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Aliases for ADGRG2 Gene

Aliases for ADGRG2 Gene

  • Adhesion G Protein-Coupled Receptor G2 2 3 5
  • Human Epididymis-Specific Protein 6 3 4
  • G Protein-Coupled Receptor 64 2 3
  • Epididymal Protein 6 2 3
  • TM7LN2 3 4
  • GPR64 3 4
  • HE6 3 4
  • G Protein-Coupled Receptor, Epididymis-Specific (Seven Transmembrane Family) 3
  • Adhesion G-Protein Coupled Receptor G2 3
  • G-Protein Coupled Receptor 64 4
  • CBAVDX 3
  • EDDM6 3

External Ids for ADGRG2 Gene

Previous HGNC Symbols for ADGRG2 Gene

  • GPR64

Summaries for ADGRG2 Gene

Entrez Gene Summary for ADGRG2 Gene

  • 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]

GeneCards Summary for ADGRG2 Gene

ADGRG2 (Adhesion G Protein-Coupled Receptor G2) is a Protein Coding gene. Diseases associated with ADGRG2 include Congenital Bilateral Absence Of Vas Deferens. Among its related pathways are GPCRs, Class B Secretin-like. GO annotations related to this gene include G-protein coupled receptor activity and transmembrane signaling receptor activity. An important paralog of this gene is ADGRG6.

UniProtKB/Swiss-Prot for ADGRG2 Gene

  • Orphan receptor. Could be involved in a signal transduction pathway controlling epididymal function and male fertility. May regulate fluid exchange within epididymis.

Gene Wiki entry for ADGRG2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADGRG2 Gene

Genomics for ADGRG2 Gene

Regulatory Elements for ADGRG2 Gene

Enhancers for ADGRG2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG019108 0.3 FANTOM5 2 +14.7 14715 0.1 ADGRG2 PHKA2
GH0XG019107 0.5 ENCODE 0.4 +15.6 15621 0.8 BCL11A POU5F1 CHD7 MAFK ADGRG2 PHKA2
GH0XG019106 0.4 ENCODE 0.4 +16.8 16824 0.1 CTCF ADGRG2 PHKA2
GH0XG019046 0.7 ENCODE 0.2 +76.3 76286 0.9 PKNOX1 JUN INSM2 SIN3A ZIC2 HIC1 GLIS2 ZBTB48 FOSL2 FOS PHKA2 PHKA2-AS1 ADGRG2
GH0XG019194 0.7 FANTOM5 0.2 -71.8 -71796 0.1 CTCF PKNOX1 JUNB RAD21 EP300 RELA SP1 TCF7 RELB CREM GC0XP019197 ADGRG2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ADGRG2 on UCSC Golden Path with GeneCards custom track

Promoters for ADGRG2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000245013 631 1001 CTCF SIN3A ZBTB8A RAD21 POLR2A SCRT2 ZNF341 SMC3 ZBTB26 ZBTB20

Genomic Location for ADGRG2 Gene

Chromosome:
X
Start:
18,989,307 bp from pter
End:
19,122,931 bp from pter
Size:
133,625 bases
Orientation:
Minus strand

Genomic View for ADGRG2 Gene

Genes around ADGRG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADGRG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADGRG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADGRG2 Gene

Proteins for ADGRG2 Gene

  • Protein details for ADGRG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZP9-AGRG2_HUMAN
    Recommended name:
    Adhesion G-protein coupled receptor G2
    Protein Accession:
    Q8IZP9
    Secondary Accessions:
    • B1AWB3
    • B1AWB4
    • B1AWB6
    • B1AWB7
    • O00406
    • Q14CE0
    • Q8IWT2
    • Q8IZE4
    • Q8IZE5
    • Q8IZE6
    • Q8IZE7
    • Q8IZP3
    • Q8IZP4

    Protein attributes for ADGRG2 Gene

    Size:
    1017 amino acids
    Molecular mass:
    111593 Da
    Quaternary structure:
    • Heterodimer of 2 chains generated by proteolytic processing; the large extracellular N-terminal fragment and the membrane-bound C-terminal fragment predominantly remain associated and non-covalently linked.

