AutismKB 2.0

Annotation Detail for ITGB2


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Basic Information Top
Gene Symbol:ITGB2 ( CD18,LAD,LCAMB,LFA-1,MAC-1,MF17,MFI7 )
Gene Full Name: integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
Band: 21q22.3
Quick LinksEntrez ID:3689; OMIM: 600065; Uniprot ID:ITB2_HUMAN; ENSEMBL ID: ENSG00000160255; HGNC ID: 6155
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
23Pyrrolidone carboxylic acid.
50N-linked (GlcNAc...).
116N-linked (GlcNAc...).
212N-linked (GlcNAc...).
213N-linked (GlcNAc...).
215N-linked (GlcNAc...).
254N-linked (GlcNAc...) (Potential).
399Cell attachment site (Potential).
501N-linked (GlcNAc...) (Potential).
642N-linked (GlcNAc...) (Potential).
745Phosphoserine; by PKC.
756Phosphoserine.
758Phosphothreonine; by PKC; in vitro.
759Phosphothreonine (Potential).
760Phosphothreonine; by PKC/PRKCA; in vitro.
Location(AA) Modifications Resource
23Pyrrolidone carboxylic acid.Swiss-Prot 53.0
50N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
116N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
212N-linked (GlcNAc...).Swiss-Prot 53.0
254N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
501N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
642N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
745Phosphoserine (by PKC).Swiss-Prot 53.0
745Phosphoserine (PKC alpha;PK)Phospho.ELM 6.0
756Phosphoserine (PKC
756Phosphoserine.Swiss-Prot 53.0
758Phosphothreonine; by PKC; in vitro.Swiss-Prot 53.0
758Phosphothreonine (PKC alpha;PK)Phospho.ELM 6.0
759Phosphothreonine (Potential).Swiss-Prot 53.0
759PhosphothreoninePhospho.ELM 6.0
760Phosphothreonine; by PKC/PRKCA; in vitro.Swiss-Prot 53.0
760Phosphothreonine (PKC
Location(AA) Modification Resource
43S-palmitoylHMM predict
50N-linkedHMM predict
83Phosphoserine(IKK)HMM predict
99Phosphoserine(CDK)HMM predict
99Phosphoserine(CDC2)HMM predict
116N-linkedHMM predict
212N-linkedHMM predict
213N-linkedHMM predict
215N-linkedHMM predict
254N-linkedHMM predict
349Phosphoserine(CK1)HMM predict
490Phosphoserine(ATM)HMM predict
564S-palmitoylHMM predict
620Phosphoserine(CDC2)HMM predict
620Phosphoserine(IKK)HMM predict
735Phosphotyrosine(EGFR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000211
  • Location:chr21 45130298-45165302
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 45168860 45169455 595 3855
NFkBII GM10847GSE19485 45164906 45165917 1011 109
hScc1 BcellGSE12603 45170654 45171314 660 5682
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 45126263 45126615 352 3860
H3ac HepG2E 45128872 45130057 1185 834
Rb shRbSenescenceGSE19898 45128701 45128949 248 1474
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 45154526 45159383 4857 0
CTCF CD4GSE12889 45137165 45137518 353 0
CTCF CD4GSE12889 45156059 45156270 211 0
CTCF CD4SISSRdata 45137165 45137518 353 0
CTCF CD4SISSRdata 45156059 45156270 211 0
CTCF JurkatGSE12889 45137078 45137372 294 0
CTCF G2GSE9613 45133114 45133722 608 0
CTCF G2GSE9613 45137009 45137428 419 0
CTCF G2GSE9613 45155748 45156186 438 0
ER MCF7GSE19013 45147573 45148024 451 0
ER MCF7GSE19013 45150006 45150467 461 0
FOXA1 MCF7GSE15244 45161275 45161819 544 0
H3ac HepG2E 45150244 45150432 188 0
RARA MCF7GSE15244 45155712 45155934 222 0
RARG MCF7GSE15244 45161275 45161819 544 0
STAT1 IFNSISSRdata 45136975 45137545 570 0
TFAP2C MCF7GSE21234 45141841 45142590 749 0
TFAP2C MCF7GSE21234 45145655 45146426 771 0
TFAP2C MCF7GSE21234 45149938 45150453 515 0
TFAP2C MCF7GSE21234 45155385 45156872 1487 0
TFAP2C MCF7GSE21234 45158065 45158883 818 0
TFAP2C MCF7GSE21234 45161878 45163397 1519 0
hScc1 BcellGSE12603 45130974 45131450 476 0
hScc1 BcellGSE12603 45132961 45133973 1012 0
hScc1 BcellGSE12603 45136091 45136522 431 0
hScc1 BcellGSE12603 45137009 45137601 592 0
hScc1 BcellGSE12603 45143716 45144284 568 0
hScc1 BcellGSE12603 45147674 45148595 921 0
hScc1 BcellGSE12603 45155934 45156207 273 0
hScc1 BcellGSE12603 45163807 45164236 429 0
hScc1 BcellGSE12603 45164473 45165181 708 0
hScc1 CdLSGSE12603 45136971 45137565 594 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
17043 mRNA chr21 45165393 45174016 185 mRNA ITGB2 chr21 45130333 45173181Sense/Antisense (SA) pairs

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