ADGRG2 Gene (Protein Coding)

Adhesion G Protein-Coupled Receptor G2

GC0XM018989
GIFtS:
35
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. [pr... See more...

Aliases for ADGRG2 Gene

Aliases for ADGRG2 Gene

  • Adhesion G Protein-Coupled Receptor G2 2 3 5
  • TM7LN2 2 3 4
  • HE6 2 3 4
  • Adhesion G-Protein Coupled Receptor G2 3 4
  • Human Epididymis-Specific Protein 6 3 4
  • G Protein-Coupled Receptor 64 2 3
  • Epididymal Protein 6 2 3
  • EDDM6 2 3
  • GPR64 3 4
  • G Protein-Coupled Receptor, Epididymis-Specific (Seven Transmembrane Family) 3
  • G-Protein Coupled Receptor 64 4
  • CBAVDX 3
  • ADGRG2 5
  • He6 4

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 Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked and Vas Deferens, Congenital Bilateral Aplasia Of. Among its related pathways are GPCRs, Class B Secretin-like. Gene Ontology (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 Summary 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

Additional gene information for ADGRG2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADGRG2 Gene

Genomics for ADGRG2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ADGRG2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XJ019121 Promoter 1.1 EPDnew Ensembl 600.7 +0.7 655 1.8 KDM1A CTCF EZH2 ZNF341 SCRT2 ZBTB20 RAD21 ZBTB26 ZFHX2 SIN3A ADGRG2 piR-57133-631 PHKA2
GH0XJ019066 Enhancer 0.4 Ensembl 13.4 +55.9 55855 0.2 SP1 FOXA2 HNF4A ADGRG2 FJ601684-476 lnc-PHKA2-2 ENSG00000286724 LOC101928415 PHKA2
GH0XJ018543 Enhancer 0.6 Ensembl 4.5 +577.7 577656 3 SP1 FOXA2 JUND TBX3 SPI1 HNF4A NFIL3 RXRA RARA HNF4G ADGRG2 lnc-PPEF1-5 RF00487-003 CDKL5 RS1
GH0XJ019106 Enhancer 0.9 FANTOM5 Ensembl ENCODE 2 +15.6 15624 2.5 CTCF POLR2A SPI1 NANOG SP1 POU5F1 MAFK ADGRG2 piR-57133-631 PHKA2
GH0XJ018465 Enhancer 0.2 Ensembl 4.5 +657.7 657655 0.2 ADGRG2 RF00017-8193 piR-57460-698 CDKL5 RS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADGRG2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADGRG2

Genomic Locations for ADGRG2 Gene

Genomic Locations for ADGRG2 Gene
chrX:18,989,307-19,122,956
(GRCh38/hg38)
Size:
133,650 bases
Orientation:
Minus strand
chrX:19,007,425-19,140,755
(GRCh37/hg19)
Size:
133,331 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 Structure • Gene Density

RefSeq DNA sequence for ADGRG2 Gene

Proteins for ADGRG2 Gene

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  • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for ADGRG2 Gene

Protein Expression for ADGRG2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ADGRG2 Gene

  • Proteolytically cleaved into 2 subunits, an extracellular subunit and a seven-transmembrane subunit.
  • Highly glycosylated.
  • Glycosylation at Asn44, Asn85, Asn111, Asn99, Asn117, Asn144, Asn162, Asn186, Asn194, Thr268, Ser271, Thr277, Asn357, Asn370, Asn435, Asn438, Asn456, Asn461, Asn597, Asn528, Asn542, Asn547, Asn551, and Asn857
  • Modification sites at PhosphoSitePlus

Other Protein References for ADGRG2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ADGRG2 Gene

Domains & Families for ADGRG2 Gene

Gene Families for ADGRG2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • G-protein coupled receptors
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for ADGRG2 Gene

InterPro:
Blocks:
  • G-protein coupled receptors family 2 (secretin-like)
  • GPS domain
ProtoNet:

Suggested Antigen Peptide Sequences for ADGRG2 Gene

GenScript: Design optimal peptide antigens:
  • G protein-coupled receptor 64 (B1AWB5_HUMAN)
  • Human epididymis-specific protein 6 (GPR64_HUMAN)
  • GPR64 protein (Q14CE1_HUMAN)
  • G protein-coupled receptor 64 (Q499H0_HUMAN)

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

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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.