    Alternative splice isoforms for ADGRG2 Gene

neXtProt entry for ADGRG2 Gene

Post-translational modifications for ADGRG2 Gene

  • Highly glycosylated.
  • Proteolytically cleaved into 2 subunits, an extracellular subunit and a seven-transmembrane subunit.
  • Glycosylation at Asn44, Asn85, posLast=9999, Asn111, posLast=117117, posLast=144144, Asn162, Asn186, posLast=194194, posLast=268268, Ser271, Thr277, Asn357, posLast=370370, posLast=435435, posLast=438438, Asn456, Asn461, Asn528, posLast=542542, Asn547, posLast=551551, posLast=597597, and posLast=857857
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ADGRG2 Gene

Domains & Families for ADGRG2 Gene

Gene Families for ADGRG2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IZP9

UniProtKB/Swiss-Prot:

AGRG2_HUMAN :
  • Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily.
Family:
  • Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily.
genes like me logo Genes that share domains with ADGRG2: view

Function for ADGRG2 Gene

Molecular function for ADGRG2 Gene

UniProtKB/Swiss-Prot Function:
Orphan receptor. Could be involved in a signal transduction pathway controlling epididymal function and male fertility. May regulate fluid exchange within epididymis.

Gene Ontology (GO) - Molecular Function for ADGRG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004930 G-protein coupled receptor activity TAS,IEA --
genes like me logo Genes that share ontologies with ADGRG2: view
genes like me logo Genes that share phenotypes with ADGRG2: view

Human Phenotype Ontology for ADGRG2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADGRG2 Gene

MGI Knock Outs for ADGRG2:

Animal Model Products

miRNA for ADGRG2 Gene

miRTarBase miRNAs that target ADGRG2

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ADGRG2 Gene

Localization for ADGRG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADGRG2 Gene

Apical cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADGRG2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 4

Gene Ontology (GO) - Cellular Components for ADGRG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
GO:0005887 integral component of plasma membrane TAS 9150425
GO:0009986 cell surface IDA 19581412
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ADGRG2: view

Pathways & Interactions for ADGRG2 Gene

SuperPathways for ADGRG2 Gene

SuperPathway Contained pathways
1 GPCRs, Class B Secretin-like
genes like me logo Genes that share pathways with ADGRG2: view

Pathways by source for ADGRG2 Gene

1 BioSystems pathway for ADGRG2 Gene

Interacting Proteins for ADGRG2 Gene

Gene Ontology (GO) - Biological Process for ADGRG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007166 cell surface receptor signaling pathway IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA,TAS --
GO:0007283 spermatogenesis TAS 9150425
genes like me logo Genes that share ontologies with ADGRG2: view

No data available for SIGNOR curated interactions for ADGRG2 Gene

Transcripts for ADGRG2 Gene

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADGRG2 Gene

No ASD Table

Relevant External Links for ADGRG2 Gene

GeneLoc Exon Structure for
ADGRG2
ECgene alternative splicing isoforms for
ADGRG2

Expression for ADGRG2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADGRG2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ADGRG2 Gene

This gene is overexpressed in Platelet (66.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ADGRG2 Gene



Protein tissue co-expression partners for ADGRG2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ADGRG2 Gene:

ADGRG2

mRNA Expression by UniProt/SwissProt for ADGRG2 Gene:

Q8IZP9-AGRG2_HUMAN
Tissue specificity: Epididymis-specific expression (at protein level). Both subunits are associated with apical membranes of efferent ductule and proximal epididymal duct epithelia. Mainly expressed in the nonciliated principal cells of the proximal excurrent ducts. Specifically over-expressed in Ewing sarcomas but also up-regulated in a number of carcinomas derived from prostate, kidney or lung.
genes like me logo Genes that share expression patterns with ADGRG2: view

Primer Products

No data available for mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADGRG2 Gene

