AutismKB 2.0

Annotation Detail for SMEK2


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Basic Information Top
Gene Symbol:SMEK2 ( FLFL2,FLJ31474,KIAA1387,PP4R3B,PSY2,smk1 )
Gene Full Name: SMEK homolog 2, suppressor of mek1 (Dictyostelium)
Band: 2p16.1
Quick LinksEntrez ID:57223; OMIM: 610352; Uniprot ID:P4R3B_HUMAN; ENSEMBL ID: ENSG00000138041; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
679Phosphotyrosine.
840Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020463
  • Location:chr2 55629018-55698252
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 55697757 55698787 1030 20
ETS1 JurkatGSE17954 55697885 55700455 2570 918
FOXA1 MCF7GSE15244 55698445 55699540 1095 740
H3K4me3 colorectalcancer 55698372 55699800 1428 834
HIF1 HypoHepG2 55697791 55698928 1137 107
Oct1 H2O2-HelaGSE14283 55706144 55706180 36 7910
P300 T30-glioblastomaGSE21026 55697062 55699974 2912 266
Rb QuiescentGSE19898 55699045 55699306 261 923
Rb SenescentGSE19898 55698035 55698751 716 141
TAF HelaGSE8489 55698587 55699251 664 667
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 55662197 55662337 140 0
CTCF CD4SISSRdata 55662197 55662337 140 0
CTCF G2GSE9613 55662051 55662478 427 0
ER Fulvestrant-MCF7GSE14664 55651029 55651073 44 0
Fos K562GSE19551 55671365 55671944 579 0
H3K4me3 colorectalcancer 55696565 55698089 1524 0
H3ac HepG2E 55696565 55699502 2937 0
Oct1 HelaGSE14283 55651019 55651058 39 0
TAF HelaGSE8489 55696565 55698166 1601 0
TAF k562GSE8489 55694621 55694955 334 0
TAF k562GSE8489 55696565 55699726 3161 0
hScc1 BcellGSE12603 55697757 55698614 857 0
p130 shRbQuiescentGSE19898 55697139 55698818 1679 0
p130 shRbSenescentGSE19898 55697528 55698771 1243 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