AutismKB 2.0

Annotation Detail for CSF2RA


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Basic Information Top
Gene Symbol:CSF2RA ( CD116,CDw116,CSF2R,CSF2RAX,CSF2RAY,CSF2RX,CSF2RY,GM-CSF-R-alpha,GMCSFR,GMR,MGC3848,MGC4838 )
Gene Full Name: colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
Band: Xp22.32 and Yp11.3
Quick LinksEntrez ID:1438; OMIM: 306250,425000; Uniprot ID:CSF2R_HUMAN; ENSEMBL ID: ENSG00000198223; HGNC ID: 2435
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
46N-linked (GlcNAc...) (Potential).
54N-linked (GlcNAc...) (Potential).
99N-linked (GlcNAc...) (Potential).
123N-linked (GlcNAc...) (Potential).
135N-linked (GlcNAc...) (Potential).
182N-linked (GlcNAc...) (Potential).
195N-linked (GlcNAc...) (Potential).
223N-linked (GlcNAc...) (Potential).
229N-linked (GlcNAc...) (Potential).
272N-linked (GlcNAc...) (Potential).
305N-linked (GlcNAc...) (Potential).
310WSXWS motif.
363Box 1 motif.
Location(AA) Modifications Resource
46N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
54N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
99N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
123N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
135N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
182N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
195N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
223N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
229N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
272N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
305N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
54N-linkedHMM predict
99N-linkedHMM predict
135N-linkedHMM predict
195N-linkedHMM predict
223N-linkedHMM predict
229N-linkedHMM predict
233S-palmitoylHMM predict
262Phosphothreonine(PKA)HMM predict
305N-linkedHMM predict
389Phosphotyrosine(EGFR)HMM predict
389Phosphotyrosine(INSR)HMM predict
395Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_172247
  • Location:chrY 1361570-1388826
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog ESGSE20650 1379360 1379837 477 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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