ITGB2 (integrin subunit beta 2)

Gene

• Entrez ID: 3689
• Gene name: Integrin subunit beta 2
• Gene symbol: ITGB2
• Synonyms: CD18, LAD, LCAMB, LFA-1, MAC-1, MF17, MFI7
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: 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

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852609	G>A	Pathogenic	Missense variant, coding sequence variant
rs137852610	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs137852611	A>G	Pathogenic	Missense variant, coding sequence variant
rs137852612	C>T	Pathogenic	Missense variant, coding sequence variant
rs137852613	T>C	Pathogenic	Missense variant, coding sequence variant
rs137852614	G>A	Pathogenic	Missense variant, coding sequence variant
rs137852615	C>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs137852616	C>T	Pathogenic	Missense variant, coding sequence variant
rs137852617	A>G	Pathogenic	Missense variant, coding sequence variant
rs137852618	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs148877937	G>A	Pathogenic	Coding sequence variant, stop gained
rs179363873	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs201752283	C>A,T	Pathogenic	Splice donor variant
rs483352813	->G	Pathogenic	Frameshift variant, coding sequence variant
rs483352814	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs483352815	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs483352816	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs483352817	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs483352818	A>G	Pathogenic	Splice donor variant
rs483352819	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs748574145	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs755600323	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs772471533	G>A,T	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs942375725	C>T	Pathogenic	Stop gained, coding sequence variant
rs1064794297	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064794298	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691763	C>T	Pathogenic	Splice donor variant
rs1568879914	->GA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1601284455	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1601302490	G>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016972	hsa-miR-335-5p	Microarray	18185580
MIRT021220	hsa-miR-146a-5p	Microarray	18057241
MIRT028899	hsa-miR-26b-5p	Microarray	19088304
MIRT2018311	hsa-miR-136	CLIP-seq
MIRT2018312	hsa-miR-518a-5p	CLIP-seq
MIRT2018313	hsa-miR-527	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HIF1A	Activation	15235127
KLF5	Activation	22632819
RUNX1	Unknown	12855590
SP1	Unknown	8670251
SPI1	Activation	9295016
SPI1	Unknown	8670251

