AutismKB 2.0

Annotation Detail for BTN2A1


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Basic Information Top
Gene Symbol:BTN2A1 ( BK14H9.1,BT2.1,BTF1,DJ3E1.1,FLJ36567 )
Gene Full Name: butyrophilin, subfamily 2, member A1
Band: 6p22.2
Quick LinksEntrez ID:11120; OMIM: 613590; Uniprot ID:BT2A1_HUMAN; ENSEMBL ID: ENSG00000112763; HGNC ID: 1136
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
46N-linked (GlcNAc...) (Potential).
114N-linked (GlcNAc...).
120N-linked (GlcNAc...).
Location(AA) Modifications Resource
46N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
114N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
120N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
216N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
222N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
46N-linkedHMM predict
54Phosphoserine(CDC2)HMM predict
114N-linkedHMM predict
120N-linkedHMM predict
133Phosphotyrosine(EGFR)HMM predict
222N-linkedHMM predict
223N-linkedHMM predict
368Phosphoserine(CDK)HMM predict
421Phosphoserine(CDC2)HMM predict
458Phosphotyrosine(INSR)HMM predict
466O-linkedHMM predict
471Phosphoserine(ATM)HMM predict
473O-linkedHMM predict
482Phosphoserine(CK1)HMM predict
511Phosphothreonine(MAPK)HMM predict
513O-linkedHMM predict
514O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_078476
  • Location:chr6 26566167-26577843
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 26565499 26565741 242 548
Fos K562GSE19551 26565659 26566457 798 110
H3ac HepG2E 26565156 26567036 1880 72
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 26581843 26582301 458 4229
H3ac HepG2E 26582713 26582931 218 4979
PolII HeLaGSE12783 26581542 26583763 2221 4809
p130 SenescentGSE19898 26581952 26583554 1602 4910
p130 shRbSenescentGSE19898 26582382 26582967 585 4831
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 26567565 26567837 272 0
H3ac HepG2E 26567356 26568799 1443 0
H3ac HepG2E 26569143 26569624 481 0
hScc1 BcellGSE12603 26566752 26567036 284 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