ITGB2 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ITGB2 (HGNC:6155) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- integrin subunit beta 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- CD18, MFI7
- Alias symbols
- LFA-1, MAC-1
- %HI
- 59.06(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.99(Read more about gnomAD LOEUF score)
- Cytoband
- 21q22.3
- Genomic Coordinates
-
GRCh37/hg19: chr21:46305868-46348730 NCBI Ensembl UCSC GRCh38/hg38: chr21:44885953-44928815 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000211.5 ENST00000652462.1 (Read more about MANE Select)
- 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 and ITGAX/ITGB2 are receptors for the iC3b fragment of the third complement component and for fibrinogen. Integrin ITGAX/ITGB2 recognizes the sequence G-P-R in fibrinogen alpha-chain. Integrin ITGAM/ITGB2 recognizes P1 and P2 peptides of fibrinogen gamma ch... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-11650
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- leukocyte adhesion deficiency 1 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000021.8)
(NC_000021.9)