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ADGRG2 adhesion G protein-coupled receptor G2 [ Homo sapiens (human) ]

Gene ID: 10149, updated on 11-Apr-2024

Summary

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Official Symbol
ADGRG2provided by HGNC
Official Full Name
adhesion G protein-coupled receptor G2provided by HGNC
Primary source
HGNC:HGNC:4516
See related
Ensembl:ENSG00000173698 MIM:300572; AllianceGenome:HGNC:4516
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HE6; EDDM6; GPR64; CBAVDX; TM7LN2
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. [provided by RefSeq, Aug 2011]
Expression
Biased expression in stomach (RPKM 3.6), lymph node (RPKM 2.3) and 13 other tissues See more
Orthologs
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Genomic context

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Location:
Xp22.13
Exon count:
32
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (18989307..19122956, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (18572021..18705687, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (19007425..19140586, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene PHKA2 antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 48, pseudogene Neighboring gene phosphorylase kinase regulatory subunit alpha 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:19002034-19002534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29461 Neighboring gene uncharacterized LOC101928415 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:19125111-19125740 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:19182810-19182961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29462 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:19278446-19278946 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:19309116-19309616 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:19309617-19310117 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:19391289-19392229 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29463 Neighboring gene pyruvate dehydrogenase E1 subunit alpha 1 Neighboring gene mitogen-activated protein kinase kinase kinase 15 Neighboring gene eukaryotic translation initiation factor 5 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Structures of the ADGRG2-G(s) complex in apo and ligand-bound forms. Lin H, et al. Nat Chem Biol, 2022 Nov. PMID 35982227
  2. Conserved residues in the extracellular loop 2 regulate Stachel-mediated activation of ADGRG2. Gad AA, et al. Sci Rep, 2021 Jul 7. PMID 34234254, Free PMC Article
  3. A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens. Wu H, et al. J Assist Reprod Genet, 2020 Jun. PMID 32314195, Free PMC Article
  4. Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens. Pagin A, et al. Andrology, 2020 May. PMID 31845523
  5. Spatial regulation of GPR64/ADGRG2 signaling by β-arrestins and GPCR kinases. Azimzadeh P, et al. Ann N Y Acad Sci, 2019 Nov. PMID 31502283, Free PMC Article

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Adhesion G Protein-Coupled Receptor G2 Promotes Hepatocellular Carcinoma Progression and Serves as a Neutrophil-Related Prognostic Biomarker.
    Title: Adhesion G Protein-Coupled Receptor G2 Promotes Hepatocellular Carcinoma Progression and Serves as a Neutrophil-Related Prognostic Biomarker.
  2. A novel ADGRG2 truncating variant associated with X-linked obstructive azoospermia in a large Chinese pedigree.
    Title: A novel ADGRG2 truncating variant associated with X-linked obstructive azoospermia in a large Chinese pedigree.
  3. Structures of the ADGRG2-Gs complex in apo and ligand-bound forms.
    Title: Structures of the ADGRG2-G(s) complex in apo and ligand-bound forms.
  4. Conserved residues in the extracellular loop 2 regulate Stachel-mediated activation of ADGRG2.
    Title: Conserved residues in the extracellular loop 2 regulate Stachel-mediated activation of ADGRG2.
  5. Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens.
    Title: Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens.
  6. A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens.
    Title: A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens.
  7. data suggest that GPCR64 N-terminal fragment not only shields the tethered agonist to prevent G protein signaling but also confers a conformation that inhibits the interaction with beta-arrestins and the consequent endocytosis and sustained signaling from endosomes
    Title: Spatial regulation of GPR64/ADGRG2 signaling by β-arrestins and GPCR kinases.
  8. G-protein coupled receptor 64 (GPR64) levels are remarkably lower in endometrial carcinoma samples compared to control. Depletion of GPR64 reveals an increase of colony formation ability, cell proliferation, cell migration, and invasion activity in Ishikawa and HEC1A cells. The expression of Connexin 43 is reduced through activation of AMP-activated protein kinase in tumor cells with GPR64-deficiency.
    Title: G-protein coupled receptor 64 (GPR64) acts as a tumor suppressor in endometrial cancer.
  9. Study identified novel nonsense variant c.2440C > T(p.Arg814*) in X-linked gene ADGRG2 as cause of obstructive azoospermia in a large Pakistani family.
    Title: X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
  10. The expression of GPR64 was increased in human endometrial stromal cells (hESCs) during in vitro decidualization. Interestingly, siRNA-mediated knockdown of GPR64 in hESCs remarkably reduced decidualization. These results suggest that Gpr64 has a crucial role in the decidualization of endometrial stromal cells.
    Title: G-protein coupled receptor 64 is required for decidualization of endometrial stromal cells.
Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Vas deferens, congenital bilateral aplasia of, X-linked
MedGen: C4310815 OMIM: 300985 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ00282, MGC104454, MGC138738, MGC138739

