ADGRG6 adhesion G protein-coupled receptor G6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADGRG6provided by HGNC
Official Full Name: adhesion G protein-coupled receptor G6provided by HGNC
Primary source: HGNC:HGNC:13841
See related: Ensembl:ENSG00000112414 MIM:612243; AllianceGenome:HGNC:13841
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: APG1; DREG; VIGR; LCCS9; PR126; GPR126; PS1TP2
Summary: This gene, which is upregulated in human umbilical vein endothelial cells, encodes a G protein-coupled receptor. Variations in this gene can affect a person's stature. Multiple transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Mar 2009]
Expression: Broad expression in placenta (RPKM 17.7), liver (RPKM 15.5) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q24.2

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (142302007..142446261)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (143494208..143638629)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (142623144..142767398)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Adhesion G Protein-Coupled Receptor Gpr126 (Adgrg6) Expression Profiling in Diseased Mouse, Rat, and Human Kidneys.
Title: Adhesion G Protein-Coupled Receptor Gpr126 (Adgrg6) Expression Profiling in Diseased Mouse, Rat, and Human Kidneys.
Analysis of GPR126 polymorphisms and their relationship with scoliosis in Marfan syndrome and Marfan-like syndrome in Mexican patients.
Title: Analysis of GPR126 polymorphisms and their relationship with scoliosis in Marfan syndrome and Marfan-like syndrome in Mexican patients.
The COPD GWAS gene ADGRG6 instructs function and injury response in human iPSC-derived type II alveolar epithelial cells.
Title: The COPD GWAS gene ADGRG6 instructs function and injury response in human iPSC-derived type II alveolar epithelial cells.
Adhesion GPCR Gpr126 (Adgrg6) Expression Profiling in Zebrafish, Mouse, and Human Kidney.
Title: Adhesion GPCR Gpr126 (Adgrg6) Expression Profiling in Zebrafish, Mouse, and Human Kidney.
Noncoding SNP at rs1663689 represses ADGRG6 via interchromosomal interaction and reduces lung cancer progression.
Title: Noncoding SNP at rs1663689 represses ADGRG6 via interchromosomal interaction and reduces lung cancer progression.
Progesterone activates GPR126 to promote breast cancer development via the Gi pathway.
Title: Progesterone activates GPR126 to promote breast cancer development via the Gi pathway.
Genomic characterization of the adolescent idiopathic scoliosis-associated transcriptome and regulome.
Title: Genomic characterization of the adolescent idiopathic scoliosis-associated transcriptome and regulome.
Functional genomics of GPR126 in airway smooth muscle and bronchial epithelial cells.
Title: Functional genomics of GPR126 in airway smooth muscle and bronchial epithelial cells.
GPR126 regulates colorectal cancer cell proliferation by mediating HDAC2 and GLI2 expression.
Title: GPR126 regulates colorectal cancer cell proliferation by mediating HDAC2 and GLI2 expression.
A synthetic method to assay adhesion-family G-protein coupled receptors. Determination of the G-protein coupling profile of ADGRG6(GPR126).
Title: A synthetic method to assay adhesion-family G-protein coupled receptors. Determination of the G-protein coupling profile of ADGRG6(GPR126).

Submit: New GeneRIF Correction See all GeneRIFs (38)

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
Lethal congenital contracture syndrome 9 MedGen: C4225303 OMIM: 616503 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of height and body mass index in Australian twin families. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of ten loci associated with height highlights new biological pathways in human growth. EBI GWAS Catalog EBI GWAS CatalogPubMed
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH15839 (e-PCR)
- UniSTS:72225