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	IBA	21873635
GO:0001540	Function	Amyloid-beta binding	ISS
GO:0001774	Process	Microglial cell activation	NAS	18981141
GO:0001851	Function	Complement component C3b binding	ISS
GO:0002523	Process	Leukocyte migration involved in inflammatory response	IEA
GO:0005178	Function	Integrin binding	IBA	21873635
GO:0005178	Function	Integrin binding	NAS	20199584
GO:0005178	Function	Integrin binding	TAS	8020569
GO:0005515	Function	Protein binding	IPI	12208882, 12796480, 16831868, 17321526, 18083624, 19234221, 19828450, 20033057, 20183869, 20679211, 21193407, 25416956, 25910212, 28807980, 31515488, 32296183, 32814053
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	IBA	21873635
GO:0006898	Process	Receptor-mediated endocytosis	ISS
GO:0006911	Process	Phagocytosis, engulfment	ISS
GO:0006915	Process	Apoptotic process	NAS	12885943
GO:0006954	Process	Inflammatory response	NAS	12885943
GO:0007155	Process	Cell adhesion	IDA	19703720
GO:0007159	Process	Leukocyte cell-cell adhesion	IDA	12885943
GO:0007160	Process	Cell-matrix adhesion	IBA	21873635
GO:0007160	Process	Cell-matrix adhesion	IMP	19029120
GO:0007229	Process	Integrin-mediated signaling pathway	IBA	21873635
GO:0007229	Process	Integrin-mediated signaling pathway	IMP	28807980
GO:0007229	Process	Integrin-mediated signaling pathway	NAS	12885943
GO:0007267	Process	Cell-cell signaling	NAS	12885943
GO:0007568	Process	Aging	IEA
GO:0008305	Component	Integrin complex	IBA	21873635
GO:0008305	Component	Integrin complex	NAS	12885943
GO:0008360	Process	Regulation of cell shape	NAS	12885943
GO:0009897	Component	External side of plasma membrane	NAS	20199584
GO:0009986	Component	Cell surface	HDA	23981064
GO:0009986	Component	Cell surface	IBA	21873635
GO:0009986	Component	Cell surface	IDA	19029120, 19234460, 20563599, 23620790
GO:0016020	Component	Membrane	HDA	19946888
GO:0016477	Process	Cell migration	IBA	21873635
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0019901	Function	Protein kinase binding	IPI	12885943
GO:0030101	Process	Natural killer cell activation	IEA
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0030369	Function	ICAM-3 receptor activity	IMP	19029120
GO:0030593	Process	Neutrophil chemotaxis	IDA	12885943
GO:0031072	Function	Heat shock protein binding	IPI	12496435
GO:0031623	Process	Receptor internalization	ISS
GO:0032930	Process	Positive regulation of superoxide anion generation	IGI	21193407
GO:0032930	Process	Positive regulation of superoxide anion generation	NAS	18981141
GO:0033627	Process	Cell adhesion mediated by integrin	IBA	21873635
GO:0034113	Process	Heterotypic cell-cell adhesion	IMP	20563599
GO:0034142	Process	Toll-like receptor 4 signaling pathway	TAS
GO:0034687	Component	Integrin alphaL-beta2 complex	IDA	19029120
GO:0034688	Component	Integrin alphaM-beta2 complex	ISS
GO:0034689	Component	Integrin alphaX-beta2 complex	TAS	8020569
GO:0035579	Component	Specific granule membrane	TAS
GO:0035987	Process	Endodermal cell differentiation	IEP	23154389
GO:0038024	Function	Cargo receptor activity	ISS
GO:0043113	Process	Receptor clustering	IMP	19029120
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0043315	Process	Positive regulation of neutrophil degranulation	IGI	21193407
GO:0043542	Process	Endothelial cell migration	IEA
GO:0044853	Component	Plasma membrane raft	IDA	21193407
GO:0045123	Process	Cellular extravasation	IEA
GO:0045429	Process	Positive regulation of nitric oxide biosynthetic process	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045963	Process	Negative regulation of dopamine metabolic process	NAS	18981141
GO:0046872	Function	Metal ion binding	IEA
GO:0050730	Process	Regulation of peptidyl-tyrosine phosphorylation	IDA	12885943
GO:0050776	Process	Regulation of immune response	TAS
GO:0050839	Function	Cell adhesion molecule binding	IMP	19029120
GO:0050900	Process	Leukocyte migration	TAS
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0071404	Process	Cellular response to low-density lipoprotein particle stimulus	ISS
GO:0090314	Process	Positive regulation of protein targeting to membrane	NAS	18981141
GO:0097242	Process	Amyloid-beta clearance	ISS
GO:0098609	Process	Cell-cell adhesion	ISS	12652296
GO:0098742	Process	Cell-cell adhesion via plasma-membrane adhesion molecules	NAS	20199584
GO:0099568	Component	Cytoplasmic region	IPI	20183869
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS
GO:1901216	Process	Positive regulation of neuron death	NAS	18981141
GO:1903561	Component	Extracellular vesicle	HDA	24769233
GO:1904996	Process	Positive regulation of leukocyte adhesion to vascular endothelial cell	ISS
GO:1990266	Process	Neutrophil migration	IMP	28807980
GO:2000363	Process	Positive regulation of prostaglandin-E synthase activity	NAS	18981141

Other IDs

• MIM: 600065
• HGNC: 6155
• e!Ensembl: ENSG00000160255

Protein

• UniProt ID: P05107
• Protein name: Integrin beta-2 (Cell surface adhesion glycoproteins LFA-1/CR3/p150,95 subunit beta) (Complement receptor C3 subunit beta) (CD antigen CD18)
• Protein function: Integrin ITGAL/ITGB2 is a receptor for ICAM1, ICAM2, ICAM3 and ICAM4. Integrin ITGAL/ITGB2 is also a receptor for the secreted form of ubiquitin-like protein ISG15; the interaction is mediated by ITGAL (PubMed:29100055). Integrins ITGAM/ITGB2 an
• PDB: 1L3Y, 1YUK, 2JF1, 2P26, 2P28, 2V7D, 3K6S, 3K71, 3K72, 4NEH, 4NEN, 5E6R, 5E6S, 5E6U, 5E6V, 5E6W, 5E6X, 5ES4, 5XR1, 5ZAZ, 7P2D, 7USL, 7USM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17205	PSI_integrin	23 → 74	Integrin plexin domain	Domain
  PF00362	Integrin_beta	122 → 367	Integrin beta chain VWA domain	Domain
  PF07965	Integrin_B_tail	622 → 700	Integrin beta tail domain	Domain
  PF08725	Integrin_b_cyt	724 → 767	Integrin beta cytoplasmic domain	Domain

• Sequence:

