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

    Gene ID: 57211, updated on 3-Jun-2018
    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; Vega:OTTHUMG00000015709
    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
    See ADGRG6 in Genome Data Viewer
    Location:
    6q24.2
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (142301919..142446266)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (142623056..142767403)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene neuromedin B receptor Neighboring gene vesicle trafficking 1 Neighboring gene uncharacterized LOC105378032 Neighboring gene Sharpr-MPRA regulatory regions 3748 and 6738 Neighboring gene uncharacterized LOC153910 Neighboring gene human immunodeficiency virus type I enhancer binding protein 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

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

    NHGRI GWAS Catalog

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

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    G-protein alpha-subunit binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    G-protein coupled receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    G-protein coupled receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    G-protein coupled receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    collagen binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    extracellular matrix binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    laminin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    laminin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    G-protein coupled receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Schwann cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    adenylate cyclase-activating G-protein coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    cAMP-mediated signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cAMP-mediated signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell surface receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart trabecula formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    heart trabecula formation IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion organization IEA
    Inferred from Electronic Annotation
    more info
     
    myelination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    myelination in peripheral nervous system IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    myelination in peripheral nervous system ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intracellular IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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_011839.1 RefSeqGene

      Range
      5001..149348
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001032394.2NP_001027566.1  adhesion G-protein coupled receptor G6 isoform alpha 2 precursor

      See identical proteins and their annotated locations for NP_001027566.1

      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)
      AB183546, AL080079, BC075798
      Consensus CDS
      CCDS47491.1
      UniProtKB/Swiss-Prot
      Q86SQ4
      Related
      ENSP00000296932.8, OTTHUMP00000237094, ENST00000296932.12, OTTHUMT00000396688
      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:773818
      GPS; GPCR proteolysis site, GPS, motif
      cl21561
      Location:8351082
      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 ...
    2. NM_001032395.2NP_001027567.1  adhesion G-protein coupled receptor G6 isoform beta 2 precursor

      See identical proteins and their annotated locations for NP_001027567.1

      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)
      AB183546, AL080079, BC075798
      Consensus CDS
      CCDS55064.1
      UniProtKB/Swiss-Prot
      Q86SQ4
      Related
      ENSP00000356580.2, OTTHUMP00000237093, ENST00000367608.6, OTTHUMT00000042489
      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:773818
      GPS; GPCR proteolysis site, GPS, motif
      cl21561
      Location:8351082
      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 ...
    3. NM_020455.5NP_065188.4  adhesion G-protein coupled receptor G6 isoform alpha 1 precursor

      See identical proteins and their annotated locations for NP_065188.4

      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)
      AB183546, AL080079, BC075798
      Consensus CDS
      CCDS47490.1
      UniProtKB/Swiss-Prot
      Q86SQ4
      Related
      ENSP00000230173.6, OTTHUMP00000017320, ENST00000230173.10, OTTHUMT00000042487
      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 ...
    4. NM_198569.2NP_940971.1  adhesion G-protein coupled receptor G6 isoform beta 1 precursor

      See identical proteins and their annotated locations for NP_940971.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b1) encodes the longest isoform (beta 1).
      Source sequence(s)
      AB183546, AL080079, BC075798
      Consensus CDS
      CCDS47489.1
      UniProtKB/Swiss-Prot
      Q86SQ4
      Related
      ENSP00000356581.3, OTTHUMP00000237115, ENST00000367609.7, OTTHUMT00000396706
      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 ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

      Range
      142301919..142446266
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715516.2XP_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 ...
    2. XM_006715518.2XP_006715581.1  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: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 ...
    3. XM_005267061.3XP_005267118.1  adhesion G-protein coupled receptor G6 isoform X5

      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 ...
    4. XM_017011085.1XP_016866574.1  adhesion G-protein coupled receptor G6 isoform X6

    5. XM_011535964.1XP_011534266.1  adhesion G-protein coupled receptor G6 isoform X2

      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 ...
    6. XM_006715517.2XP_006715580.1  adhesion G-protein coupled receptor G6 isoform X3

      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 ...
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