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Aliases for ITGB2 Gene

Aliases for ITGB2 Gene

  • Integrin Subunit Beta 2 2 3 5
  • Integrin, Beta 2 (Complement Component 3 Receptor 3 And 4 Subunit) 2 3
  • Complement Component 3 Receptor 3 And 4 Subunit 2 3
  • CD18 3 4
  • MFI7 3 4
  • Integrin, Beta 2 (Antigen CD18 (P95), Lymphocyte Function-Associated Antigen 1; Macrophage Antigen 1 (Mac-1) Beta Subunit) 2
  • Cell Surface Adhesion Glycoprotein (LFA-1/CR3/P150,959 Beta Subunit Precursor) 3
  • Cell Surface Adhesion Glycoproteins LFA-1/CR3/P150,95 Subunit Beta 4
  • Leukocyte-Associated Antigens CD18/11A, CD18/11B, CD18/11C 3
  • Leukocyte Cell Adhesion Molecule CD18 3
  • Complement Receptor C3 Beta-Subunit 3
  • Complement Receptor C3 Subunit Beta 4
  • Integrin Beta Chain, Beta 2 3
  • CD18 Antigen 4
  • LFA-1 3
  • MAC-1 3
  • LCAMB 3
  • MF17 3
  • LAD 3

External Ids for ITGB2 Gene

Previous HGNC Symbols for ITGB2 Gene

  • CD18
  • MFI7

Previous GeneCards Identifiers for ITGB2 Gene

  • GC21M042815
  • GC21M045162
  • GC21M045130
  • GC21M046305
  • GC21M031679

Summaries for ITGB2 Gene

Entrez Gene Summary for ITGB2 Gene

  • This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

GeneCards Summary for ITGB2 Gene

ITGB2 (Integrin Subunit Beta 2) is a Protein Coding gene. Diseases associated with ITGB2 include Leukocyte Adhesion Deficiency and Leukocyte Adhesion Deficiency, Type Iii. Among its related pathways are HTLV-I infection and Immune response Lectin induced complement pathway. GO annotations related to this gene include protein heterodimerization activity and receptor activity. An important paralog of this gene is ITGB4.

UniProtKB/Swiss-Prot for ITGB2 Gene

  • 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.

Gene Wiki entry for ITGB2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITGB2 Gene

Genomics for ITGB2 Gene

Regulatory Elements for ITGB2 Gene

Enhancers for ITGB2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ITGB2 on UCSC Golden Path with GeneCards custom track

Promoters for ITGB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ITGB2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ITGB2 Gene

Chromosome:
21
Start:
44,885,949 bp from pter
End:
44,931,989 bp from pter
Size:
46,041 bases
Orientation:
Minus strand

Genomic View for ITGB2 Gene

Genes around ITGB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITGB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITGB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITGB2 Gene

Proteins for ITGB2 Gene

  • Protein details for ITGB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05107-ITB2_HUMAN
    Recommended name:
    Integrin beta-2
    Protein Accession:
    P05107
    Secondary Accessions:
    • B3KTS8
    • D3DSM1
    • Q16418
    • Q53HS5
    • Q9UD72

    Protein attributes for ITGB2 Gene

    Size:
    769 amino acids
    Molecular mass:
    84782 Da
    Quaternary structure:
    • 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. Interacts with FLNA (via filamin repeats 4, 9, 12, 17, 19, 21, and 23).
    SequenceCaution:
    • Sequence=BAD96225.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ITGB2 Gene

neXtProt entry for ITGB2 Gene

Proteomics data for ITGB2 Gene at MOPED

Post-translational modifications for ITGB2 Gene

  • 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.
  • Ubiquitination at Lys 362, Lys 379, Lys 462, Lys 479, Lys 561, Lys 658, Lys 744, Lys 755, and Lys 765
  • Glycosylation at Asn 50, Asn 116, Asn 212, Asn 213, Asn 215, Asn 254, Asn 501, and Asn 642
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ITGB2 Gene

Domains & Families for ITGB2 Gene

Suggested Antigen Peptide Sequences for ITGB2 Gene

Graphical View of Domain Structure for InterPro Entry

P05107

UniProtKB/Swiss-Prot:

ITB2_HUMAN :
  • Contains 1 VWFA domain.
  • Belongs to the integrin beta chain family.
Domain:
  • Contains 1 VWFA domain.
Family:
  • Belongs to the integrin beta chain family.
genes like me logo Genes that share domains with ITGB2: view

Function for ITGB2 Gene

Molecular function for ITGB2 Gene

GENATLAS Biochemistry:
integrin,beta 2,cell surface adhesion receptor mediating cell-adhesion to extra cellular matrix or to other cells,through hetero dimerization and connecting to the cytoskeleton and various signaling molecules within cells,expressed in leukocytes,common component of LFA-1,Mac-1 and p150,95 antigens
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for ITGB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030369 ICAM-3 receptor activity IMP 19029120
GO:0050839 cell adhesion molecule binding IMP 19029120
genes like me logo Genes that share ontologies with ITGB2: view
genes like me logo Genes that share phenotypes with ITGB2: view

