AutismKB 2.0

Annotation Detail for IL2RB


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Basic Information Top
Gene Symbol:IL2RB ( CD122,P70-75 )
Gene Full Name: interleukin 2 receptor, beta
Band: 22q12.3
Quick LinksEntrez ID:3560; OMIM: 146710; Uniprot ID:IL2RB_HUMAN; ENSEMBL ID: ENSG00000100385; HGNC ID: 6009
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
29N-linked (GlcNAc...) (Potential).
43N-linked (GlcNAc...).
71N-linked (GlcNAc...).
149N-linked (GlcNAc...).
224WSXWS motif.
286Box 1 motif.
Location(AA) Modifications Resource
29N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
43N-linked (GlcNAc...).Swiss-Prot 53.0
71N-linked (GlcNAc...).Swiss-Prot 53.0
149N-linked (GlcNAc...).Swiss-Prot 53.0
364PhosphotyrosinePhospho.ELM 6.0
381Phosphotyrosine (Lck)Phospho.ELM 6.0
384Phosphotyrosine (Lck)Phospho.ELM 6.0
387Phosphotyrosine (Lck)Phospho.ELM 6.0
418Phosphotyrosine (Lck)Phospho.ELM 6.0
536Phosphotyrosine (Lck)Phospho.ELM 6.0
Location(AA) Modification Resource
25O-linkedHMM predict
29N-linkedHMM predict
71N-linkedHMM predict
95Phosphoserine(ATM)HMM predict
95Phosphoserine(IKK)HMM predict
100Phosphothreonine(PKC)HMM predict
155Phosphoserine(ATM)HMM predict
185Phosphothreonine(PKC)HMM predict
220C-linkedHMM predict
306Phosphoserine(CDC2)HMM predict
312O-linkedHMM predict
314O-linkedHMM predict
314Phosphoserine(CDC2)HMM predict
348Phosphoserine(IKK)HMM predict
352N-linkedHMM predict
354Phosphoserine(IKK)HMM predict
403O-linkedHMM predict
403O-linkedHMM predict
404O-linkedHMM predict
404Phosphoserine(CDC2)HMM predict
412Phosphoserine(ATM)HMM predict
418Phosphotyrosine(Syk)HMM predict
418Phosphotyrosine(EGFR)HMM predict
418PhosphotyrosineHMM predict
431Phosphoserine(MAPK)HMM predict
439O-linkedHMM predict
439Phosphoserine(CDC2)HMM predict
439Phosphoserine(ATM)HMM predict
442O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000878
  • Location:chr22 35851827-35875907
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
USF1 HepG2E 35887156 35887791 635 11566
VDR GM10861-stimGSE22484 35875164 35876782 1618 66
hScc1 BcellGSE12603 35875905 35876383 478 237
hScc1 BcellGSE12603 35881046 35881230 184 5231
hScc1 BcellGSE12603 35881988 35882271 283 6222
hScc1 BcellGSE12603 35888558 35889175 617 12959
hScc1 BcellGSE12603 35889859 35890351 492 14198
hScc1 CdLSGSE12603 35876021 35876383 362 295
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 35846847 35847111 264 4849
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 35852803 35853082 279 0
Fos K562GSE19551 35852325 35852685 360 0
hScc1 BcellGSE12603 35852660 35853584 924 0
hScc1 BcellGSE12603 35872030 35872893 863 0
p63 keratinocytesGSE17611 35857397 35858126 729 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