Human Gene ITGB2 (ENST00000652462.1_7) from GENCODE V47lift37
  Description: integrin subunit beta 2, transcript variant 3 (from RefSeq NM_001303238.2)
Gencode Transcript: ENST00000652462.1_7
Gencode Gene: ENSG00000160255.19_19
Transcript (Including UTRs)
   Position: hg19 chr21:46,305,868-46,340,814 Size: 34,947 Total Exon Count: 16 Strand: -
Coding Region
   Position: hg19 chr21:46,306,283-46,330,697 Size: 24,415 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:46,305,868-46,340,814)mRNA (may differ from genome)Protein (769 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ITB2_HUMAN
DESCRIPTION: RecName: Full=Integrin beta-2; AltName: Full=Cell surface adhesion glycoproteins LFA-1/CR3/p150,95 subunit beta; AltName: Full=Complement receptor C3 subunit beta; AltName: CD_antigen=CD18; Flags: Precursor;
FUNCTION: Integrin alpha-L/beta-2 is a receptor for ICAM1, ICAM2, ICAM3 and ICAM4. Integrins alpha-M/beta-2 and alpha-X/beta-2 are receptors for the iC3b fragment of the third complement component and for fibrinogen. Integrin alpha-X/beta-2 recognizes the sequence G-P-R in fibrinogen alpha-chain. Integrin alpha-M/beta-2 recognizes P1 and P2 peptides of fibrinogen gamma chain. Integrin alpha-M/beta-2 is also a receptor for factor X. Integrin alpha- D/beta-2 is a receptor for ICAM3 and VCAM1. Triggers neutrophil transmigration during lung injury through PTK2B/PYK2-mediated activation.
SUBUNIT: Heterodimer of an alpha and a beta subunit. Beta-2 associates with either alpha-L, alpha-M, alpha-X or alpha-D. Interacts with FGR (By similarity). Interacts with COPS5 and RANBP9.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
PTM: Both Ser-745 and Ser-756 become phosphorylated when T-cells are exposed to phorbol esters. Phosphorylation on Thr-758 (but not on Ser-756) allows interaction with 14-3-3 proteins.
DISEASE: Defects in ITGB2 are the cause of leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]. LAD1 patients have recurrent bacterial infections and their leukocytes are deficient in a wide range of adhesion-dependent functions.
SIMILARITY: Belongs to the integrin beta chain family.
SIMILARITY: Contains 1 VWFA domain.
SEQUENCE CAUTION: Sequence=BAD96225.1; Type=Erroneous initiation;
WEB RESOURCE: Name=ITGB2base; Note=ITGB2 mutation db; URL="http://bioinf.uta.fi/ITGB2base/";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ITGB2";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ITGB2
Diseases sorted by gene-association score: leukocyte adhesion deficiency* (1628), leukocyte adhesion deficiency, type iii* (367), pertussis (15), pyoderma (10), mooren's ulcer (8), pyoderma gangrenosum (8), scleritis (8), myocarditis (7), mycosis fungoides (7), coronary restenosis (7), pustulosis palmaris et plantaris (7), epidermolysis bullosa, junctional, with pyloric stenosis (6), periodontitis 1, juvenile (5), rheumatoid arthritis (3), wegener granulomatosis (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -20.5082-0.250 Picture PostScript Text
3' UTR -123.70415-0.298 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015812 - Integrin_bsu
IPR015439 - Integrin_bsu-2
IPR014836 - Integrin_bsu_cyt
IPR002369 - Integrin_bsu_N
IPR012896 - Integrin_bsu_tail
IPR003659 - Plexin-like
IPR016201 - Plexin-like_fold
IPR002035 - VWF_A

Pfam Domains:
PF00362 - Integrin beta chain VWA domain
PF07965 - Integrin beta tail domain
PF08725 - Integrin beta cytoplasmic domain
PF17205 - Integrin plexin domain

SCOP Domains:
69179 - Integrin domains
53300 - vWA-like
69687 - Integrin beta tail domain
103575 - Plexin repeat
57196 - EGF/Laminin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1JX3 - Model 1L3Y - NMR MuPIT 1YUK - X-ray MuPIT 2JF1 - X-ray MuPIT 2P26 - X-ray MuPIT 2P28 - X-ray MuPIT 2V7D - X-ray 3K6S - X-ray MuPIT 3K71 - X-ray MuPIT 3K72 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P05107
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001540 beta-amyloid binding
GO:0001851 complement component C3b binding
GO:0005515 protein binding
GO:0019901 protein kinase binding
GO:0030369 ICAM-3 receptor activity
GO:0031072 heat shock protein binding
GO:0038023 signaling receptor activity
GO:0044877 macromolecular complex binding
GO:0046872 metal ion binding
GO:0046982 protein heterodimerization activity
GO:0050839 cell adhesion molecule binding

