• Gene id: 3689

Gene Summary

• Gene Symbol: ITGB2   Gene   UCSC   Ensembl
• Aliases: CD18, LAD, LCAMB, LFA-1, MAC-1, MF17, MFI7
• Gene name: integrin subunit beta 2
• Alternate names: integrin beta-2, cell surface adhesion glycoprotein (LFA-1/CR3/P150,959 beta subunit precursor), complement component 3 receptor 3 and 4 subunit, complement receptor C3 beta-subunit, integrin beta chain, beta 2, integrin, beta 2 (complement component 3 recepto,
• Gene location: 21q22.3 (44928814: 44885948)     Exons: 17     NC_000021.9
• Gene summary(Entrez): 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 signalli

SNPs

rs508485

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94621313C>T
NC_000011.9   g.94354479C>T
NM_152431.3   c.*321C>T
NM_152431.2   c.*321C>T|SEQ=[C/T]|GENE=PIWIL4
LOC105369438   105369438

rs7110167

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94587071T>C
NC_000011.9   g.94320237T>C
NM_152431.3   c.738T>C
NM_152431.2   c.738T>C|SEQ=[T/C]|GENE=PIWIL4
LOC105369438   105369438

rs57607909

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94593599G>C
NC_000011.9   g.94326765G>C
NM_152431.3   c.1108G>C
NM_152431.2   c.1108G>C
NP_689644.2   p.Ala370Pro|SEQ=[G/C]|GENE=PIWIL4
LOC105369438   105369438

rs593690

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94604054C>A
NC_000011.10   g.94604054C>T
NC_000011.9   g.94337220C>A
NC_000011.9   g.94337220C>T
NM_152431.3   c.1636C>A
NM_152431.3   c.1636C>T
NM_152431.2   c.1636C>A
NM_152431.2   c.1636C>T
NP_689644.2   p.Leu546Met|SEQ=[C/A/T]|GENE=PIWIL4
L  

Protein Summary

• Protein general information: P05107  
  • Name: Integrin beta 2 (Cell surface adhesion glycoproteins LFA 1/CR3/p150,95 subunit beta) (Complement receptor C3 subunit beta) (CD antigen CD18)
  • Length: 769  
  • Mass: 84782
  • Tissue specificity: Leukocytes (PubMed
• Sequence:

  MLGLRPPLLALVGLLSLGCVLSQECTKFKVSSCRECIESGPGCTWCQKLNFTGPGDPDSIRCDTRPQLLMRGCAA
  DDIMDPTSLAETQEDHNGGQKQLSPQKVTLYLRPGQAAAFNVTFRRAKGYPIDLYYLMDLSYSMLDDLRNVKKLG
  GDLLRALNEITESGRIGFGSFVDKTVLPFVNTHPDKLRNPCPNKEKECQPPFAFRHVLKLTNNSNQFQTEVGKQL
  ISGNLDAPEGGLDAMMQVAACPEEIGWRNVTRLLVFATDDGFHFAGDGKLGAILTPNDGRCHLEDNLYKRSNEFD
  YPSVGQLAHKLAENNIQPIFAVTSRMVKTYEKLTEIIPKSAVGELSEDSSNVVQLIKNAYNKLSSRVFLDHNALP
  DTLKVTYDSFCSNGVTHRNQPRGDCDGVQINVPITFQVKVTATECIQEQSFVIRALGFTDIVTVQVLPQCECRCR
  DQSRDRSLCHGKGFLECGICRCDTGYIGKNCECQTQGRSSQELEGSCRKDNNSIICSGLGDCVCGQCLCHTSDVP
  GKLIYGQYCECDTINCERYNGQVCGGPGRGLCFCGKCRCHPGFEGSACQCERTTEGCLNPRRVECSGRGRCRCNV
  CECHSGYQLPLCQECPGCPSPCGKYISCAECLKFEKGPFGKNCSAACPGLQLSNNPVKGRTCKERDSEGCWVAYT
  LEQQDGMDRYLIYVDESRECVAGPNIAAIVGGTVAGIVLIGILLLVIWKALIHLSDLREYRRFEKEKLKSQWNND
  NPLFKSATTTVMNPKFAES

