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

    Gene ID: 10149, updated on 28-Oct-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
    mouse all
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    Genomic context

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    See ADGRG2 in Genome Data Viewer
    Location:
    Xp22.13
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (18989307..19122956, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (18572021..18705687, complement)
    RS_2024_09 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 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. Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens. Patat O, et al. Am J Hum Genet, 2016 Aug 4. PMID 27476656, Free PMC Article
    2. Cloning of a human epididymis-specific mRNA, HE6, encoding a novel member of the seven transmembrane-domain receptor superfamily. Osterhoff C, et al. DNA Cell Biol, 1997 Apr. PMID 9150425
    3. Adhesion G Protein-Coupled Receptor G2 Promotes Hepatocellular Carcinoma Progression and Serves as a Neutrophil-Related Prognostic Biomarker. Wu Q, et al. Int J Mol Sci, 2023 Nov 30. PMID 38069309, Free PMC Article
    4. Pathogenic role of ADGRG2 in CBAVD patients replicated in Chinese population. Yang B, et al. Andrology, 2017 Sep. PMID 28805948
    5. X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family. Khan MJ, et al. Sci Rep, 2018 Nov 2. PMID 30389958, Free PMC Article

    See all (26) 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
    		Compare labs

    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_2024_08

    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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