  MLGLRPPLLALVGLLSLGCVLSQECTKFKVSSCRECIESGPGCTWCQKLNFTGPGDPDSI
  RCDTRPQLLMRGCAADDIMDPTSLAETQEDHNGGQKQLSPQKVTLYLRPGQAAAFNVTFR
  RAKGYPIDLYYLMDLSYSMLDDLRNVKKLGGDLLRALNEITESGRIGFGSFVDKTVLPFV
  NTHPDKLRNPCPNKEKECQPPFAFRHVLKLTNNSNQFQTEVGKQLISGNLDAPEGGLDAM
  MQVAACPEEIGWRNVTRLLVFATDDGFHFAGDGKLGAILTPNDGRCHLEDNLYKRSNEFD
  YPSVGQLAHKLAENNIQPIFAVTSRMVKTYEKLTEIIPKSAVGELSEDSSNVVQLIKNAY
  NKLSSRVFLDHNALPDTLKVTYDSFCSNGVTHRNQPRGDCDGVQINVPITFQVKVTATEC
  IQEQSFVIRALGFTDIVTVQVLPQCECRCRDQSRDRSLCHGKGFLECGICRCDTGYIGKN
  CECQTQGRSSQELEGSCRKDNNSIICSGLGDCVCGQCLCHTSDVPGKLIYGQYCECDTIN
  CERYNGQVCGGPGRGLCFCGKCRCHPGFEGSACQCERTTEGCLNPRRVECSGRGRCRCNV
  CECHSGYQLPLCQECPGCPSPCGKYISCAECLKFEKGPFGKNCSAACPGLQLSNNPVKGR
  TCKERDSEGCWVAYTLEQQDGMDRYLIYVDESRECVAGPNIAAIVGGTVAGIVLIGILLL
  VIWKALIHLSDLREYRRFEKEKLKSQWNNDNPLFKSATTTVMNPKFAES

• Sequence length: 769

Pathways

KEGG:

Rap1 signaling pathway
Phagosome
Hippo signaling pathway
Cell adhesion molecules
Complement and coagulation cascades
Neutrophil extracellular trap formation
Natural killer cell mediated cytotoxicity
Leukocyte transendothelial migration
Regulation of actin cytoskeleton
Pertussis
Legionellosis
Leishmaniasis
Malaria
Amoebiasis
Staphylococcus aureus infection
Tuberculosis
Human T-cell leukemia virus 1 infection
Rheumatoid arthritis
Viral myocarditis

Reactome:

Toll Like Receptor 4 (TLR4) Cascade
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Cell surface interactions at the vascular wall
Integrin cell surface interactions
Interleukin-4 and Interleukin-13 signaling
Neutrophil degranulation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Behcet syndrome	Behcet Syndrome	rs886040969, rs886039866, rs746055479, rs752615209, rs774164456, rs751454741	8712863
Dermatitis	Dermatitis	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	9653089
Leukocyte adhesion deficiency	Leukocyte-Adhesion Deficiency Syndrome, Leukocyte adhesion deficiency type 1, Leukocyte adhesion deficiency type I	rs2134903776, rs121918296, rs121918297, rs121918298, rs121918295, rs28939087, rs28937886, rs137852609, rs137852610, rs137852611, rs137852612, rs387906411, rs137852613, rs137852614, rs137852615, rs137852616, rs137852617, rs137852618, rs775138431, rs1286499329, rs179363873, rs398124345, rs483352816, rs483352817, rs483352818, rs483352819, rs483352813, rs483352814, rs483352815, rs201752283, rs748574145, rs1131691763, rs766512058, rs1568879914, rs772471533, rs1568883795, rs148877937, rs1591028090, rs1591037806, rs1601302490, rs1591038507, rs2085872592, rs2083735130	9653089, 7686755, 7705401, 25703682, 1590804, 17875809, 1347532, 7472832, 7509236, 1352501, 20529581, 1346613, 1968911, 22134107, 9884339, 20549317, 12488604, 1694220, 26639818
Periodontitis	Periodontitis	rs28937571, rs104894211, rs587777534
Tumoral calcinosis	Tumoral calcinosis	rs104894343, rs104894344, rs745655924, rs137853086, rs375879489, rs761396172, rs137853087, rs137853091, rs137853088, rs137853089, rs137853090, rs766750282, rs760830864, rs786205250, rs267606841, rs1555096583, rs1220533001, rs762936774, rs775341386	21335463

Unknown
Disease name	Disease term	dbSNP ID	References
Brain neoplasms	Brain Neoplasms, Malignant neoplasm of brain, Benign neoplasm of brain, unspecified, Brain Tumor, Primary, Recurrent Brain Neoplasm, Primary malignant neoplasm of brain	rs1800720, rs587781720	27935819
Intracranial neoplasm	Neoplasms, Intracranial		27935819
Cardiac valvular disease	Heart valve disease		21335463
Congenital leukocyte adherence deficiency	Congenital leukocyte adherence deficiency
Gingivitis	Gingivitis
Leukocyte disorders	Leukocyte Disorders		2880869, 9653089
Nephrosis	Nephrosis		12845231
Promyelocytic leukemia	Acute Promyelocytic Leukemia		16764927