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Aliases for ITGB2 Gene

Aliases for ITGB2 Gene

  • Integrin, Beta 2 (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
  • Macrophage Antigen 6
  • Beta Polypeptide) 6
  • Integrin Beta-2 3
  • CD18 Antigen 4
  • MAC-1 3
  • LFA-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, Beta 2 (Complement Component 3 Receptor 3 And 4 Subunit)) is a Protein Coding gene. Diseases associated with ITGB2 include leukocyte adhesion deficiency and gastrointestinal carcinoma. Among its related pathways are Ras signaling pathway and Regulation of actin cytoskeleton. GO annotations related to this gene include protein kinase binding and glycoprotein binding. 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

Genomic Location for ITGB2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.
    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 Lys362, Lys379, Lys462, Lys479, Lys561, Lys658, Lys744, Lys755, and Lys765
  • Glycosylation at Asn50, Asn116, Asn212, Asn213, Asn215, Asn254, Asn501, and Asn642
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ITGB2 Gene

Domains for ITGB2 Gene

Gene Families for ITGB2 Gene

HGNC:

Suggested Antigen Peptide Sequences for ITGB2 Gene

Graphical View of Domain Structure for InterPro Entry

P05107

UniProtKB/Swiss-Prot:

ITB2_HUMAN :
  • P05107
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:0001948 glycoprotein binding IPI 16831868
GO:0004872 receptor activity --
GO:0005515 protein binding IPI 17321526
GO:0019901 protein kinase binding IPI 12885943
GO:0030369 ICAM-3 receptor activity IMP 19029120
genes like me logo Genes that share ontologies with ITGB2: view
genes like me logo Genes that share phenotypes with ITGB2: view

Animal Models for ITGB2 Gene

MGI Knock Outs for ITGB2:

miRNA for ITGB2 Gene

miRTarBase miRNAs that target ITGB2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
plasma membrane 5
cytoskeleton 2
cytosol 2
extracellular 2
endoplasmic reticulum 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ITGB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008305 integrin complex NAS 12885943
GO:0009986 cell surface IDA 19029120
GO:0016020 membrane IDA 19946888
GO:0031982 vesicle IDA 24769233
genes like me logo Genes that share ontologies with ITGB2: view

Pathways for ITGB2 Gene

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

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:0007155 cell adhesion TAS 1694220
genes like me logo Genes that share ontologies with ITGB2: view

Compounds for ITGB2 Gene

(1) HMDB Compounds for ITGB2 Gene

Compound Synonyms Cas Number PubMed IDs
Simvastatin
  • (+)-Simvastatin
79902-63-9

(1) Drugbank Compounds for ITGB2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Simvastatin
  • Simvastatin [Usan:Ban:Inn]
79902-63-9 target other

(114) Novoseek inferred chemical compound relationships for ITGB2 Gene

Compound -log(P) Hits PubMed IDs
fmlp 75.1 35
lfa703 70.8 1
n-formylmethionyl-leucylphenylalanine 62.9 11
phorbol 59.4 5
slex 58.8 10
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 (31.4).

Integrated Proteomics: protein expression 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 expressions with ITGB2: view

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
chimpanzee
(Pan troglodytes)
Mammalia ITGB2 35
  • 98.74 (n)
  • 99.48 (a)
ITGB2 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia ITGB2 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ITGB2 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itgb2 35
  • 80.65 (n)
  • 81.89 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia MGC69035 35
tropical clawed frog
(Silurana tropicalis)
Amphibia itgb2 35
  • 59.34 (n)
  • 59.7 (a)
zebrafish
(Danio rerio)
Actinopterygii itgb2 35
  • 55.83 (n)
  • 51.36 (a)
itgb2 36
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mys 36
  • 34 (a)
OneToMany
bgrInt-ngr 37
  • 32 (a)
mys 37
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea pat-3 36
  • 35 (a)
OneToMany
pat-3 37
  • 38 (a)
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 MAF
rs684 -- 44,886,246(-) TTTCC(A/G)CCCTC utr-variant-3-prime
rs6570 -- 44,886,197(-) TCGTC(C/G)GGGGG utr-variant-3-prime
rs170963 -- 44,898,231(-) CCCCA(A/G)GGAGG intron-variant
rs173098 -- 44,887,636(-) GGGCA(C/T)GGGGA intron-variant
rs180318 -- 44,887,580(-) GGTGC(A/G)GATCA intron-variant

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

Relevant External Links for ITGB2 Gene

HapMap Linkage Disequilibrium report
ITGB2
Human Gene Mutation Database (HGMD)
ITGB2
Locus Specific Mutation Databases (LSDB)
ITGB2

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

Disorders for ITGB2 Gene

(1) OMIM Diseases for ITGB2 Gene (600065)

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.

(1) University of Copenhagen DISEASES for ITGB2 Gene

(95) Novoseek inferred disease relationships for ITGB2 Gene

Disease -log(P) Hits PubMed IDs
leukocyte adhesion deficiency, type i 74.2 3
leukocyte adhesion deficiency syndrome 68.6 3
inflammation 62.4 38
necrosis 50.6 32
psoriasis 32.7 8

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

Publications for ITGB2 Gene

  1. Familial genetic defect in a case of leukocyte adhesion deficiency. (PMID: 7509236) Ohashi Y. … Konno T. (Hum. Mutat. 1993) 3 4 23
  2. Molecular basis for a severe case of leukocyte adhesion deficiency. (PMID: 1352501) Corbi A. … Sanchez-Madrid F. (Eur. J. Immunol. 1992) 3 4 23
  3. A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1. (PMID: 9884339) Hogg N. … Klein N. (J. Clin. Invest. 1999) 3 4 23
  4. Genetic cause of leukocyte adhesion molecule deficiency. Abnormal splicing and a missense mutation in a conserved region of CD18 impair cell surface expression of beta 2 integrins. (PMID: 1346613) Nelson C. … Arnaout M.A. (J. Biol. Chem. 1992) 3 4 23
  5. A prospective evaluation of the CD14 and CD18 gene polymorphisms and risk of stroke. (PMID: 11935032) Zee R.Y. … Ridker P.M. (Stroke 2002) 3 23 48

Products for ITGB2 Gene

  • Addgene plasmids for ITGB2

Sources for ITGB2 Gene

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