Orthologs for ADGRG2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADGRG2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GPR64 34 35
  • 98.75 (n)
dog
(Canis familiaris)
Mammalia GPR64 34 35
  • 87.79 (n)
cow
(Bos Taurus)
Mammalia GPR64 34 35
  • 86.92 (n)
mouse
(Mus musculus)
Mammalia Gpr64 34 35
  • 84.36 (n)
Adgrg2 16
rat
(Rattus norvegicus)
Mammalia Gpr64 34
  • 83.32 (n)
oppossum
(Monodelphis domestica)
Mammalia GPR64 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GPR64 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves GPR64 34 35
  • 68.2 (n)
lizard
(Anolis carolinensis)
Reptilia GPR64 35
  • 59 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CABZ01049802.1 35
  • 37 (a)
OneToMany
GPR64 (2 of 2) 35
  • 26 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Cirl 35
  • 10 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lat-2 35
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
OneToMany
Species where no ortholog for ADGRG2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ADGRG2 Gene

ENSEMBL:
Gene Tree for ADGRG2 (if available)
TreeFam:
Gene Tree for ADGRG2 (if available)

Paralogs for ADGRG2 Gene

genes like me logo Genes that share paralogs with ADGRG2: view

Variants for ADGRG2 Gene

Sequence variations from dbSNP and Humsavar for ADGRG2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs879255538 Pathogenic 18,994,920(-) ATGAT(-/T)GCTCA intron-variant, reference, frameshift-variant
rs879255539 Pathogenic 19,003,070(-) TCCAG(AGA/CTGTG)TGCTG intron-variant, reference, frameshift-variant
rs879255540 Pathogenic 19,008,000(-) TTTTT(-/T)GAAAC intron-variant, reference, frameshift-variant
rs1000036742 -- 19,093,285(+) TCTCA(A/G)GTTAC intron-variant, utr-variant-5-prime
rs1000115862 -- 19,089,599(+) CAACC(-/A)AAAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ADGRG2 Gene

Variant ID Type Subtype PubMed ID
esv2660427 CNV deletion 23128226
esv2739998 CNV deletion 23290073
esv2752317 CNV gain 17911159
esv33517 CNV loss 17666407
esv3576793 CNV gain 25503493
nsv6823 CNV insertion 18451855

Variation tolerance for ADGRG2 Gene

Residual Variation Intolerance Score: 76.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.99; 60.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADGRG2 Gene

Human Gene Mutation Database (HGMD)
ADGRG2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADGRG2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADGRG2 Gene

Disorders for ADGRG2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ADGRG2 Gene - From: ClinVar, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
congenital bilateral absence of vas deferens
  • congenital bilateral absence of the vas deferens
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AGRG2_HUMAN
  • Congenital bilateral aplasia of the vas deferens, X-linked (CBAVDX) [MIM:300985]: A disease characterized by bilateral absence of vas deferens, obstructive azoospermia, and infertility. {ECO:0000269 PubMed:27476656}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ADGRG2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADGRG2
genes like me logo Genes that share disorders with ADGRG2: view

No data available for Genatlas for ADGRG2 Gene

Publications for ADGRG2 Gene

  1. International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors. (PMID: 25713288) Hamann J. … SchiAPth H.B. (Pharmacol. Rev. 2015) 2 3 4 64
  2. HE6, a two-subunit heptahelical receptor associated with apical membranes of efferent and epididymal duct epithelia. (PMID: 12420295) Obermann H. … Kirchhoff C. (Mol. Reprod. Dev. 2003) 3 4 22 64
  3. Cloning of a human epididymis-specific mRNA, HE6, encoding a novel member of the seven transmembrane-domain receptor superfamily. (PMID: 9150425) Osterhoff C. … Kirchhoff C. (DNA Cell Biol. 1997) 2 3 4 64
  4. Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens. (PMID: 27476656) Patat O. … Bieth E. (Am. J. Hum. Genet. 2016) 3 4 64
  5. Function of human epididymal proteins in sperm maturation. (PMID: 9739419) Kirchhoff C. … SchrAPter S. (Andrologia 1998) 2 3 64

Products for ADGRG2 Gene

Sources for ADGRG2 Gene

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