AutismKB 2.0

Annotation Detail for EHD2


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Basic Information Top
Gene Symbol:EHD2 ( FLJ96617,PAST2 )
Gene Full Name: EH-domain containing 2
Band: 19q13.33
Quick LinksEntrez ID:30846; OMIM: 605890; Uniprot ID:EHD2_HUMAN; ENSEMBL ID: ENSG00000024422; HGNC ID: 3243
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
438Phosphoserine.
458Phosphotyrosine.
468Phosphoserine.
Location(AA) Modifications Resource
438Phosphoserine.Swiss-Prot 53.0
438PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
201Phosphoserine(CK1)HMM predict
404Phosphoserine(CK1)HMM predict
438Phosphoserine(CK2)HMM predict
438PhosphoserineHMM predict
453Phosphotyrosine(EGFR)HMM predict
453Phosphotyrosine(Syk)HMM predict
468Phosphoserine(PKG)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014601
  • Location:chr19 52908501-52938201
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 52908267 52908435 168 151
CTCF JurkatGSE12889 52908286 52908476 190 121
CTCF G2GSE9613 52908237 52908744 507 11
ER Fulvestrant-MCF7GSE14664 52903834 52903868 34 4651
Oct1 HelaGSE14283 52903830 52903873 43 4650
p130 shRbSenescentGSE19898 52908336 52908557 221 55
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 52938699 52939083 384 690
CTCF CD4SISSRdata 52938699 52939083 384 690
CTCF G2GSE9613 52938602 52939065 463 632
Rb GrowingGSE19898 52938334 52938595 261 263
Rb SenescentGSE19898 52938062 52939021 959 340
Rb shRbSenescenceGSE19898 52938642 52938934 292 587
TFAP2C MCF7GSE21234 52937724 52938717 993 19
hScc1 BcellGSE12603 52938528 52939065 537 595
p130 QuiescentGSE19898 52938386 52938784 398 384
p130 SenescentGSE19898 52937899 52938840 941 168
p130 shRbSenescentGSE19898 52938283 52939002 719 441
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 52923942 52924816 874 0
Fos K562GSE19551 52925145 52925736 591 0
GABP GMOGSE8489 52915540 52916351 811 0
Rb GrowingGSE19898 52915036 52915232 196 0
Rb SenescentGSE19898 52914723 52914874 151 0
Rb shRbSenescenceGSE19898 52910219 52910453 234 0
SRF GMOGSE8489 52915540 52916351 811 0
SRF HepG2GSE8489 52915540 52916351 811 0
TFAP2C MCF7GSE21234 52923901 52925112 1211 0
USF1 HepG2E 52914848 52915155 307 0
hScc1 BcellGSE12603 52908237 52908945 708 0
hScc1 BcellGSE12603 52910280 52910490 210 0
hScc1 BcellGSE12603 52911456 52912087 631 0
hScc1 BcellGSE12603 52936252 52936617 365 0
p130 QuiescentGSE19898 52915792 52916147 355 0
p130 shRbQuiescentGSE19898 52914702 52915404 702 0
p130 shRbQuiescentGSE19898 52937879 52938300 421 0
p63 keratinocytesGSE17611 52913728 52914731 1003 0
p63 keratinocytesGSE17611 52920485 52922056 1571 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