AutismKB 2.0

Annotation Detail for SEPT2


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Basic Information Top
Gene Symbol:SEPT2 ( DIFF6,KIAA0158,NEDD5,Pnutl3,hNedd5 )
Gene Full Name: septin 2
Band: 2q37.3
Quick LinksEntrez ID:4735; OMIM: 601506; Uniprot ID:SEPT2_HUMAN; ENSEMBL ID: ENSG00000168385; HGNC ID: 7729
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
17Phosphotyrosine.
190N6-acetyllysine.
211Phosphotyrosine.
218Phosphoserine.
228Phosphothreonine (By similarity).
Location(AA) Modifications Resource
17Phosphotyrosine.Swiss-Prot 53.0
218Phosphoserine.Swiss-Prot 53.0
218PhosphoserinePhospho.ELM 6.0
228Phosphothreonine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
121SulfotyrosineHMM predict
218Phosphoserine(CK1)HMM predict
218Phosphoserine(CK2)HMM predict
218PhosphoserineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001008491
  • Location:chr2 241903395-241942111
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 241902997 241904689 1692 0
ETS1 JurkatGSE17954 241902616 241904852 2236 0
HIF1 HypoHepG2 241903102 241903888 786 0
HIF1 NormHepG2 241903029 241904075 1046 0
P300 T30-glioblastomaGSE21026 241902382 241905365 2983 0
PHF8 HeLaGSE20725 241902565 241904875 2310 0
PHF8 Hs68plusFBSGSE20725 241902239 241905215 2976 0
Rb GrowingGSE19898 241903311 241903529 218 0
Rb GrowingGSE19898 241903670 241903772 102 0
Rb SenescentGSE19898 241903257 241903985 728 0
USF1 HepG2E 241903403 241903888 485 0
USF2 HepG2E 241903403 241904005 602 0
hScc1 BcellGSE12603 241902961 241903937 976 0
p130 QuiescentGSE19898 241903312 241903983 671 0
p130 SenescentGSE19898 241903176 241904416 1240 0
p130 shRbSenescentGSE19898 241903233 241904080 847 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
No data
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
15917 mRNA SEPT2 chr2 241974712 242013429 41 mRNA HDLBP chr2 241888133 241975225Sense/Antisense (SA) pairs

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


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