AutismKB 2.0

Annotation Detail for SREBF2


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Basic Information Top
Gene Symbol:SREBF2 ( SREBP2,bHLHd2 )
Gene Full Name: sterol regulatory element binding transcription factor 2
Band: 22q13.2
Quick LinksEntrez ID:6721; OMIM: 600481; Uniprot ID:SRBP2_HUMAN; ENSEMBL ID: ENSG00000198911; HGNC ID: 11290
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
840Phosphotyrosine.
1121Phosphoserine (By similarity).
Location(AA) Modifications Resource
432Phosphoserine (MAPK1;MAPK3)Phospho.ELM 6.0
455Phosphoserine (MAPK1;MAPK3)Phospho.ELM 6.0
Location(AA) Modification Resource
60Phosphoserine(IKK)HMM predict
60O-linkedHMM predict
64Phosphoserine(ATM)HMM predict
73Phosphoserine(CK1)HMM predict
91Phosphoserine(IKK)HMM predict
93Phosphothreonine(PKA)HMM predict
101O-linkedHMM predict
101Phosphoserine(CDK)HMM predict
101Phosphoserine(CDC2)HMM predict
103O-linkedHMM predict
106Phosphoserine(CDK)HMM predict
106Phosphoserine(CDC2)HMM predict
117Phosphoserine(CDC2)HMM predict
119O-linkedHMM predict
119O-linkedHMM predict
120O-linkedHMM predict
120Phosphoserine(IKK)HMM predict
124Phosphothreonine(MAPK)HMM predict
124O-linkedHMM predict
124Phosphothreonine(CDC2)HMM predict
128Phosphothreonine(PKA)HMM predict
153O-linkedHMM predict
192Phosphoserine(ATM)HMM predict
192Phosphoserine(IKK)HMM predict
192O-linkedHMM predict
217N-linkedHMM predict
230O-linkedHMM predict
279Phosphothreonine(MAPK)HMM predict
279O-linkedHMM predict
295O-linkedHMM predict
432Phosphoserine(MAPK)HMM predict
438Phosphoserine(IKK)HMM predict
440Phosphoserine(IKK)HMM predict
440Phosphoserine(ATM)HMM predict
445Phosphoserine(ATM)HMM predict
455Phosphoserine(MAPK)HMM predict
455Phosphoserine(IKK)HMM predict
509Phosphoserine(ATM)HMM predict
648Phosphothreonine(PKA)HMM predict
689Phosphoserine(ATM)HMM predict
745Phosphoserine(IKK)HMM predict
776Phosphoserine(IKK)HMM predict
831PhosphoserineHMM predict
879O-linkedHMM predict
914Phosphoserine(CDC2)HMM predict
941Phosphoserine(IKK)HMM predict
957N-linkedHMM predict
959O-linkedHMM predict
994Phosphoserine(ATM)HMM predict
1062Phosphothreonine(PKA)HMM predict
1063Phosphothreonine(PKA)HMM predict
1082Phosphothreonine(PKA)HMM predict
1098Phosphoserine(CDC2)HMM predict
1112Phosphothreonine(PKC)HMM predict
1125CysteineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004599
  • Location:chr22 40559051-40632318
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 40557799 40560066 2267 119
Fos K562GSE19551 40558480 40559272 792 176
P300 T30-glioblastomaGSE21026 40557215 40559936 2721 476
TFAP2C MCF7GSE21234 40558369 40558932 563 401
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 40636302 40637308 1006 4487
CTCF G2GSE9613 40639487 40640148 661 7499
VDR GM10861-UnstimGSE22484 40631105 40635699 4594 1084
hScc1 BcellGSE12603 40633967 40634386 419 1858
hScc1 BcellGSE12603 40635425 40637664 2239 4226
hScc1 BcellGSE12603 40638578 40638953 375 6447
hScc1 BcellGSE12603 40640181 40641124 943 8334
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 40599333 40599517 184 0
CTCF CD4SISSRdata 40599333 40599517 184 0
CTCF G2GSE9613 40558791 40559847 1056 0
FoxA1 MCF7MACSdata 40608955 40609188 233 0
Gata2 K562GSE18868 40571715 40572505 790 0
NFkBII GM15510GSE19485 40558052 40561144 3092 0
PHF8 HeLaGSE20725 40558072 40560387 2315 0
Rb GrowingGSE19898 40616196 40616354 158 0
VDR GM10861-stimGSE22484 40557135 40561366 4231 0
hScc1 BcellGSE12603 40559084 40559847 763 0
hScc1 BcellGSE12603 40583434 40583820 386 0
hScc1 BcellGSE12603 40618631 40619256 625 0
hScc1 BcellGSE12603 40628454 40629236 782 0
hScc1 CdLSGSE12603 40558715 40559919 1204 0
hScc1 CdLSGSE12603 40583469 40583891 422 0
p63 keratinocytesGSE17611 40564719 40565561 842 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-33a hsa-mir-33a 22 21356514
hsa-miR-33a hsa-mir-33a 22 20732877
hsa-miR-33a hsa-mir-33a 22 20466882
hsa-miR-33a hsa-mir-33a 22 20566875
hsa-miR-33a* hsa-mir-33a 22 21356514
hsa-miR-33a* hsa-mir-33a 22 20732877
hsa-miR-33a* hsa-mir-33a 22 20466882
hsa-miR-33a* hsa-mir-33a 22 20566875
hsa-miR-33b hsa-mir-33b 17 20466882
hsa-miR-33b* hsa-mir-33b 17 20466882
No data
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


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