RBCC

ITB2_HUMAN

Source: PM23856902
BSc_CH
Marked as 'Integral membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: ITGB2 , CD18, MFI7
Protein names and data: ITB2_HUMAN , Integrin beta-2 , Cell surface adhesion glycoproteins LFA-1/CR3/p150,95 subunit beta; Complement receptor C3 subunit beta; CD18; Flags: Precursor Lenght: 769 a.a.
Mass: 84782 Da
fasta formatted sequence
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.
Disease: ( OMIM: 116920 600065 ) 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Membrane; Single-pass type I membrane protein.

Genetic variants

128 - 128 D -> N (in LAD1; dbSNP:rs137852615). VAR_003984 137852615
128 - 128 D -> Y (in LAD1; dbSNP:rs137852615). VAR_065661 137852615
138 - 138 S -> P (in LAD1; dbSNP:rs137852617). VAR_013402 137852617
149 - 149 L -> P (in LAD1; dbSNP:rs137852611). VAR_003985 137852611
169 - 169 G -> R (in LAD1; dbSNP:rs137852612). VAR_003986 137852612
178 - 178 P -> L (in LAD1; dbSNP:rs137852614). VAR_003987 137852614
196 - 196 K -> T (in LAD1; dbSNP:rs137852610). VAR_003988 137852610
239 - 239 A -> T (in LAD1; dbSNP:rs179363873). VAR_065662 179363873
273 - 273 G -> R (in LAD1; dbSNP:rs137852618). VAR_013403 137852618
284 - 284 G -> S (in LAD1; dbSNP:rs137852616). VAR_003989 137852616
300 - 300 D -> V (in LAD1; dbSNP:rs179363874). VAR_065663 179363874
351 - 351 N -> S (in LAD1; dbSNP:rs137852613). VAR_003990 137852613
354 - 354 Q -> H (in dbSNP:rs235330). VAR_030035 235330
586 - 586 R -> W (in LAD1; dbSNP:rs5030672). VAR_003991 5030672
593 - 593 R -> C (in LAD1; dbSNP:rs137852609). VAR_003992 137852609
716 - 716 G -> A (in LAD1; dbSNP:rs179363872). VAR_065664 179363872

Database cross-references

UniProt: P05107
Ensembl: ENST00000302347
Ensembl: ENST00000355153
Ensembl: ENST00000397850
Ensembl: ENST00000397852
Ensembl: ENST00000397857
MIM: 116920
MIM: 600065
neXtProt: NX_P05107
Antibodypedia: P05107 (may not find the protein thus also not any antibody)
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RBCC Red Blood Cell Collection

ITB2_HUMAN

Genetic variants

Database cross-references

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