Gene
ITGB2
integrin subunit beta 2
- HGNC 6155↗(opens in a new tab)
- Ensembl gene ENSG00000160255↗(opens in a new tab)
- NCBI Gene 3689↗(opens in a new tab)
Summary
- Cytogenetic location
- 21q22.3
- Coordinates
- Chromosome 21: 44,885,953–44,920,899 (GRCh38)
- Exons
- 16 exons across 34.9 kb
- Protein
- 769 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- LFA-1, MAC-1
- Previous symbols
- CD18, MFI7
- MANE Select transcript
- ENST00000652462.1NM_000211.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Leukocyte Adhesion Deficiency
- Autosomal recessive
Defective white cell adhesion caused by changes in both copies of ITGB2, SLC35C1 or FERMT3.
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Severe forms are treated with stem cell transplantation; type 2 may respond to oral fucose, and antibiotic prophylaxis and dental care reduce infections.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How ITGB2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.8 kb of the gene's 34.9 kb; 2,310 of those bases code for the protein.
How a genome test reads ITGB2
60
positions in ITGB2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 34.9 kb of ITGB2, introns included, not only the 2.8 kb of exons.
Genes linked to the same conditions
Traits linked to ITGB2
The Human Phenotype Ontology lists these as features of the rare conditions ITGB2 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). ITGB2 gene: integrin subunit beta 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/itgb2
Dante Labs. ITGB2 gene: integrin subunit beta 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/itgb2
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