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein-coupled receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell surface receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in spermatogenesis TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cell surface HDA PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in extracellular exosome HDA PubMed 
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
adhesion G-protein coupled receptor G2
Names
G protein-coupled receptor 64
G protein-coupled receptor, epididymis-specific (seven transmembrane family)
epididymal protein 6
human epididymis-specific protein 6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021304.1 RefSeqGene

    Range
    5170..138331
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001079858.3 → NP_001073327.1  adhesion G-protein coupled receptor G2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001073327.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF538954, BC063315, X81892
    Consensus CDS
    CCDS43923.1
    UniProtKB/Swiss-Prot
    B1AWB3, B1AWB4, B1AWB6, B1AWB7, O00406, Q14CE0, Q8IWT2, Q8IZE4, Q8IZE5, Q8IZE6, Q8IZE7, Q8IZP3, Q8IZP4, Q8IZP9
    UniProtKB/TrEMBL
    A8K4P7
    Related
    ENSP00000369198.3, ENST00000379869.8
    Conserved Domains (2) summary
    pfam01825
    Location:569 → 612
    GPS; GPCR proteolysis site, GPS, motif
    cl21561
    Location:625 → 875
    7tm_4; Olfactory receptor

  2. NM_001079859.3 → NP_001073328.1  adhesion G-protein coupled receptor G2 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    BC063315, BC099901, X81892
    Consensus CDS
    CCDS43922.1
    UniProtKB/TrEMBL
    Q499H0
    Related
    ENSP00000349015.4, ENST00000356606.8
    Conserved Domains (2) summary
    pfam01825
    Location:555 → 598
    GPS; GPCR proteolysis site, GPS, motif
    cl21561
    Location:611 → 861
    7tm_4; Olfactory receptor

  3. NM_001079860.3 → NP_001073329.1  adhesion G-protein coupled receptor G2 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AF539456, BC063315, X81892
    Consensus CDS
    CCDS43921.1
    UniProtKB/TrEMBL
    Q499H0
    Related
    ENSP00000353421.4, ENST00000360279.8
    Conserved Domains (2) summary
    pfam01825
    Location:547 → 590
    GPS; GPCR proteolysis site, GPS, motif
    cl21561
    Location:603 → 853
    7tm_4; Olfactory receptor

  4. NM_001184833.2 → NP_001171762.1  adhesion G-protein coupled receptor G2 isoform 5 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (5) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AF538954, AY143366, BC063315, X81892
    Consensus CDS
    CCDS55378.1
    UniProtKB/TrEMBL
    A8K4P7
    Related
    ENSP00000369207.3, ENST00000379878.7
    Conserved Domains (2) summary
    pfam01825
    Location:553 → 596
    GPS; GPCR proteolysis site, GPS, motif
    cl21561
    Location:609 → 859
    7tm_4; Olfactory receptor

  5. NM_001184834.2 → NP_001171763.1  adhesion G-protein coupled receptor G2 isoform 6 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (6) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AF538954, AY148343, BC063315
    Consensus CDS
    CCDS55379.1
    UniProtKB/TrEMBL
    Q14CE1
    Related
    ENSP00000369202.2, ENST00000379873.6
    Conserved Domains (2) summary
    pfam01825
    Location:569 → 612
    GPS; GPCR proteolysis site, GPS, motif
    cl21561
    Location:625 → 875
    7tm_4; Olfactory receptor

  6. NM_001184835.2 → NP_001171764.1  adhesion G-protein coupled receptor G2 isoform 7 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks three alternate in-frame exons compared to variant 1. The resulting isoform (7) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AY143364, BC063315, X81892
    UniProtKB/TrEMBL
    Q499H0
    Conserved Domains (2) summary
    pfam01825
    Location:531 → 574
    GPS; GPCR proteolysis site, GPS, motif
    cl21561
    Location:587 → 837
    7tm_4; Olfactory receptor

  7. NM_001184836.2 → NP_001171765.1  adhesion G-protein coupled receptor G2 isoform 8 precursor

    See identical proteins and their annotated locations for NP_001171765.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (8) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AF538954, AY143367, BC063315, X81892
    Consensus CDS
    CCDS55376.1
    UniProtKB/TrEMBL
    A8K4P7
    Related
    ENSP00000369205.1, ENST00000379876.5
    Conserved Domains (2) summary
    pfam01825
    Location:545 → 588
    GPS; GPCR proteolysis site, GPS, motif
    cl21561
    Location:601 → 851
    7tm_4; Olfactory receptor

  8. NM_001184837.2 → NP_001171766.1  adhesion G-protein coupled receptor G2 isoform 9 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (9) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AF539455, BC063315, X81892
    Consensus CDS
    CCDS55377.1
    UniProtKB/TrEMBL
    Q499H0
    Related
    ENSP00000350152.3, ENST00000357544.7
    Conserved Domains (2) summary
    pfam01825
    Location:539 → 582
    GPS; GPCR proteolysis site, GPS, motif
    cl21561
    Location:595 → 845
    7tm_4; Olfactory receptor

