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

Summary

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

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_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-57689 (e-PCR)
- UniSTS:46850

D11S2921 (e-PCR)
- UniSTS:152074

SHGC-155103 (e-PCR)
- UniSTS:185106

491N21_SP6 (e-PCR)
- UniSTS:259354

497J19_SP6 (e-PCR)
- UniSTS:259356

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

DXS7161 (e-PCR)
- UniSTS:43337

GPR64 (e-PCR)
- UniSTS:506548

RH48517 (e-PCR)
- UniSTS:31728

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 more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular exosome	HDA more info	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

NG_021304.1 RefSeqGene

Range

5170..138331

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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
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
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