Biological Process:
GO:0001774 microglial cell activation
GO:0002523 leukocyte migration involved in inflammatory response
GO:0006909 phagocytosis
GO:0006911 phagocytosis, engulfment
GO:0006915 apoptotic process
GO:0006954 inflammatory response
GO:0007155 cell adhesion
GO:0007159 leukocyte cell-cell adhesion
GO:0007160 cell-matrix adhesion
GO:0007229 integrin-mediated signaling pathway
GO:0007267 cell-cell signaling
GO:0007568 aging
GO:0008360 regulation of cell shape
GO:0019221 cytokine-mediated signaling pathway
GO:0030101 natural killer cell activation
GO:0030198 extracellular matrix organization
GO:0030593 neutrophil chemotaxis
GO:0031623 receptor internalization
GO:0032930 positive regulation of superoxide anion generation
GO:0034113 heterotypic cell-cell adhesion
GO:0034142 toll-like receptor 4 signaling pathway
GO:0035987 endodermal cell differentiation
GO:0043113 receptor clustering
GO:0043312 neutrophil degranulation
GO:0043315 positive regulation of neutrophil degranulation
GO:0043542 endothelial cell migration
GO:0045123 cellular extravasation
GO:0045429 positive regulation of nitric oxide biosynthetic process
GO:0045766 positive regulation of angiogenesis
GO:0045963 negative regulation of dopamine metabolic process
GO:0050730 regulation of peptidyl-tyrosine phosphorylation
GO:0050776 regulation of immune response
GO:0050900 leukocyte migration
GO:0051092 positive regulation of NF-kappaB transcription factor activity
GO:0071404 cellular response to low-density lipoprotein particle stimulus
GO:0090314 positive regulation of protein targeting to membrane
GO:0097242 beta-amyloid clearance
GO:0098609 cell-cell adhesion
GO:0098742 cell-cell adhesion via plasma-membrane adhesion molecules
GO:1901216 positive regulation of neuron death
GO:1903980 positive regulation of microglial cell activation
GO:1990266 neutrophil migration
GO:2000363 positive regulation of prostaglandin-E synthase activity

Cellular Component:
GO:0005886 plasma membrane
GO:0008305 integrin complex
GO:0009897 external side of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0034687 integrin alphaL-beta2 complex
GO:0034688 integrin alphaM-beta2 complex
GO:0035579 specific granule membrane
GO:0043235 receptor complex
GO:0044853 plasma membrane raft
GO:0045121 membrane raft
GO:0070062 extracellular exosome
GO:0070821 tertiary granule membrane
GO:0101003 ficolin-1-rich granule membrane
GO:1903561 extracellular vesicle
GO:0099568 cytoplasmic region


