AutismKB 2.0

Annotation Detail for BTN2A2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:BTN2A2 ( BT2.2,BTF2,FLJ41908 )
Gene Full Name: butyrophilin, subfamily 2, member A2
Band: 6p22.2
Quick LinksEntrez ID:10385; OMIM: 613591; Uniprot ID:BT2A2_HUMAN; ENSEMBL ID: ENSG00000124508; HGNC ID: 1137
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
50N-linked (GlcNAc...) (Potential).
118N-linked (GlcNAc...) (Potential).
220N-linked (GlcNAc...) (Potential).
226N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
50N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
118N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
220N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
226N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
50N-linkedHMM predict
58Phosphoserine(CDC2)HMM predict
118N-linkedHMM predict
124N-linkedHMM predict
137Phosphotyrosine(EGFR)HMM predict
220N-linkedHMM predict
226N-linkedHMM predict
227N-linkedHMM predict
284S-palmitoylHMM predict
285S-palmitoylHMM predict
348Phosphoserine(CK1)HMM predict
379Phosphoserine(CDK)HMM predict
431PhosphoserineHMM predict
432Phosphoserine(CDC2)HMM predict
432Phosphoserine(CDK)HMM predict
469Phosphotyrosine(INSR)HMM predict
503O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006995
  • Location:chr6 26491332-26503076
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 26490908 26491652 744 53
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 26504071 26504617 546 1268
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 26497344 26497910 566 0
FoxA1 MCF7MACSdata 26496240 26496545 305 0
H3K4me2 HCT116GSE10453 26491118 26492042 924 0
H3K4me3 colorectalcancer 26491619 26491934 315 0
H3ac HepG2E 26491118 26492308 1190 0
H3ac HepG2E 26492892 26493677 785 0
hScc1 BcellGSE12603 26501159 26501619 460 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