Gene: ADGRG2

Alternate names for this Gene: CBAVDX|EDDM6|GPR64|HE6|TM7LN2

Gene Summary: This gene encodes a member of the G protein-coupled receptor family described as an epididymis-specific transmembrane protein. The encoded protein may be proteolytically processed as it contains a motif shown to be a protein scission motif in some members of this family (PMID: 11973329). Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: X

Location in Chromosome : Xp22.13

Description of this Gene: adhesion G protein-coupled receptor G2

Type of Gene: protein-coding

Gene: LOC101928415

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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Description of this Gene:

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rs879255539 in ADGRG2;LOC101928415 gene and Congenital bilateral aplasia of vas deferens PMID 27476656 2016 Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens.

rs879255539 in ADGRG2;LOC101928415 gene and Infertility PMID 27476656 2016 We identified three protein-truncating hemizygous mutations, c.1545dupT (p.Glu516Ter), c.2845delT (p.Cys949AlafsTer81), and c.2002_2006delinsAGA (p.Leu668ArgfsTer21), in ADGRG2, encoding the epididymal- and efferent-ducts-specific adhesion G protein-coupled receptor G2, in four subjects, including two related individuals with X-linked transmission of their infertility.

rs879255539 in ADGRG2;LOC101928415 gene and Obstructive azoospermia PMID 27476656 2016 Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens.