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ADAM2

Synonyms
CRYN1, CRYN2, CT15, FTNB, PH-30b, PH30, PH30-beta
External resources
Summary
This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded protein is a subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. Alternative splicing results in multiple transcript variants encoding different isoforms.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
3,277
Likely benign
3,869
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ADAM2 gene.

Phenotype class
Patients in 3billion (%)

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