AFM269zg5 (e-PCR)
- UniSTS:65828

STS-H60843 (e-PCR)
- UniSTS:66121

G32755 (e-PCR)
- UniSTS:117336

D6S1007 (e-PCR)
- UniSTS:58499

SHGC-36626 (e-PCR)
- UniSTS:19336

D6S2436 (e-PCR), detects polymorphism
- UniSTS:26510

WI-14110 (e-PCR)
- UniSTS:82087

RH80673 (e-PCR)
- UniSTS:92591

RH120711 (e-PCR)
- UniSTS:132792

A009P45 (e-PCR)
- UniSTS:7106

STS-N30578 (e-PCR)
- UniSTS:47313

SHGC-112526 (e-PCR)
- UniSTS:168679

RH47174 (e-PCR)
- UniSTS:34792

RH120646 (e-PCR)
- UniSTS:132587

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables G protein-coupled receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables G protein-coupled receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables collagen binding	ISS Inferred from Sequence or Structural Similarity more info
enables endopeptidase activity	TAS Traceable Author Statement more info
enables extracellular matrix binding	ISS Inferred from Sequence or Structural Similarity more info
enables laminin binding	IBA Inferred from Biological aspect of Ancestor more info
enables laminin binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in Schwann cell differentiation	IMP Inferred from Mutant Phenotype 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 adenylate cyclase-modulating G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell surface receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart trabecula formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in myelination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in myelination in peripheral nervous system	IBA Inferred from Biological aspect of Ancestor more info
involved_in myelination in peripheral nervous system	ISS Inferred from Sequence or Structural Similarity more info
involved_in nervous system development	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
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	PubMed

General protein information

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Preferred Names: adhesion G-protein coupled receptor G6

Names: G-protein coupled receptor 126; HBV PreS1-transactivated protein 2; developmentally regulated G-protein-coupled receptor; vascular-inducible G protein-coupled receptor

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_011839.2 RefSeqGene

Range

5002..149256

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001032394.3 → NP_001027566.2 adhesion G-protein coupled receptor G6 isoform alpha 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (a2) lacks an alternate in-frame exon and contains an alternate coding exon in the 3' end of the transcript compared to variant b1, that causes a frameshift. The resulting isoform (alpha 2) is shorter and has a distinct C-terminus compared to isoform beta 1.

Source sequence(s)

AL033377, AL360007

Consensus CDS

CCDS47491.1

Related

ENSP00000296932.8, ENST00000296932.13

Conserved Domains (5) summary

cd00041
Location:43 → 146

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

pfam01825
Location:773 → 818

GPS; GPCR proteolysis site, GPS, motif

cd14964
Location:835 → 860

7tm_GPCRs; TM helix 1 [structural motif]

cl22861
Location:153 → 337

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

cl28897
Location:833 → 1101

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
NM_001032395.3 → NP_001027567.2 adhesion G-protein coupled receptor G6 isoform beta 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (b2) lacks an alternate in-frame exon compared to variant b1. The resulting isoform (beta 2) has the same N- and C-termini but is shorter compared to isoform beta 1.

Source sequence(s)

AL033377, AL360007

Consensus CDS

CCDS55064.1

Related

ENSP00000356580.2, ENST00000367608.6

Conserved Domains (4) summary

cd00041
Location:43 → 146

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd15996
Location:833 → 1101

7tmB2_GPR126; orphan adhesion receptor GPR126, member of the class B2 family of seven-transmembrane G protein-coupled receptors

pfam01825
Location:773 → 818

GPS; GPCR proteolysis site, GPS, motif

cl22861
Location:153 → 337

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
NM_020455.6 → NP_065188.5 adhesion G-protein coupled receptor G6 isoform alpha 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (a1) contains an alternate coding exon in the 3' end of the transcript compared to variant b1, that causes a frameshift. The resulting isoform (alpha 1) is shorter and has a distinct C-terminus compared to isoform beta 1.

Source sequence(s)

AL033377, AL360007

Consensus CDS

CCDS47490.1

UniProtKB/Swiss-Prot

Q5TGN7, Q6DHZ4, Q6F3F5, Q6F3F6, Q6F3F7, Q6F3F8, Q6MZU7, Q86SQ4, Q8IXA4, Q8NC14, Q96JW0

Related

ENSP00000230173.6, ENST00000230173.10

Conserved Domains (4) summary

cd00041
Location:43 → 146

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd15996
Location:861 → 1129

7tmB2_GPR126; orphan adhesion receptor GPR126, member of the class B2 family of seven-transmembrane G protein-coupled receptors

pfam01825
Location:801 → 846

GPS; GPCR proteolysis site, GPS, motif

cl22861
Location:153 → 337

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
NM_198569.3 → NP_940971.2 adhesion G-protein coupled receptor G6 isoform beta 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (b1) encodes the longest isoform (beta 1).

Source sequence(s)

AB183548, AL033377, AL080079

Consensus CDS

CCDS47489.1

Related

ENSP00000356581.3, ENST00000367609.8

Conserved Domains (4) summary

cd00041
Location:43 → 146

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd15996
Location:861 → 1129

7tmB2_GPR126; orphan adhesion receptor GPR126, member of the class B2 family of seven-transmembrane G protein-coupled receptors

pfam01825
Location:801 → 846

GPS; GPCR proteolysis site, GPS, motif

cl22861
Location:153 → 337

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

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

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

142302007..142446261

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005267061.4 → XP_005267118.1 adhesion G-protein coupled receptor G6 isoform X4

Conserved Domains (4) summary

cd00041
Location:44 → 147

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

pfam01825
Location:802 → 847

GPS; GPCR proteolysis site, GPS, motif

cl21561
Location:864 → 1111

7tm_4; Olfactory receptor

cl22861
Location:154 → 338

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
XM_006715516.3 → XP_006715579.1 adhesion G-protein coupled receptor G6 isoform X1

Conserved Domains (4) summary

cd00041
Location:44 → 147

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

pfam01825
Location:802 → 847

GPS; GPCR proteolysis site, GPS, motif

cl21561
Location:864 → 1111

7tm_4; Olfactory receptor

cl22861
Location:154 → 338

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
XM_047419106.1 → XP_047275062.1 adhesion G-protein coupled receptor G6 isoform X9
XM_006715518.3 → XP_006715581.1 adhesion G-protein coupled receptor G6 isoform X3

Conserved Domains (4) summary

cd00041
Location:44 → 147

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

pfam01825
Location:774 → 819

GPS; GPCR proteolysis site, GPS, motif

cl21561
Location:836 → 1083

7tm_4; Olfactory receptor

cl22861
Location:154 → 338

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
XM_017011085.2 → XP_016866574.1 adhesion G-protein coupled receptor G6 isoform X11
XM_047419103.1 → XP_047275059.1 adhesion G-protein coupled receptor G6 isoform X6
XM_011535964.2 → XP_011534266.1 adhesion G-protein coupled receptor G6 isoform X12

Conserved Domains (4) summary

cd00041
Location:43 → 146

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

pfam01825
Location:801 → 846

GPS; GPCR proteolysis site, GPS, motif

cl21561
Location:863 → 1110

7tm_4; Olfactory receptor

cl22861
Location:153 → 337

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
XM_047419107.1 → XP_047275063.1 adhesion G-protein coupled receptor G6 isoform X10
XM_047419102.1 → XP_047275058.1 adhesion G-protein coupled receptor G6 isoform X5
XM_047419105.1 → XP_047275061.1 adhesion G-protein coupled receptor G6 isoform X8
XM_006715517.3 → XP_006715580.1 adhesion G-protein coupled receptor G6 isoform X2

Conserved Domains (4) summary

cd00041
Location:42 → 145

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

pfam01825
Location:800 → 845

GPS; GPCR proteolysis site, GPS, motif

cl21561
Location:862 → 1109

7tm_4; Olfactory receptor

cl22861
Location:152 → 336

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
XM_047419104.1 → XP_047275060.1 adhesion G-protein coupled receptor G6 isoform X7

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

143494208..143638629

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054355983.1 → XP_054211958.1 adhesion G-protein coupled receptor G6 isoform X4
XM_054355980.1 → XP_054211955.1 adhesion G-protein coupled receptor G6 isoform X1
XM_054355988.1 → XP_054211963.1 adhesion G-protein coupled receptor G6 isoform X9
XM_054355982.1 → XP_054211957.1 adhesion G-protein coupled receptor G6 isoform X3
XM_054355990.1 → XP_054211965.1 adhesion G-protein coupled receptor G6 isoform X11
XM_054355985.1 → XP_054211960.1 adhesion G-protein coupled receptor G6 isoform X6
XM_054355984.1 → XP_054211959.1 adhesion G-protein coupled receptor G6 isoform X5
XM_054355981.1 → XP_054211956.1 adhesion G-protein coupled receptor G6 isoform X2
XM_054355989.1 → XP_054211964.1 adhesion G-protein coupled receptor G6 isoform X10
XM_054355987.1 → XP_054211962.1 adhesion G-protein coupled receptor G6 isoform X8
XM_054355986.1 → XP_054211961.1 adhesion G-protein coupled receptor G6 isoform X7
XM_054355991.1 → XP_054211966.1 adhesion G-protein coupled receptor G6 isoform X12