Human Phenotype Ontology for ITGB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ITGB2 Gene

MGI Knock Outs for ITGB2:

Animal Model Products

miRNA for ITGB2 Gene

miRTarBase miRNAs that target ITGB2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ITGB2 Gene

Localization for ITGB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGB2 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ITGB2 Gene COMPARTMENTS Subcellular localization image for ITGB2 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 2
endoplasmic reticulum 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for ITGB2 Gene

Pathways & Interactions for ITGB2 Gene

genes like me logo Genes that share pathways with ITGB2: view

SIGNOR curated interactions for ITGB2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ITGB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0002523 leukocyte migration involved in inflammatory response IEA --
GO:0006915 apoptotic process NAS 12885943
GO:0006954 inflammatory response NAS 12885943
GO:0007159 leukocyte cell-cell adhesion IDA 12885943
genes like me logo Genes that share ontologies with ITGB2: view

Drugs & Compounds for ITGB2 Gene

(54) Drugs for ITGB2 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Simvastatin Approved Pharma Competitive, Inhibitor, Target, other HMG-CoA reductase inhibitor 499
SAR 1118 Pharma 0

(61) Additional Compounds for ITGB2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ITGB2: view

Transcripts for ITGB2 Gene

Unigene Clusters for ITGB2 Gene

Integrin, beta 2 (complement component 3 receptor 3 and 4 subunit):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ITGB2 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d ^ 11 ^
SP1: - - - - - - - - -
SP2: - - - - - - - - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - - - - -
SP5: - - - - - -
SP6: - - - - - - -
SP7:
SP8: - - - - - - - - - -
SP9: - - - - - - - - -
SP10: - - - - - - - -
SP11: - - - - - - - -
SP12: - - - - - - -
SP13: - - - - - - - -
SP14: - - - -
SP15: - - - - - - - - -
SP16: - - - - - -
SP17: - - - - - - -
SP18: - - - -
SP19: - - - - - - - - - - - - - - - -
SP20: - - -
SP21:
SP22:

ExUns: 12a · 12b · 12c · 12d ^ 13a · 13b · 13c · 13d · 13e ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b · 23c
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - - - - - - -
SP5: - - -
SP6: -
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: -
SP15:
SP16:
SP17:
SP18: -
SP19:
SP20:
SP21:
SP22:

Relevant External Links for ITGB2 Gene

GeneLoc Exon Structure for
ITGB2
ECgene alternative splicing isoforms for
ITGB2

Expression for ITGB2 Gene

mRNA expression in normal human tissues for ITGB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ITGB2 Gene

This gene is overexpressed in Whole Blood (x31.4).

Protein differential expression in normal tissues from HIPED for ITGB2 Gene

This gene is overexpressed in Neutrophil (20.6), Monocytes (10.0), and Nasal epithelium (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ITGB2 Gene



SOURCE GeneReport for Unigene cluster for ITGB2 Gene Hs.375957

genes like me logo Genes that share expression patterns with ITGB2: view

Protein tissue co-expression partners for ITGB2 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for ITGB2 Gene

Orthologs for ITGB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ITGB2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ITGB2 35
  • 83.56 (n)
  • 84 (a)
ITGB2 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ITGB2 35
  • 83.58 (n)
  • 82.6 (a)
ITGB2 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Itgb2 35
  • 80.98 (n)
  • 82.31 (a)
Itgb2 16
Itgb2 36
  • 82 (a)
OneToMany
Itgb2l 36
  • 57 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia ITGB2 35
  • 98.74 (n)
  • 99.48 (a)
ITGB2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itgb2 35
  • 80.65 (n)
  • 81.89 (a)
oppossum
(Monodelphis domestica)
Mammalia ITGB2 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ITGB2 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITGB2 35
  • 67.83 (n)
  • 65.23 (a)
ITGB2 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITGB2 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itgb2 35
  • 59.34 (n)
  • 59.7 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC69035 35
zebrafish
(Danio rerio)
Actinopterygii itgb2 35
  • 55.83 (n)
  • 51.36 (a)
itgb2 36
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta bgrInt-ngr 37
  • 32 (a)
mys 37
  • 39 (a)
mys 36
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pat-3 37
  • 38 (a)
pat-3 36
  • 35 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3595 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.871 36
  • 33 (a)
OneToMany
Species with no ortholog for ITGB2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ITGB2 Gene

ENSEMBL:
Gene Tree for ITGB2 (if available)
TreeFam:
Gene Tree for ITGB2 (if available)