  9. NM_005756.4 → NP_005747.2  adhesion G-protein coupled receptor G2 isoform 4 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AK291012, BC063315, X81892
    Consensus CDS
    CCDS14191.1
    UniProtKB/TrEMBL
    A8K4P7
    Related
    ENSP00000350680.3, ENST00000357991.7
    Conserved Domains (2) summary
    pfam01825
    Location:566 → 609
    GPS; GPCR proteolysis site, GPS, motif
    cl21561
    Location:622 → 872
    7tm_4; Olfactory receptor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    18989307..19122956 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724455.3 → XP_006724518.1  adhesion G-protein coupled receptor G2 isoform X2

    See identical proteins and their annotated locations for XP_006724518.1

    UniProtKB/Swiss-Prot
    B1AWB3, B1AWB4, B1AWB6, B1AWB7, O00406, Q14CE0, Q8IWT2, Q8IZE4, Q8IZE5, Q8IZE6, Q8IZE7, Q8IZP3, Q8IZP4, Q8IZP9
    UniProtKB/TrEMBL
    A8K4P7
    Conserved Domains (2) summary
    pfam01825
    Location:569 → 612
    GPS; GPCR proteolysis site, GPS, motif
    cl21561
    Location:625 → 875
    7tm_4; Olfactory receptor

  2. XM_047441758.1 → XP_047297714.1  adhesion G-protein coupled receptor G2 isoform X5

  3. XM_047441757.1 → XP_047297713.1  adhesion G-protein coupled receptor G2 isoform X4

  4. XM_047441756.1 → XP_047297712.1  adhesion G-protein coupled receptor G2 isoform X3

  5. XM_011545434.2 → XP_011543736.1  adhesion G-protein coupled receptor G2 isoform X2

    See identical proteins and their annotated locations for XP_011543736.1

    UniProtKB/Swiss-Prot
    B1AWB3, B1AWB4, B1AWB6, B1AWB7, O00406, Q14CE0, Q8IWT2, Q8IZE4, Q8IZE5, Q8IZE6, Q8IZE7, Q8IZP3, Q8IZP4, Q8IZP9
    UniProtKB/TrEMBL
    A8K4P7
    Conserved Domains (2) summary
    pfam01825
    Location:569 → 612
    GPS; GPCR proteolysis site, GPS, motif
    cl21561
    Location:625 → 875
    7tm_4; Olfactory receptor

  6. XM_011545435.3 → XP_011543737.1  adhesion G-protein coupled receptor G2 isoform X2

    See identical proteins and their annotated locations for XP_011543737.1

    UniProtKB/Swiss-Prot
    B1AWB3, B1AWB4, B1AWB6, B1AWB7, O00406, Q14CE0, Q8IWT2, Q8IZE4, Q8IZE5, Q8IZE6, Q8IZE7, Q8IZP3, Q8IZP4, Q8IZP9
    UniProtKB/TrEMBL
    A8K4P7
    Conserved Domains (2) summary
    pfam01825
    Location:569 → 612
    GPS; GPCR proteolysis site, GPS, motif
    cl21561
    Location:625 → 875
    7tm_4; Olfactory receptor

  7. XM_047441755.1 → XP_047297711.1  adhesion G-protein coupled receptor G2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    18572021..18705687 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326338.1 → XP_054182313.1  adhesion G-protein coupled receptor G2 isoform X2

    UniProtKB/Swiss-Prot
    B1AWB3, B1AWB4, B1AWB6, B1AWB7, O00406, Q14CE0, Q8IWT2, Q8IZE4, Q8IZE5, Q8IZE6, Q8IZE7, Q8IZP3, Q8IZP4, Q8IZP9

  2. XM_054326343.1 → XP_054182318.1  adhesion G-protein coupled receptor G2 isoform X5

  3. XM_054326341.1 → XP_054182316.1  adhesion G-protein coupled receptor G2 isoform X4

  4. XM_054326340.1 → XP_054182315.1  adhesion G-protein coupled receptor G2 isoform X3

  5. XM_054326342.1 → XP_054182317.1  adhesion G-protein coupled receptor G2 isoform X2

    UniProtKB/Swiss-Prot
    B1AWB3, B1AWB4, B1AWB6, B1AWB7, O00406, Q14CE0, Q8IWT2, Q8IZE4, Q8IZE5, Q8IZE6, Q8IZE7, Q8IZP3, Q8IZP4, Q8IZP9

  6. XM_054326339.1 → XP_054182314.1  adhesion G-protein coupled receptor G2 isoform X2

    UniProtKB/Swiss-Prot
    B1AWB3, B1AWB4, B1AWB6, B1AWB7, O00406, Q14CE0, Q8IWT2, Q8IZE4, Q8IZE5, Q8IZE6, Q8IZE7, Q8IZP3, Q8IZP4, Q8IZP9

  7. XM_054326337.1 → XP_054182312.1  adhesion G-protein coupled receptor G2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IZP9.2 GenPept UniProtKB/Swiss-Prot:Q8IZP9

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