 87466049 959 0
FOXA1 eGFPGSE10845 87483476 87484518 1042 0
FoxA1 MCF7MACSdata 87459922 87460098 176 0
FoxA1 MCF7MACSdata 87464348 87464567 219 0
FoxA1 MCF7MACSdata 87465522 87465965 443 0
FoxA1 MCF7MACSdata 87483609 87483943 334 0
H3K4me3 colorectalcancer 87433544 87433795 251 0
H3ac HepG2E 87434792 87435392 600 0
KLF4 hESGSE17917 87522406 87522776 370 0
LIN9 G0GSE7516 87432240 87432730 490 0
Myc K562GSE19551 87515745 87516082 337 0
NFkBII GM12878GSE19485 87523541 87525129 1588 0
Oct1 HelaGSE14283 87496545 87496577 32 0
P300 T0-glioblastomaGSE21026 87487803 87488762 959 0
RARA MCF7GSE15244 87509042 87509373 331 0
Rb QuiescentGSE19898 87432277 87432956 679 0
Rb SenescentGSE19898 87432284 87432843 559 0
Rb shRbQuiescentGSE19898 87432557 87432793 236 0
TAFII hESGSE17917 87521990 87522349 359 0
TFAP2C MCF7GSE21234 87465504 87466030 526 0
hScc1 BcellGSE12603 87432691 87433192 501 0
hScc1 BcellGSE12603 87473526 87473847 321 0
hScc1 BcellGSE12603 87515662 87516025 363 0
hScc1 BcellGSE12603 87521859 87522772 913 0
hScc1 CdLSGSE12603 87473390 87474128 738 0
hScc1 CdLSGSE12603 87521859 87522465 606 0
hScc1 G2GSE9613 87521552 87522571 1019 0
p130 shRbQuiescentGSE19898 87432206 87432816 610 0
p130 shRbSenescentGSE19898 87432344 87432871 527 0
p63 keratinocytesGSE17611 87465094 87466222 1128 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