Paralogs for ITGB2 Gene

genes like me logo Genes that share paralogs with ITGB2: view

Variants for ITGB2 Gene

Sequence variations from dbSNP and Humsavar for ITGB2 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs137852615 Leukocyte adhesion deficiency 1 (LAD1), Leukocyte adhesion deficiency 1 (LAD1) 44,903,482(-) CCATC(A/G/T)ACCTG reference, missense
rs137852611 Leukocyte adhesion deficiency 1 (LAD1) 44,903,418(-) GAAGC(C/T)AGGTG reference, missense
rs137852612 Leukocyte adhesion deficiency 1 (LAD1) 44,901,728(-) GCTTC(A/G)GGTCC reference, missense
rs137852614 Leukocyte adhesion deficiency 1 (LAD1) 44,901,700(-) GCTGC(C/T)GTTCG reference, missense
rs137852610 Leukocyte adhesion deficiency 1 (LAD1) 44,901,646(-) GGAGA(A/C)AGAGT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ITGB2 Gene

Variant ID Type Subtype PubMed ID
dgv4775n71 CNV Loss 21882294
dgv4777n71 CNV Loss 21882294
dgv4778n71 CNV Loss 21882294
nsv470907 CNV Gain 18288195
dgv536n27 CNV Gain 19166990
nsv470908 CNV Loss 18288195
nsv459301 CNV Loss 19166990
dgv4779n71 CNV Loss 21882294
nsv516593 CNV Loss 19592680
nsv913974 CNV Loss 21882294
esv2723691 CNV Deletion 23290073
esv2723692 CNV Deletion 23290073
nsv817935 CNV Loss 17921354
nsv459302 CNV Loss 19166990
nsv834110 CNV Loss 17160897
esv2673395 CNV Deletion 23128226
esv1002263 CNV Deletion 20482838
esv2723693 CNV Deletion 23290073
esv1200103 CNV Deletion 17803354
dgv4780n71 CNV Loss 21882294
nsv187072 CNV Insertion 16902084
nsv913981 CNV Loss 21882294
dgv4781n71 CNV Loss 21882294
esv2723696 CNV Deletion 23290073

Variation tolerance for ITGB2 Gene

Residual Variation Intolerance Score: 15.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.32; 41.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITGB2 Gene

Human Gene Mutation Database (HGMD)
ITGB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITGB2 Gene

Disorders for ITGB2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ITGB2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leukocyte adhesion deficiency
  • leukocyte adhesion deficiency, type iii
leukocyte adhesion deficiency, type iii
  • leukocyte adhesion deficiency, type 3
pertussis
  • bordetella infection
idiopathic membranous glomerulonephritis
pustulosis palmaris et plantaris
  • palmoplantar pustulosis
- elite association - COSMIC cancer census association via MalaCards
Search ITGB2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ITB2_HUMAN
  • Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]: LAD1 patients have recurrent bacterial infections and their leukocytes are deficient in a wide range of adhesion-dependent functions. {ECO:0000269 PubMed:1346613, ECO:0000269 PubMed:1347532, ECO:0000269 PubMed:1352501, ECO:0000269 PubMed:1590804, ECO:0000269 PubMed:1694220, ECO:0000269 PubMed:1968911, ECO:0000269 PubMed:20529581, ECO:0000269 PubMed:20549317, ECO:0000269 PubMed:7509236, ECO:0000269 PubMed:7686755, ECO:0000269 PubMed:9884339}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ITGB2 Gene

bacterial,recurrent,severe life-threatening infections,chronic neutrophilia,and impaired wound healing associated with gingivoperiodontitis and lack of pus formation,leukocyte adhesion deficiency

Relevant External Links for ITGB2

Genetic Association Database (GAD)
ITGB2
Human Genome Epidemiology (HuGE) Navigator
ITGB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITGB2
genes like me logo Genes that share disorders with ITGB2: view

Publications for ITGB2 Gene

  1. The ITGB2 immunomodulatory gene (CD18), enterocolitis, and Hirschsprung's disease. (PMID: 18675632) Moore S.W. … Zaahl M.G. (J. Pediatr. Surg. 2008) 3 23 48 67
  2. A systemic network for Chlamydia pneumoniae entry into human cells. (PMID: 20233927) Wang A. … Dean D. (J. Bacteriol. 2010) 3 23
  3. Ligand-engaged urokinase-type plasminogen activator receptor and activation of the CD11b/CD18 integrin inhibit late events of HIV expression in monocytic cells. (PMID: 18941116) Alfano M. … Poli G. (Blood 2009) 3 23
  4. Involvement of beta 2-integrin in ROS-mediated neutrophil apoptosis induced by Entamoeba histolytica. (PMID: 17900957) Sim S. … Shin M.H. (Microbes Infect. 2007) 3 23
  5. Mac-1 promotes FcgammaRIIA-dependent cell spreading and migration on immune complexes. (PMID: 16846215) Xiong Y. … Zhang L. (Biochemistry 2006) 3 23

Products for ITGB2 Gene

Sources for ITGB2 Gene

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