AutismKB 2.0

Annotation Detail for CSF2RB


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Basic Information Top
Gene Symbol:CSF2RB ( CD131,CDw131,IL3RB,IL5RB )
Gene Full Name: colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
Band: 22q12.3
Quick LinksEntrez ID:1439; OMIM: 138981; Uniprot ID:IL3RB_HUMAN; ENSEMBL ID: ENSG00000100368; HGNC ID: 2436
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
58N-linked (GlcNAc...).
191N-linked (GlcNAc...).
346N-linked (GlcNAc...) (Potential).
429WSXWS motif.
482Box 1 motif.
766Phosphotyrosine (By similarity).
Location(AA) Modifications Resource
58N-linked (GlcNAc...).Swiss-Prot 53.0
191N-linked (GlcNAc...).Swiss-Prot 53.0
346N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
593Phosphotyrosine (JAK2)Phospho.ELM 6.0
601Phosphoserine (PKA
628Phosphotyrosine (JAK2)Phospho.ELM 6.0
711PhosphotyrosinePhospho.ELM 6.0
766PhosphotyrosinePhospho.ELM 6.0
822PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
9Phosphoserine(MAPK)HMM predict
32Phosphothreonine(PKC)HMM predict
58N-linkedHMM predict
86S-palmitoylHMM predict
110SulfotyrosineHMM predict
191N-linkedHMM predict
346N-linkedHMM predict
416Phosphothreonine(PKC)HMM predict
416Phosphothreonine(PKA)HMM predict
417Phosphoserine(PKG)HMM predict
425C-linkedHMM predict
428C-linkedHMM predict
480N-linkedHMM predict
489N-linkedHMM predict
505Phosphoserine(IKK)HMM predict
505O-linkedHMM predict
507O-linkedHMM predict
507PhosphoserineHMM predict
550O-linkedHMM predict
555Phosphothreonine(MAPK)HMM predict
555O-linkedHMM predict
555O-linkedHMM predict
559O-linkedHMM predict
563O-linkedHMM predict
568Phosphoserine(MAPK)HMM predict
568Phosphoserine(ATM)HMM predict
568O-linkedHMM predict
568Phosphoserine(CDC2)HMM predict
577O-linkedHMM predict
579Phosphothreonine(MAPK)HMM predict
579Phosphothreonine(CDK)HMM predict
579Phosphothreonine(CDC2)HMM predict
593Phosphotyrosine(Jak)HMM predict
617O-linkedHMM predict
617Phosphoserine(ATM)HMM predict
620O-linkedHMM predict
628Phosphotyrosine(Jak)HMM predict
659Phosphoserine(PKG)HMM predict
659Phosphoserine(PKA)HMM predict
659Phosphoserine(ATM)HMM predict
691Phosphoserine(CDC2)HMM predict
723Phosphoserine(IKK)HMM predict
726O-linkedHMM predict
729Phosphoserine(IKK)HMM predict
766Phosphotyrosine(EGFR)HMM predict
779Phosphoserine(CDC2)HMM predict
791Phosphoserine(CDC2)HMM predict
804O-linkedHMM predict
804O-linkedHMM predict
804Phosphoserine(IKK)HMM predict
807Phosphoserine(MAPK)HMM predict
807Phosphoserine(CDC2)HMM predict
834Phosphoserine(CDK)HMM predict
837Phosphoserine(CK1)HMM predict
840O-linkedHMM predict
841Phosphoserine(ATM)HMM predict
841Phosphoserine(CDC2)HMM predict
841Phosphoserine(MAPK)HMM predict
841Phosphoserine(CDK)HMM predict
882Phosphotyrosine(Jak)HMM predict
882Phosphotyrosine(Syk)HMM predict
897S-farnesylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000395
  • Location:chr22 35648167-35664762
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NFkBII GM12878GSE19485 35646439 35648251 1812 823
Nanog hESGSE18292 35637570 35638162 592 10302
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 35651527 35652450 923 0
P300 T30-glioblastomaGSE21026 35651468 35652513 1045 0
TFAP2C MCF7GSE21234 35648093 35648848 755 0
hScc1 BcellGSE12603 35649896 35650592 696 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


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