• Structural information:
  • Protein Domains: (124..36-)
    (/note="VWFA"-)
  • Interpro: IPR033760  IPR015812  IPR015439  IPR014836  IPR037076   IPR012896  IPR036349  IPR002369  IPR032695  IPR016201  IPR036465  
  • Prosite: PS00022 PS01186 PS00243
  • PDB: 1JX3 1L3Y 1YUK 2JF1 2P26 2P28 2V7D 3K6S 3K71 3K72 4NEH 4NEN 5E6R 5E6S 5E6U 5E6V 5E6W 5E6X 5ES4 5XR1 5ZAZ
  • PDBsum: 1JX3 1L3Y 1YUK 2JF1 2P26 2P28 2V7D 3K6S 3K71 3K72 4NEH 4NEN 5E6R 5E6S 5E6U 5E6V 5E6W 5E6X 5ES4 5XR1 5ZAZ
  • DIP: 478
  • STRING: ENSP00000380948
• Other Databases: GeneCards:  ITGB2  Malacards:  ITGB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001540	amyloid-beta binding	ISS	molecular function
GO:0001851	complement component C3b binding	ISS	molecular function
GO:0005178	integrin binding	NAS	molecular function
GO:0005178	integrin binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0038024	cargo receptor activity	ISS	contributes to
GO:2000363	positive regulation of prostaglandin-E synthase activity	NAS	biological process
GO:0098742	cell-cell adhesion via plasma-membrane adhesion molecules	NAS	biological process
GO:1901216	positive regulation of neuron death	NAS	biological process
GO:0006898	receptor-mediated endocytosis	ISS	biological process
GO:0006911	phagocytosis, engulfment	ISS	biological process
GO:0034688	integrin alphaM-beta2 complex	ISS	cellular component
GO:0034689	integrin alphaX-beta2 complex	TAS	cellular component
GO:0099568	cytoplasmic region	IPI	colocalizes with
GO:0009897	external side of plasma membrane	NAS	cellular component
GO:0045963	negative regulation of dopamine metabolic process	NAS	biological process
GO:0001774	microglial cell activation	NAS	biological process
GO:0032930	positive regulation of superoxide anion generation	NAS	biological process
GO:0090314	positive regulation of protein targeting to membrane	NAS	biological process
GO:0097242	amyloid-beta clearance	ISS	biological process
GO:0033627	cell adhesion mediated by integrin	IBA	biological process
GO:0016477	cell migration	IBA	biological process
GO:0007229	integrin-mediated signaling pathway	IBA	biological process
GO:0007160	cell-matrix adhesion	IBA	biological process
GO:0005925	focal adhesion	IBA	cellular component
GO:0005178	integrin binding	IBA	molecular function
GO:0001540	amyloid-beta binding	IBA	molecular function
GO:0007155	cell adhesion	IDA	biological process
GO:0071404	cellular response to low-density lipoprotein particle stimulus	ISS	biological process
GO:1904996	positive regulation of leukocyte adhesion to vascular endothelial cell	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0031623	receptor internalization	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007160	cell-matrix adhesion	IEA	biological process
GO:0007229	integrin-mediated signaling pathway	IEA	biological process
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0007155	cell adhesion	IEA	biological process
GO:0008305	integrin complex	IEA	cellular component
GO:0006909	phagocytosis	IEA	biological process
GO:0007229	integrin-mediated signaling pathway	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0008305	integrin complex	TAS	cellular component
GO:0007229	integrin-mediated signaling pathway	TAS	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0034142	toll-like receptor 4 signaling pathway	TAS	biological process
GO:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0070821	tertiary granule membrane	TAS	cellular component
GO:0101003	ficolin-1-rich granule membrane	TAS	cellular component
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0050776	regulation of immune response	TAS	biological process
GO:0050900	leukocyte migration	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0002523	leukocyte migration involved in inflammatory response	IEA	biological process
GO:0007159	leukocyte cell-cell adhesion	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0030101	natural killer cell activation	IEA	biological process
GO:0043542	endothelial cell migration	IEA	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IEA	biological process
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0045123	cellular extravasation	IEA	biological process
GO:0045429	positive regulation of nitric oxide biosynthetic process	IEA	biological process
GO:0045766	positive regulation of angiogenesis	IEA	biological process
GO:0050839	cell adhesion molecule binding	IEA	molecular function
GO:0098609	cell-cell adhesion	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045121	membrane raft	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0031072	heat shock protein binding	IPI	molecular function
GO:0030593	neutrophil chemotaxis	IDA	biological process
GO:0007159	leukocyte cell-cell adhesion	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0034687	integrin alphaL-beta2 complex	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0050730	regulation of peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0044853	plasma membrane raft	IDA	cellular component
GO:1903561	extracellular vesicle	HDA	cellular component
GO:0030369	ICAM-3 receptor activity	IMP	molecular function
GO:0007160	cell-matrix adhesion	IMP	biological process
GO:1990266	neutrophil migration	IMP	biological process
GO:0008360	regulation of cell shape	NAS	biological process
GO:0007229	integrin-mediated signaling pathway	NAS	biological process
GO:0009986	cell surface	HDA	cellular component
GO:0043113	receptor clustering	IMP	biological process
GO:0050839	cell adhesion molecule binding	IMP	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0008305	integrin complex	NAS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0034113	heterotypic cell-cell adhesion	IMP	biological process
GO:0035987	endodermal cell differentiation	IEP	biological process
GO:0007267	cell-cell signaling	NAS	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0006954	inflammatory response	NAS	biological process
GO:0006915	apoptotic process	NAS	biological process
GO:0007229	integrin-mediated signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0043315	positive regulation of neutrophil degranulation	IGI	biological process
GO:0032930	positive regulation of superoxide anion generation	IGI	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04810	Regulation of actin cytoskeleton
hsa04015	Rap1 signaling pathway
hsa05166	Human T-cell leukemia virus 1 infection
hsa04390	Hippo signaling pathway
hsa05152	Tuberculosis
hsa04145	Phagosome
hsa04514	Cell adhesion molecules
hsa04670	Leukocyte transendothelial migration
hsa04650	Natural killer cell mediated cytotoxicity
hsa05150	Staphylococcus aureus infection
hsa05146	Amoebiasis
hsa05323	Rheumatoid arthritis
hsa04610	Complement and coagulation cascades
hsa05133	Pertussis
hsa05140	Leishmaniasis
hsa05134	Legionellosis
hsa05416	Viral myocarditis
hsa05144	Malaria

Diseases

Associated diseases	References
Leukocyte adhesion deficiency	KEGG:H00099
Leukocyte adhesion deficiency	KEGG:H00099
Vogt-Koyanagi-Harada disease	PMID:21297967
Coronary restenosis	PMID:11703955
leukocyte adhesion deficiency	PMID:20549317
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R