Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Integrin alpha-2

The ITGA2 gene encodes a transmembane protein that binds collagen, stabilizes the extracellular matrix, and is involved in platelet aggregation. Mutations cause autosomal dominant platelet-type bleeding disorder 9.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Target mutation analysis
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Bleeding disorder platelet-type 9
ITGA2
Glycoprotein 1a deficiency
ITGA2

References:

1.

Santoso S et al. (1993) The human platelet alloantigens Br(a) and Brb are associated with a single amino acid polymorphism on glycoprotein Ia (integrin subunit alpha 2).

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2.

Nieuwenhuis HK et al. () Human blood platelets showing no response to collagen fail to express surface glycoprotein Ia.

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3.

Noris P et al. (2006) Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia.

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4.

Jaspers M et al. (1991) Localization of the gene encoding the alpha 2 subunit of the human VLA-2 receptor to chromosome 5q23-31.

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5.

Kaplan C et al. (1991) HPA-5b (Br(a)) neonatal alloimmune thrombocytopenia: clinical and immunological analysis of 39 cases.

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6.

Bettaieb A et al. (1991) Brb, a platelet alloantigen involved in neonatal alloimmune thrombocytopenia.

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7.

Kiefel V et al. (1991) Neonatal alloimmune thrombocytopenia due to anti-Brb (HPA-5a). Report of three cases in two families.

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8.

Takada Y et al. (1989) The primary structure of the VLA-2/collagen receptor alpha 2 subunit (platelet GPIa): homology to other integrins and the presence of a possible collagen-binding domain.

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9.

Mueller-Eckhardt C et al. (1989) 348 cases of suspected neonatal alloimmune thrombocytopenia.

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10.

Woods VL et al. (1989) Antigenic polymorphism of human very late activation protein-2 (platelet glycoprotein Ia-IIa). Platelet alloantigen Hca.

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11.

Kiefel V et al. (1988) A new platelet-specific alloantigen Bra. Report of 4 cases with neonatal alloimmune thrombocytopenia.

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12.

Kunicki TJ et al. (1997) Hereditary variation in platelet integrin alpha 2 beta 1 density is associated with two silent polymorphisms in the alpha 2 gene coding sequence.

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13.

Kritzik M et al. (1998) Nucleotide polymorphisms in the alpha2 gene define multiple alleles that are associated with differences in platelet alpha2 beta1 density.

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14.

Santoso S et al. (1999) Association of the platelet glycoprotein Ia C807T gene polymorphism with nonfatal myocardial infarction in younger patients.

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15.

Carlsson LE et al. (1999) The alpha2 gene coding sequence T807/A873 of the platelet collagen receptor integrin alpha2beta1 might be a genetic risk factor for the development of stroke in younger patients.

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16.

Santoso S et al. (1999) A point mutation Thr(799)Met on the alpha(2) integrin leads to the formation of new human platelet alloantigen Sit(a) and affects collagen-induced aggregation.

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17.

von Beckerath N et al. (2000) Glycoprotein Ia gene C807T polymorphism and risk for major adverse cardiac events within the first 30 days after coronary artery stenting.

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18.

Inoue O et al. (2003) Integrin alpha2beta1 mediates outside-in regulation of platelet spreading on collagen through activation of Src kinases and PLCgamma2.

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19.

Orphanet article

Orphanet ID 328915 [^]
20.

NCBI article

NCBI 3673 [^]
21.

OMIM.ORG article

Omim 192974 [^]
22.

Wikipedia article

Wikipedia EN (Integrin_alpha_2) [^]
Update: April 29, 2019