AutismKB 2.0

Annotation Detail for CHRNA2


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Basic Information Top
Gene Symbol:CHRNA2 ( - )
Gene Full Name: cholinergic receptor, nicotinic, alpha 2 (neuronal)
Band: 8p21.2
Quick LinksEntrez ID:1135; OMIM: 118502; Uniprot ID:ACHA2_HUMAN; ENSEMBL ID: ENSG00000120903; HGNC ID: 1956
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
79N-linked (GlcNAc...) (Potential).
129N-linked (GlcNAc...) (Potential).
235N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
79N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
129N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
235N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
42Phosphoserine(IKK)HMM predict
42O-linkedHMM predict
43Phosphoserine(CDC2)HMM predict
43O-linkedHMM predict
45Phosphoserine(CDC2)HMM predict
45Phosphoserine(MAPK)HMM predict
45O-linkedHMM predict
47O-linkedHMM predict
47O-linkedHMM predict
79N-linkedHMM predict
129N-linkedHMM predict
161Phosphothreonine(PKA)HMM predict
235N-linkedHMM predict
241N-linkedHMM predict
373S-palmitoylHMM predict
463Phosphoserine(MAPK)HMM predict
488Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000742
  • Location:chr8 27374182-27392674
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
USF1 HepG2E 27397281 27398293 1012 5113
p63 keratinocytesGSE17611 27396078 27397276 1198 4003
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 27379132 27379316 184 0
CTCF CD4SISSRdata 27379132 27379316 184 0
CTCF G2GSE9613 27379322 27379682 360 0
FOXA1 MCF7GSE15244 27376726 27377055 329 0
Nanog hESGSE18292 27389564 27390188 624 0
Oct1 HelaGSE14283 27381034 27381094 60 0
VDR GM10861-stimGSE22484 27373229 27375812 2583 0
hScc1 BcellGSE12603 27376156 27376580 424 0
hScc1 BcellGSE12603 27379212 27379649 437 0
hScc1 CdLSGSE12603 27379177 27379576 399 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