Information on ITGB2
Basic details
Alt. symbols: CD18 | MFI7 | LFA-1 | MAC-1
Approved name: integrin subunit beta 2
Alt. names: integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit), integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) | complement component 3 receptor 3 and 4 subunit
Location: 21q22.3: 44885953 - 44931989 (-)
Gene type: protein_coding, 26 transcripts.
Scores: LoFtool: 0.033300 | pLI: 0.00003876 | LOEUF: 0.990
Normal function
Dysfunction and disease
Leukocyte adhesion deficiency [MIM:116920]. Biallelic mutations in ITGB2 cause Leukocyte adhesion deficiency. This is a rare autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bac terial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes. [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
LAD1 |
Leukocyte adhesion deficiency, type I | AR |
116920 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of ITGB2
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 225 | ENST00000652462.1 | 1 | CCDS13716 | Select | protein_coding | 16 | Yes | 2807 | NM_000211,NM_001303238 |
| 206 | ENST00000397852.5 | CCDS13716 | protein_coding | 15 | No | 2769 | XM_006724001 | ||
| 203 | ENST00000355153.8 | CCDS13716 | protein_coding | 16 | No | 2913 | NM_001127491 | ||
| 208 | ENST00000397857.5 | CCDS13716 | protein_coding | 16 | No | 2813 | XM_054324468 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| 2007 | Somatic reversion | 17244687 | back mutation |
| 2008 | Somatic reversion | 17875809 | site-specific substitution |
| 2014 | Somatic reversion | 25135596 | back mutation |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
References linked to variants in ITGB2
| ID | Year | Title | Journal | PMID | Variants |
|---|