ADGRG2 Chromosome X
Adhesion G protein-coupled receptor G2
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What This Gene Does
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. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
Adhesion G protein-coupled receptors, subfamily G
Locus Type
gene with protein product
Location
Xp22.13
Ensembl
ENSG00000173698
Associated Conditions (6)
Inborn genetic diseases
Congenital bilateral aplasia of vas deferens from CFTR mutation
Vas deferens
congenital bilateral aplasia of
X-linked
Obstructive azoospermia
Key Variants
RS142899178
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS189104619
Conflicting classifications of pathogenicity
Congenital bilateral aplasia of vas deferens from CFTR mutation, Congenital bilateral aplasia of vas deferens from CFTR mutation
Health Risk
RS2146675486
Likely pathogenic
Vas deferens, congenital bilateral aplasia of, X-linked
Health Risk
RS1016696059
Pathogenic
Congenital bilateral aplasia of vas deferens from CFTR mutation, Congenital bilateral aplasia of vas deferens from CFTR mutation
Health Risk
RS1601856142
Pathogenic
Congenital bilateral aplasia of vas deferens from CFTR mutation, Congenital bilateral aplasia of vas deferens from CFTR mutation
Health Risk
RS1601862802
Pathogenic
Congenital bilateral aplasia of vas deferens from CFTR mutation, Congenital bilateral aplasia of vas deferens from CFTR mutation
Health Risk
RS1601871234
Pathogenic
Congenital bilateral aplasia of vas deferens from CFTR mutation, Congenital bilateral aplasia of vas deferens from CFTR mutation
Health Risk
RS1601888330
Pathogenic
Congenital bilateral aplasia of vas deferens from CFTR mutation, Congenital bilateral aplasia of vas deferens from CFTR mutation
Health Risk
RS1601950543
Pathogenic
Congenital bilateral aplasia of vas deferens from CFTR mutation, Congenital bilateral aplasia of vas deferens from CFTR mutation
Health Risk
RS2146526778
Pathogenic
Obstructive azoospermia, Obstructive azoospermia
Health Risk
RS774488954
Pathogenic
Congenital bilateral aplasia of vas deferens from CFTR mutation, Vas deferens, congenital bilateral aplasia of
Health Risk
RS879255538
Pathogenic
Congenital bilateral aplasia of vas deferens from CFTR mutation, Vas deferens, congenital bilateral aplasia of
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142899178 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS189104619 | Health Risk | Conflicting classifications of pathogenicity | Congenital bilateral aplasia of vas deferens from CFTR mutation, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS2146675486 | Health Risk | Likely pathogenic | Vas deferens, congenital bilateral aplasia of, X-linked |
| RS1016696059 | Health Risk | Pathogenic | Congenital bilateral aplasia of vas deferens from CFTR mutation, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS1601856142 | Health Risk | Pathogenic | Congenital bilateral aplasia of vas deferens from CFTR mutation, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS1601862802 | Health Risk | Pathogenic | Congenital bilateral aplasia of vas deferens from CFTR mutation, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS1601871234 | Health Risk | Pathogenic | Congenital bilateral aplasia of vas deferens from CFTR mutation, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS1601888330 | Health Risk | Pathogenic | Congenital bilateral aplasia of vas deferens from CFTR mutation, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS1601950543 | Health Risk | Pathogenic | Congenital bilateral aplasia of vas deferens from CFTR mutation, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS2146526778 | Health Risk | Pathogenic | Obstructive azoospermia, Obstructive azoospermia |
| RS774488954 | Health Risk | Pathogenic | Congenital bilateral aplasia of vas deferens from CFTR mutation, Vas deferens, congenital bilateral aplasia of |
| RS879255538 | Health Risk | Pathogenic | Congenital bilateral aplasia of vas deferens from CFTR mutation, Vas deferens, congenital bilateral aplasia of |
| RS879255539 | Health Risk | Pathogenic | Congenital bilateral aplasia of vas deferens from CFTR mutation, Vas deferens, congenital bilateral aplasia of |