Gene Gene information from NCBI Gene database.
Entrez ID 3689
Gene name Integrin subunit beta 2
Gene symbol ITGB2
Synonyms (NCBI Gene)
CD18LADLCAMBLFA-1MAC-1MF17MFI7
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 information provided by dbSNP.
30
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
miRNA miRNA information provided by mirtarbase database.
6
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
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Transcription factor Regulation Reference
HIF1A Activation 15235127
KLF5 Activation 22632819
RUNX1 Unknown 12855590
SP1 Unknown 8670251
SPI1 Activation 9295016
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
94
GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding IBA
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600065 6155 ENSG00000160255
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Leukocytes (PubMed:23775590). Expressed in neutrophils (at protein level) (PubMed:21193407, PubMed:28807980). {ECO:0000269|PubMed:21193407, ECO:0000269|PubMed:23775590, ECO:0000269|PubMed:28807980}.
Sequence
MLGLRPPLLALVGLLSLGCVLSQECTKFKVSSCRECIESGPGCTWCQKLNFTGPGDPDSI
RCDTRPQLLMRGCA
ADDIMDPTSLAETQEDHNGGQKQLSPQKVTLYLRPGQAAAFNVTFR
RAKGYPIDLYYLMDLSYSMLDDLRNVKKLGGDLLRALNEITESGRIGFGSFVDKTVLPFV
NTHPDKLRNPCPNKEKECQPPFAFRHVLKLTNNSNQFQTEVGKQLISGNLDAPEGGLDAM
MQVAACPEEIGWRNVTRLLVFATDDGFHFAGDGKLGAILTPNDGRCHLEDNLYKRSNEFD
YPSVGQLAHKLAENNIQPIFAVTSRMVKTYEKLTEIIPKSAVGELSEDSSNVVQLIKNAY
NKLSSRV
FLDHNALPDTLKVTYDSFCSNGVTHRNQPRGDCDGVQINVPITFQVKVTATEC
IQEQSFVIRALGFTDIVTVQVLPQCECRCRDQSRDRSLCHGKGFLECGICRCDTGYIGKN
CECQTQGRSSQELEGSCRKDNNSIICSGLGDCVCGQCLCHTSDVPGKLIYGQYCECDTIN
CERYNGQVCGGPGRGLCFCGKCRCHPGFEGSACQCERTTEGCLNPRRVECSGRGRCRCNV
CECHSGYQLPLCQECPGCPSPCGKYISCAECLKFEKGPFGKNCSAACPGLQLSNNPVKGR
TCKERDSEGCWVAYTLEQQDGMDRYLIYVDESRECVAGPN
IAAIVGGTVAGIVLIGILLL
VIWKALIHLSDLREYRRFEKEKLKSQWNNDNPLFKSATTTVMNPKFAES
Sequence length 769
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  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
  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 Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
803
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Likely pathogenic rs755834578 RCV005925625
Glioma susceptibility 1 Likely pathogenic; Pathogenic rs201752283 RCV005887806
ITGB2-related disorder Pathogenic; Likely pathogenic rs137852609, rs2517165274 RCV003407313
RCV003404198
Leukocyte adhesion deficiency 1 Pathogenic; Likely pathogenic rs2146499719, rs2146538658, rs483352816, rs483352817, rs483352818, rs483352819, rs483352813, rs483352814, rs483352815, rs201752283, rs774228764, rs1464015799, rs1293268696, rs2146498117, rs2146504324
View all (49 more)
RCV001594430
RCV001374421
RCV000087106
RCV000087109
RCV000087110
RCV000087112
RCV000087120
RCV000087122
RCV000087126
RCV000087127
RCV000087128
RCV001782317
RCV001782318
RCV001823479
RCV001881512
RCV001939446
RCV001942806
RCV001941551
RCV002016726
RCV001958652
RCV002284057
RCV002508351
RCV003064635
RCV002657962
RCV002721693
RCV002785604
RCV002775949
RCV002917481
RCV002979934
RCV000799618
RCV000010067
RCV000010068
RCV000010069
RCV000010070
RCV000010073
RCV000010074
RCV000010075
RCV000705990
RCV000010078
RCV000768241
RCV000010080
RCV003522952
RCV003338144
RCV005104334
RCV003634639
RCV003634534
RCV003634862
RCV003635242
RCV003633013
RCV003634191
RCV003845602
RCV003522981
RCV000761243
RCV000853065
RCV000778919
RCV001226542
RCV000791985
RCV000087118
RCV000087123
RCV001035117
RCV001198593
RCV001213039
RCV001212520
RCV001239067
RCV001880121
RCV001295723
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs9983887 RCV005887804
Cervical cancer Likely benign; Uncertain significance rs373900883, rs199932521 RCV005903180
RCV005912503
Clear cell carcinoma of kidney Likely benign rs372501675 RCV005900164
Leukocyte adhesion deficiency Likely benign; Uncertain significance rs145404701, rs772191268, rs886057115 RCV000277284
RCV000311231
RCV000283195
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acne Vulgaris Associate 31281837
Acquired Immunodeficiency Syndrome Associate 22664113
Acute Coronary Syndrome Stimulate 15171817
Acute Coronary Syndrome Associate 29962384
Adenocarcinoma Associate 32509861
Adenoma Associate 26749005
Allergic Fungal Sinusitis Stimulate 33251550
Alzheimer Disease Stimulate 23186989
Alzheimer Disease Associate 25197660, 33773368, 35954209, 37348871, 38554950
Anemia Sickle Cell Associate 15164377, 15308324, 30630982