AutismKB 2.0

Annotation Detail for ERGIC2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ERGIC2 ( Erv41,MGC111152,PTX1,cd002 )
Gene Full Name: ERGIC and golgi 2
Band: 12p11.22
Quick LinksEntrez ID:51290; OMIM: 612236; Uniprot ID:ERGI2_HUMAN; ENSEMBL ID: ENSG00000087502; HGNC ID: 30208
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
9Phosphothreonine(PKA)HMM predict
26Phosphotyrosine(EGFR)HMM predict
32O-linkedHMM predict
139Phosphoserine(CK1)HMM predict
152O-linkedHMM predict
164Phosphoserine(CK1)HMM predict
164Phosphoserine(ATM)HMM predict
164Phosphoserine(IKK)HMM predict
271Phosphoserine(CAMK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016570
  • Location:chr12 29384845-29425409
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 29433530 29433911 381 8311
H3ac HepG2E 29434130 29435199 1069 9255
Nanog hESGSE18292 29425378 29425657 279 108
TAF HelaGSE8489 29425148 29426142 994 236
TAF HelaGSE8489 29433977 29435095 1118 9127
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 29424960 29425447 487 0
ER E2-MCF7GSE14664 29403505 29403573 68 0
ETS1 JurkatGSE17954 29424310 29425849 1539 0
FOXA1 MCF7GSE15244 29424684 29425671 987 0
GATA3 MCF7GSE15244 29424756 29425934 1178 0
H3K4me3 colorectalcancer 29424325 29425633 1308 0
H3ac HepG2E 29424011 29425855 1844 0
Oct1 HelaGSE14283 29405742 29405774 32 0
P300 T30-glioblastomaGSE21026 29424367 29425883 1516 0
RARG MCF7GSE15244 29424609 29425599 990 0
Rb GrowingGSE19898 29424971 29425441 470 0
Rb QuiescentGSE19898 29425301 29425459 158 0
Rb SenescentGSE19898 29424865 29425491 626 0
Rb shRbSenescenceGSE19898 29425243 29425497 254 0
p130 QuiescentGSE19898 29425034 29425599 565 0
p130 SenescentGSE19898 29424768 29425750 982 0
p130 shRbQuiescentGSE19898 29424823 29425679 856 0
p130 shRbSenescentGSE19898 29424818 29425733 915 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