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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
    Try the new Gene table
    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