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

Gene ID: 57211, updated on 11-Apr-2024

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
NEW
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Try the new Transcript table

Genomic context

Location:
6q24.2
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (142302007..142446261)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (143494208..143638629)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (142623144..142767398)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 1984 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:142468581-142469101 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:142476776-142477403 Neighboring gene Sharpr-MPRA regulatory region 15423 Neighboring gene vesicle trafficking 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:142596514-142597713 Neighboring gene long intergenic non-protein coding RNA 2919 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17614 Neighboring gene Sharpr-MPRA regulatory region 14737 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:142695388-142695989 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:142695947-142697146 Neighboring gene Sharpr-MPRA regulatory regions 3748 and 6738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:142872203-142872704 Neighboring gene uncharacterized LOC153910 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:142898477-142899003 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:142968516-142969102 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:142969103-142969689 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:142970487-142971223 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:142992915-142994114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25178 Neighboring gene MPRA-validated peak6174 silencer Neighboring gene Sharpr-MPRA regulatory region 15083 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25179 Neighboring gene HIVEP zinc finger 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25181 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:143167126-143167819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25183 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25184 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:143206090-143207289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25185 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:143233161-143234017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17615 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17616 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17619 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17620

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 ISS
Inferred from Sequence or Structural Similarity
more info
 
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 cAMP-mediated signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cAMP-mediated signaling 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

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)

NEW Try the new Transcript table

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_011839.2 RefSeqGene

    Range
    5002..149256
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001032394.3NP_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:43146
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam01825
    Location:773818
    GPS; GPCR proteolysis site, GPS, motif
    cd14964
    Location:835860
    7tm_GPCRs; TM helix 1 [structural motif]
    cl22861
    Location:153337
    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:8331101
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  2. NM_001032395.3NP_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:43146
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd15996
    Location:8331101
    7tmB2_GPR126; orphan adhesion receptor GPR126, member of the class B2 family of seven-transmembrane G protein-coupled receptors
    pfam01825
    Location:773818
    GPS; GPCR proteolysis site, GPS, motif
    cl22861
    Location:153337
    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 ...
  3. NM_020455.6NP_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:43146
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd15996
    Location:8611129
    7tmB2_GPR126; orphan adhesion receptor GPR126, member of the class B2 family of seven-transmembrane G protein-coupled receptors
    pfam01825
    Location:801846
    GPS; GPCR proteolysis site, GPS, motif
    cl22861
    Location:153337
    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 ...
  4. NM_198569.3NP_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:43146
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd15996
    Location:8611129
    7tmB2_GPR126; orphan adhesion receptor GPR126, member of the class B2 family of seven-transmembrane G protein-coupled receptors
    pfam01825
    Location:801846
    GPS; GPCR proteolysis site, GPS, motif
    cl22861
    Location:153337
    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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    142302007..142446261
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (4) summary
    cd00041
    Location:44147
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam01825
    Location:802847
    GPS; GPCR proteolysis site, GPS, motif
    cl21561
    Location:8641111
    7tm_4; Olfactory receptor
    cl22861
    Location:154338
    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 ...
  2. XM_006715516.3XP_006715579.1  adhesion G-protein coupled receptor G6 isoform X1

    Conserved Domains (4) summary
    cd00041
    Location:44147
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam01825
    Location:802847
    GPS; GPCR proteolysis site, GPS, motif
    cl21561
    Location:8641111
    7tm_4; Olfactory receptor
    cl22861
    Location:154338
    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 ...
  3. XM_047419106.1XP_047275062.1  adhesion G-protein coupled receptor G6 isoform X9

  4. XM_006715518.3XP_006715581.1  adhesion G-protein coupled receptor G6 isoform X3

    Conserved Domains (4) summary
    cd00041
    Location:44147
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam01825
    Location:774819
    GPS; GPCR proteolysis site, GPS, motif
    cl21561
    Location:8361083
    7tm_4; Olfactory receptor
    cl22861
    Location:154338
    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 ...
  5. XM_017011085.2XP_016866574.1  adhesion G-protein coupled receptor G6 isoform X11

  6. XM_047419103.1XP_047275059.1  adhesion G-protein coupled receptor G6 isoform X6

  7. XM_011535964.2XP_011534266.1  adhesion G-protein coupled receptor G6 isoform X12

    Conserved Domains (4) summary
    cd00041
    Location:43146
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam01825
    Location:801846
    GPS; GPCR proteolysis site, GPS, motif
    cl21561
    Location:8631110
    7tm_4; Olfactory receptor
    cl22861
    Location:153337
    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 ...
  8. XM_047419107.1XP_047275063.1  adhesion G-protein coupled receptor G6 isoform X10

  9. XM_047419102.1XP_047275058.1  adhesion G-protein coupled receptor G6 isoform X5

  10. XM_047419105.1XP_047275061.1  adhesion G-protein coupled receptor G6 isoform X8

  11. XM_006715517.3XP_006715580.1  adhesion G-protein coupled receptor G6 isoform X2

    Conserved Domains (4) summary
    cd00041
    Location:42145
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam01825
    Location:800845
    GPS; GPCR proteolysis site, GPS, motif
    cl21561
    Location:8621109
    7tm_4; Olfactory receptor
    cl22861
    Location:152336
    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 ...
  12. XM_047419104.1XP_047275060.1  adhesion G-protein coupled receptor G6 isoform X7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    143494208..143638629
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355983.1XP_054211958.1  adhesion G-protein coupled receptor G6 isoform X4

  2. XM_054355980.1XP_054211955.1  adhesion G-protein coupled receptor G6 isoform X1

  3. XM_054355988.1XP_054211963.1  adhesion G-protein coupled receptor G6 isoform X9

  4. XM_054355982.1XP_054211957.1  adhesion G-protein coupled receptor G6 isoform X3

  5. XM_054355990.1XP_054211965.1  adhesion G-protein coupled receptor G6 isoform X11

  6. XM_054355985.1XP_054211960.1  adhesion G-protein coupled receptor G6 isoform X6

  7. XM_054355984.1XP_054211959.1  adhesion G-protein coupled receptor G6 isoform X5

  8. XM_054355981.1XP_054211956.1  adhesion G-protein coupled receptor G6 isoform X2

  9. XM_054355989.1XP_054211964.1  adhesion G-protein coupled receptor G6 isoform X10

  10. XM_054355987.1XP_054211962.1  adhesion G-protein coupled receptor G6 isoform X8

  11. XM_054355986.1XP_054211961.1  adhesion G-protein coupled receptor G6 isoform X7

  12. XM_054355991.1XP_054211966.1  adhesion G-protein coupled receptor G6 isoform X12