ITGB2 (integrin subunit beta 2)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3689
Gene name Gene Name - the full gene name approved by the HGNC.
Integrin subunit beta 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ITGB2
Synonyms (NCBI Gene) Gene synonyms aliases
CD18, LAD, LCAMB, LFA-1, MAC-1, MF17, MFI7
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.3
Summary Summary of gene provided in NCBI Entrez 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 signalli
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600065 6155 ENSG00000160255
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
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
RCDTRPQLLMRGCAADDIMDPTSLAETQEDHNGGQKQLSPQKVTLYLRPGQAAAFNVTFR
RAKGYPIDLYYLMDLSYSMLDDLRNVKKLGGDLLRALNEITESGRIGFGSFVDKTVLPFV
NTHPDKLRNPCPNKEKECQPPFAFRHVLKLTNNSNQFQTEVGKQLISGNLDAPEGGLDAM
MQVAACPEEIGWRNVTRLLVFATDDGFHFAGDGKLGAILTPNDGRCHLEDNLYKRSNEFD
YPSVGQLAHKLAENNIQPIFAVTSRMVKTYEKLTEIIPKSAVGELSEDSSNVVQLIKNAY
NKLSSRVFLDHNALPDTLKVTYDSFCSNGVTHRNQPRGDCDGVQINVPITFQVKVTATEC
IQEQSFVIRALGFTDIVTVQVLPQCECRCRDQSRDRSLCHGKGFLECGICRCDTGYIGKN
CECQTQGRSSQELEGSCRKDNNSIICSGLGDCVCGQCLCHTSDVPGKLIYGQYCECDTIN
CERYNGQVCGGPGRGLCFCGKCRCHPGFEGSACQCERTTEGCLNPRRVECSGRGRCRCNV
CECHSGYQLPLCQECPGCPSPCGKYISCAECLKFEKGPFGKNCSAACPGLQLSNNPVKGR
TCKERDSEGCWVAYTLEQQDGMDRYLIYVDESRECVAGPNIAAIVGGTVAGIVLIGILLL
VIWKALIHLSDLREYRRFEKEKLKSQWNNDNPLFKSATTTVMNPKFAES
Sequence length 769
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Leukocyte adhesion deficiency Leukocyte adhesion deficiency 1 rs1568883795, rs137852613, rs483352819, rs148877937, rs137852614, rs483352813, rs1601302490, rs137852615, rs483352814, rs2083735130, rs137852616, rs483352815, rs137852617, rs201752283, rs137852618
View all (13 more)		 N/A
Show/Hide Text Mining Associations (163)
Associations from Text Mining Disease 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