AutismKB 2.0

Annotation Detail for B3GNT2


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Basic Information Top
Gene Symbol:B3GNT2 ( B3GN-T2,B3GNT,B3GNT-2,B3GNT1,BETA3GNT,BGNT2,BGnT-2 )
Gene Full Name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
Band: 2p15
Quick LinksEntrez ID:10678; OMIM: 605581; Uniprot ID:B3GN2_HUMAN; ENSEMBL ID: ENSG00000170340; HGNC ID: 15629
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
79N-linked (GlcNAc...).
89N-linked (GlcNAc...) (Potential).
127N-linked (GlcNAc...) (Potential).
173N-linked (GlcNAc...) (Potential).
219N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
79N-linked (GlcNAc...).Swiss-Prot 53.0
89N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
127N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
173N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
219N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
32Phosphoserine(CK1)HMM predict
32Phosphoserine(ATM)HMM predict
53Phosphothreonine(CDK)HMM predict
79N-linkedHMM predict
95Phosphotyrosine(INSR)HMM predict
173N-linkedHMM predict
175Phosphothreonine(PKC)HMM predict
290Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006577
  • Location:chr2 62276765-62305367
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 62266427 62266774 347 10165
Pol2 GM12878GSE19551 62275762 62277653 1891 58
TAF k562GSE8489 62271962 62272123 161 4723
USF1 HepG2E 62275266 62275490 224 1388
hScc1 BcellGSE12603 62276057 62277415 1358 30
p130 shRbQuiescentGSE19898 62276226 62276690 464 308
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 62315444 62315679 235 10194
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 62278013 62278173 160 0
CTCF CD4SISSRdata 62278013 62278173 160 0
CTCF G2GSE9613 62276511 62278016 1505 0
Gata2 K562GSE18868 62295826 62296446 620 0
H3K4me2 HCT116GSE10453 62278379 62279073 694 0
PHF8 HeLaGSE20725 62276023 62277688 1665 0
TFAP2C MCF7GSE21234 62295790 62296511 721 0
hScc1 CdLSGSE12603 62277706 62278780 1074 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