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

Gene ID: 57211, updated on 18-Nov-2018

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; 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

Genomic context

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

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
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 TAS
Traceable Author Statement
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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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