AutismKB 2.0

Annotation Detail for SHOX2


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Basic Information Top
Gene Symbol:SHOX2 ( OG12,OG12X,SHOT )
Gene Full Name: short stature homeobox 2
Band: 3q25.32
Quick LinksEntrez ID:6474; OMIM: 602504; Uniprot ID:SHOX2_HUMAN; ENSEMBL ID: ENSG00000168779; HGNC ID: 10854
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
326OAR.
Location(AA) Modifications Resource
Location(AA) Modification Resource
57MethylarginineHMM predict
92Phosphoserine(CDC2)HMM predict
110Phosphoserine(CDC2)HMM predict
114Phosphothreonine(PKC)HMM predict
143Phosphoserine(PKG)HMM predict
146N-linkedHMM predict
164Phosphotyrosine(EGFR)HMM predict
174Phosphoserine(ATM)HMM predict
239N-linkedHMM predict
241O-linkedHMM predict
293O-linkedHMM predict
295O-linkedHMM predict
295O-linkedHMM predict
298O-linkedHMM predict
308O-linkedHMM predict
309O-linkedHMM predict
309Phosphothreonine(PKC)HMM predict
310Phosphoserine(IKK)HMM predict
312N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006884
  • Location:chr3 159296494-159306629
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 159306804 159308268 1464 907
hScc1 BcellGSE12603 159307358 159307673 315 886
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 159303788 159304291 503 0
CTCF G2GSE9613 159305646 159306483 837 0
H3K27me3 colorectalcancer 159302350 159305979 3629 0
VDR GM10861-stimGSE22484 159303038 159308624 5586 0
hScc1 BcellGSE12603 159305613 159306519 906 0
p130 shRbSenescentGSE19898 159305846 159306091 245 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