Home
Search

Simple

Advanced

Syndromes

Chromosomal defects

Infertility phenotypes

Highthroughput dataset
Browse

Genes

Proteins

SNPs

References

GO

Diseases

Pathways

Tools

Orthologs

SNPs

Motif scan

STRING

CDART
BLAST

BLASTN

BLASTP
Analysis

Panther

Function

GO

Pathways

Diseases
  Help
Statistics
   About Us

Search Result


Gene id 10149
Gene Summary     SNPs    Diseases    PubMed    

Gene Summary
Gene Symbol ADGRG2   Gene   UCSC   Ensembl
Aliases CBAVDX, EDDM6, GPR64, HE6, TM7LN2
Gene name adhesion G protein-coupled receptor G2
Alternate names adhesion G-protein coupled receptor G2, G protein-coupled receptor 64, G protein-coupled receptor, epididymis-specific (seven transmembrane family), epididymal protein 6, human epididymis-specific protein 6,
Gene location Xp22.13 (19122955: 18989306)     Exons: 32     NC_000007.14
Gene summary(Entrez) 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
OMIM 300572

SNPs
rs879255539

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000023.11   g.19003070_19003074delinsTCT
NC_000023.10   g.19021188_19021192delinsTCT
NG_021304.1   g.124564_124568delinsAGA
NM_005756.3   c.1993_1997delinsAGA
NM_005756.4   c.1993_1997delinsAGA
NM_001079858.3   c.2002_2006delinsAGA
NM_001079858.2   c.2002_2006d

rs879255538

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000023.11   g.18994921del
NC_000023.10   g.19013039del
NG_021304.1   g.132718del
NM_005756.3   c.2836del
NM_005756.4   c.2836del
NM_001079858.3   c.2845del
NM_001079858.2   c.2845del
NM_001079859.2   c.2803del
NM_001079859.3   c.2803del
NM_001079860.2   c.2779del
NM_  

Diseases

Expand All | Collapse All
Associated diseases References
Male factor infertility MIK: 27476656
Congenital bilateral absence of the vas deferens (CBAVD) MIK: 28805948
Congenital bilateral absence of the vas deferens (CBAVD) MIK: 27476656
Congenital absence of vas deferens (CAVD) MIK: 31845523
Male infertility MIK: 15367682
Obstructive azoospermia MIK: 30389958
Sperm number defects MIK: 29713536

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
28805948 Congenital
bilateral
absence o
f the vas
deferens (
CBAVD), Ma
le inferti
lity
 c.G1709A, p.C570Y; and c.A2968G, p.K990E

Male infertility
Show abstract
27476656 CBAVD, Mal
e infertil
ity
 c.1545dupT (p.Glu516Ter), c.2845delT (p.Cys949AlafsTer81), and c.2002_2006delinsAGA (p.Leu668ArgfsTer21)
26 (12 CFTR-neg
ative men with
CBAVD, targeted
sequencing on
14 additional i
ndividuals)
 Male infertility
Show abstract
29713536 Sperm numb
er defects
 c.A2968G (p.K990E)], [c.G1709A (p.C570Y)

Male infertility NGS
 Show abstract
30389958 Obstructiv
e azoosper
mia
 c.2440C?>?T(p.Arg814*) Pakista
ni
 4 (2 infertile
brothers and 2
fertile family
members)
 Male infertility NGS
 Show abstract
31845523 Congenital
absence o
f vas defe
rens (CAVD
)
 c.251C > G (p.Ser84*), c.1013delC (p.Pro338Hisfs*4), c.1460delG (p.Gly487Alafs*9), c.2096dupT (p.Phe700Ilefs*29), c.2473C > T (p.Arg825*), and c.1731_1839 + 373del (p.Asn578Thrfs*12) Caucasi
an
 51 apparently h
ealthy infertil
e men and 2 new
born twin broth
ers with bilate
ral absence of
the vas deferen
s
 Male infertility NGS
 Show abstract
15367682 Male infer
tility

Male infertility
Show abstract