ITGB2 integrin subunit beta 2

Gene ID: 3689, updated on 3-Apr-2024
Gene type: protein coding
Also known as: LAD; CD18; MF17; MFI7; LCAMB; LFA-1; MAC-1

Summary

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 signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Leukocyte adhesion deficiency 1 MedGen: C0398738OMIM: 116920GeneReviews: Not available	See labs

Genomic context

Location:: 21q22.3

Sequence:: Chromosome: 21; NC_000021.9 (44885953..44928815, complement)

Total number of exons:: 17

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for ITGB2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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