-  Descriptions from all associated GenBank mRNAs
  BC005861 - Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit), mRNA (cDNA clone MGC:3628 IMAGE:3532902), complete cds.
AK097864 - Homo sapiens cDNA FLJ40545 fis, clone THYMU2001195.
AK097216 - Homo sapiens cDNA FLJ39897 fis, clone SPLEN2016973, highly similar to CELL SURFACE ADHESION GLYCOPROTEINS LFA-1/CR3/P150,95 BETA-SUBUNIT PRECURSOR.
AK303488 - Homo sapiens cDNA FLJ59807 complete cds, highly similar to Integrin beta-2 precursor.
AK128344 - Homo sapiens cDNA FLJ46486 fis, clone THYMU3026532, highly similar to Integrin beta-2 precursor.
M15395 - Human leukocyte adhesion protein (LFA-1/Mac-1/p150,95 family) beta subunit mRNA.
AK222505 - Homo sapiens mRNA for integrin beta chain, beta 2 precursor variant, clone: adKA03436.
AB208909 - Homo sapiens mRNA for integrin beta chain, beta 2 precursor variant protein.
AK095992 - Homo sapiens cDNA FLJ38673 fis, clone HSYRA2000792, highly similar to Integrin beta-2 precursor.
JD046571 - Sequence 27595 from Patent EP1572962.
JD168191 - Sequence 149215 from Patent EP1572962.
JD198732 - Sequence 179756 from Patent EP1572962.
JD320680 - Sequence 301704 from Patent EP1572962.
JD476378 - Sequence 457402 from Patent EP1572962.
L78790 - Homo sapiens integrin-like protein mRNA, complete cds.
Y00057 - Human mRNA for beta-subunit of cell surface adhesion glycoproteins LFA-1, CR3 and p150,95.
DQ892684 - Synthetic construct clone IMAGE:100005314; FLH188850.01X; RZPDo839G0973D integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2) gene, encodes complete protein.
DQ895927 - Synthetic construct Homo sapiens clone IMAGE:100010387; FLH188846.01L; RZPDo839G0963D integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2) gene, encodes complete protein.
KJ897070 - Synthetic construct Homo sapiens clone ccsbBroadEn_06464 ITGB2 gene, encodes complete protein.
KR710020 - Synthetic construct Homo sapiens clone CCSBHm_00008970 ITGB2 (ITGB2) mRNA, encodes complete protein.
KR710021 - Synthetic construct Homo sapiens clone CCSBHm_00008979 ITGB2 (ITGB2) mRNA, encodes complete protein.
KR710022 - Synthetic construct Homo sapiens clone CCSBHm_00008985 ITGB2 (ITGB2) mRNA, encodes complete protein.
EU832617 - Synthetic construct Homo sapiens clone HAIB:100067646; DKFZo008B0231 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) protein (ITGB2) gene, encodes complete protein.
EU832689 - Synthetic construct Homo sapiens clone HAIB:100067718; DKFZo004B0232 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) protein (ITGB2) gene, encodes complete protein.
AB527793 - Synthetic construct DNA, clone: pF1KB5782, Homo sapiens ITGB2 gene for integrin, beta 2, without stop codon, in Flexi system.
CU675169 - Synthetic construct Homo sapiens gateway clone IMAGE:100017810 5' read ITGB2 mRNA.
JD174717 - Sequence 155741 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_LairPathway - Cells and Molecules involved in local acute inflammatory response
h_tcytotoxicPathway - T Cytotoxic Cell Surface Molecules
h_ctlPathway - CTL mediated immune response against target cells
h_granulocytesPathway - Adhesion and Diapedesis of Granulocytes
h_thelperPathway - T Helper Cell Surface Molecules
h_lympathway - Adhesion and Diapedesis of Lymphocytes
h_monocytePathway - Monocyte and its Surface Molecules
h_lymphocytePathway - Adhesion Molecules on Lymphocyte
h_blymphocytePathway - B Lymphocyte Cell Surface Molecules
h_neutrophilPathway - Neutrophil and Its Surface Molecules

Reactome (by CSHL, EBI, and GO)

Protein P05107 (Reactome details) participates in the following event(s):

R-HSA-199050 ICAM1-5 bind Integrin alphaLbeta2 (LFA-1)
R-HSA-202718 Integrin alphaLbeta2 (LFA-1) binds F11R (JAM-A)
R-HSA-202727 Integrin alphaMbeta2 (MAC1) binds JAM3
R-HSA-2559439 CD14:LPS binds CR3
R-HSA-202704 Integrin alphaXbeta2 binds JAM3
R-HSA-216082 Interaction of integrin alphaXbeta2 with fibrin
R-HSA-216069 Interaction of integrin alphaDbeta2 with fibrin
R-HSA-6799350 Exocytosis of specific granule membrane proteins
R-HSA-6798747 Exocytosis of tertiary granule membrane proteins
R-HSA-6800426 Exocytosis of ficolin-rich granule membrane proteins
R-HSA-198933 Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
R-HSA-216083 Integrin cell surface interactions
R-HSA-202733 Cell surface interactions at the vascular wall
R-HSA-166016 Toll Like Receptor 4 (TLR4) Cascade
R-HSA-6785807 Interleukin-4 and 13 signaling
R-HSA-6798695 Neutrophil degranulation
R-HSA-1280218 Adaptive Immune System
R-HSA-1474244 Extracellular matrix organization
R-HSA-109582 Hemostasis
R-HSA-168898 Toll-Like Receptors Cascades
R-HSA-449147 Signaling by Interleukins
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System
R-HSA-1280215 Cytokine Signaling in Immune system

-  Other Names for This Gene
  Alternate Gene Symbols: B3KTS8, CD18, D3DSM1, ITB2_HUMAN, MFI7, NM_001303238, P05107, Q16418, Q53HS5, Q9UD72, uc328uiz.1, uc328uiz.2
UCSC ID: ENST00000652462.1_7
RefSeq Accession: NM_000211.5
Protein: P05107 (aka ITB2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.