AutismKB 2.0

Annotation Detail for EFHA2


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Basic Information Top
Gene Symbol:EFHA2 ( DKFZp313A0139 )
Gene Full Name: EF-hand domain family, member A2
Band: 8p22
Quick LinksEntrez ID:286097; OMIM: 610633; Uniprot ID:EFHA2_HUMAN; ENSEMBL ID: ENSG00000155970; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
93Phosphoserine(IKK)HMM predict
93Phosphoserine(CDC2)HMM predict
100Phosphoserine(PKA)HMM predict
100Phosphoserine(PKG)HMM predict
292Phosphoserine(CDC2)HMM predict
300Phosphothreonine(CK2)HMM predict
313Phosphothreonine(PKC)HMM predict
317N-linkedHMM predict
318Phosphothreonine(PKA)HMM predict
319Phosphoserine(PKA)HMM predict
403N-linkedHMM predict
510Phosphotyrosine(Syk)HMM predict
512Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_181723
  • Location:chr8 16929118-17024513
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 16928014 16928778 764 723
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 17030726 17030754 28 6227
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 16929893 16930098 205 0
H3ac HepG2E 16929857 16930642 785 0
Nanog ESGSE20650 16986130 16986575 445 0
Nanog hESGSE18292 16986335 16986516 181 0
Oct1 H2O2-HelaGSE14283 16940359 16940389 30 0
Oct1 HelaGSE14283 16940359 16940390 31 0
Oct1 HelaGSE14283 16992240 16992281 41 0
P300 T30-glioblastomaGSE21026 17007871 17008417 546 0
hScc1 CdLSGSE12603 16928705 16929540 835 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