Phenotypes From GWAS Catalog for ADGRG2 Gene

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,IBA 21873635
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

CRISPR Products

miRNA for ADGRG2 Gene

miRTarBase miRNAs that target ADGRG2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADGRG2

Clone 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 4
cytosol 4
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ADGRG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IEA,IDA --
GO:0005887 integral component of plasma membrane TAS,IBA 21873635
GO:0009986 cell surface HDA 19581412
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ADGRG2: view

Pathways & Interactions for ADGRG2 Gene

PathCards logo

SuperPathways for ADGRG2 Gene

SuperPathway Contained pathways
1 GPCRs, Class B Secretin-like
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

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000369198 Q8IZP9-AGRG2_HUMAN for ADGRG2 Gene via STRING IID

GPS-Prot Interaction Network for ADGRG2

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 TAS 9150425
GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA 21873635
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

Drugs & Compounds for ADGRG2 Gene

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No Compound Related Data Available

Transcripts for ADGRG2 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for ADGRG2 Gene

9 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADGRG2

Clone 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

Expression for ADGRG2 Gene

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

mRNA expression in normal human tissues for ADGRG2 Gene
mRNA expression by GTEx 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, MaxQB, and MOPED for ADGRG2 Gene



Protein tissue co-expression partners for ADGRG2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 30 31
  • 98.75 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia GPR64 30 31
  • 87.79 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia GPR64 30 31
  • 86.92 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Gpr64 30 31
  • 84.36 (n)
 OneToOne
Adgrg2 17
Rat
(Rattus norvegicus)
 Mammalia Gpr64 30
  • 83.32 (n)
Oppossum
(Monodelphis domestica)
 Mammalia GPR64 31
  • 68 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia GPR64 31
  • 66 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves GPR64 30 31
  • 68.2 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia GPR64 31
  • 59 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii CABZ01049802.1 31
  • 37 (a)
 OneToMany
GPR64 (2 of 2) 31
  • 26 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta Cirl 31
  • 10 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea lat-2 31
  • 13 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 46 (a)
 OneToMany
Species where no ortholog for ADGRG2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ADGRG2: view image

Paralogs for ADGRG2 Gene

Variants for ADGRG2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADGRG2 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
691628 Pathogenic: Congenital bilateral aplasia of vas deferens from CFTR mutation 18,999,137(-) G/A NONSENSE
691629 Pathogenic: Congenital bilateral aplasia of vas deferens from CFTR mutation 19,002,979(-) T/TA FRAMESHIFT_VARIANT
691630 Pathogenic: Congenital bilateral aplasia of vas deferens from CFTR mutation 19,035,953(-) G/C NONSENSE
691631 Pathogenic: Congenital bilateral aplasia of vas deferens from CFTR mutation 19,008,085(-) GC/G FRAMESHIFT_VARIANT
691632 Pathogenic: Congenital bilateral aplasia of vas deferens from CFTR mutation 19,013,771(-) TG/T FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for ADGRG2 Gene

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)

Additional Variant Information 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

(4) MalaCards diseases for ADGRG2 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for ADGRG2

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 … Schiöth HB (Pharmacological reviews 2015) 2 3 4
  2. HE6, a two-subunit heptahelical receptor associated with apical membranes of efferent and epididymal duct epithelia. (PMID: 12420295) Obermann H … Kirchhoff C (Molecular reproduction and development 2003) 3 4 23
  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 and cell biology 1997) 2 3 4
  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 (American journal of human genetics 2016) 3 4
  5. Function of human epididymal proteins in sperm maturation. (PMID: 9739419) Kirchhoff C … Schröter S (Andrologia 1998) 2 3

ExternalLinks

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