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Aliases for ADGRG6 Gene

Aliases for ADGRG6 Gene

  • Adhesion G Protein-Coupled Receptor G6 2 3 5
  • Developmentally Regulated G-Protein-Coupled Receptor 3 4
  • G-Protein Coupled Receptor 126 3 4
  • GPR126 3 4
  • DREG 3 4
  • VIGR 3 4
  • Vascular-Inducible G Protein-Coupled Receptor 3
  • Vascular Inducible G Protein-Coupled Receptor 4
  • Adhesion G-Protein Coupled Receptor G6 3
  • HBV PreS1-Transactivated Protein 2 3
  • G Protein-Coupled Receptor 126 2
  • PS1TP2 3
  • LCCS9 3
  • PR126 3
  • APG1 3

External Ids for ADGRG6 Gene

Previous HGNC Symbols for ADGRG6 Gene

  • GPR126

Summaries for ADGRG6 Gene

Entrez Gene Summary for ADGRG6 Gene

  • 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]

GeneCards Summary for ADGRG6 Gene

ADGRG6 (Adhesion G Protein-Coupled Receptor G6) is a Protein Coding gene. Diseases associated with ADGRG6 include Lethal Congenital Contracture Syndrome 9 and Distal Arthrogryposis. GO annotations related to this gene include G-protein coupled receptor activity and transmembrane signaling receptor activity. An important paralog of this gene is ADGRG4.

UniProtKB/Swiss-Prot for ADGRG6 Gene

  • G-protein coupled receptor which is activated by type IV collagen, a major constituent of the basement membrane (By similarity). Couples to G(i)-proteins as well as G(s)-proteins (PubMed:24227709). Essential for normal differentiation of promyelinating Schwann cells and for normal myelination of axons (PubMed:24227709). Regulates neural, cardiac and ear development via G-protein- and/or N-terminus-dependent signaling (By similarity). May act as a receptor for PRNP which may promote myelin homeostasis (By similarity).

Gene Wiki entry for ADGRG6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADGRG6 Gene

Genomics for ADGRG6 Gene

Regulatory Elements for ADGRG6 Gene

Enhancers for ADGRG6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G142371 1.6 Ensembl ENCODE dbSUPER 17.6 +73.8 73761 7.9 HNRNPUL1 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ADGRG6 GC06M142363 LOC153910
GH06G142329 1.4 Ensembl ENCODE dbSUPER 17.8 +29.6 29562 3.8 FOXA2 ATF1 ARID4B DMAP1 GATA2 FOS SP5 ZHX2 PPARG MIER3 ADGRG6 GC06P142314 GC06M142363
GH06G142412 1.4 Ensembl ENCODE dbSUPER 16.2 +113.2 113184 5.9 NFIB ZSCAN4 SIN3A GATA2 ZNF366 ZNF416 FOS CEBPB ZNF398 NFIC ADGRG6 GC06M142363 LOC153910
GH06G142399 1.4 Ensembl ENCODE dbSUPER 15 +99.3 99253 2.7 HDAC1 TBL1XR1 ARNT INSM2 FEZF1 ZNF2 TCF12 GATA2 ZNF366 SCRT2 ADGRG6 VTA1 GC06M142363 LOC153910
GH06G142388 1.3 Ensembl ENCODE dbSUPER 15.7 +86.5 86547 0.4 DRAP1 CTCF ZNF146 SAP130 ARID4B CEBPG DNMT3B RAD21 SCRT2 SMC3 ADGRG6 VTA1 GC06M142363 LOC153910
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ADGRG6 on UCSC Golden Path with GeneCards custom track

Promoters for ADGRG6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000204145 646 2600 HNRNPUL1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for ADGRG6 Gene

Chromosome:
6
Start:
142,301,854 bp from pter
End:
142,446,266 bp from pter
Size:
144,413 bases
Orientation:
Plus strand

Genomic View for ADGRG6 Gene

Genes around ADGRG6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADGRG6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADGRG6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADGRG6 Gene

Proteins for ADGRG6 Gene

  • Protein details for ADGRG6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86SQ4-AGRG6_HUMAN
    Recommended name:
    Adhesion G-protein coupled receptor G6
    Protein Accession:
    Q86SQ4
    Secondary Accessions:
    • Q5TGN7
    • Q6DHZ4
    • Q6F3F5
    • Q6F3F6
    • Q6F3F7
    • Q6F3F8
    • Q6MZU7
    • Q8IXA4
    • Q8NC14
    • Q96JW0

    Protein attributes for ADGRG6 Gene

    Size:
    1221 amino acids
    Molecular mass:
    136695 Da
    Quaternary structure:
    • Interacts with Laminin-2; this interaction stabilizes the receptor in an inactive state. Laminin-2 polymerization could facilitate ADGRG6-NTF removal, thereby exposing the tethered agonist to drive myelination. Interacts with PRNP.
    SequenceCaution:
    • Sequence=AAO13250.1; Type=Miscellaneous discrepancy; Note=Sequencing errors.; Evidence={ECO:0000305}; Sequence=BAB55406.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC11393.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAE45930.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAI20053.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for ADGRG6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADGRG6 Gene

Post-translational modifications for ADGRG6 Gene

  • Highly glycosylated.
  • Proteolytically cleaved into 2 conserved sites: one in the GPS domain (S1 site) and the other in the middle of the extracellular domain (S2 site). The proteolytic cleavage at S1 site generates an extracellular subunit and a seven-transmembrane subunit. Furin is involved in the cleavage of the S2 site generating a soluble fragment. Processing at the GPS domain occurred independent of and probably prior to the cleavage at the S2 site. Proteolytic cleavage is required for activation of the receptor.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ADGRG6 Gene

Domains & Families for ADGRG6 Gene

Gene Families for ADGRG6 Gene

Suggested Antigen Peptide Sequences for ADGRG6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86SQ4

UniProtKB/Swiss-Prot:

AGRG6_HUMAN :
  • A short peptide sequence (termed the Stachel sequence) in the C-terminal part of the extra-cellular domain (ECD) functions as a tethered agonist. Upon structural changes within the ECD, e.g. due to extracellular ligand binding or mechanical movements, this intramolecular agonist is exposed to the 7TM domain, triggering G-protein activation.
  • Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily.
Domain:
  • A short peptide sequence (termed the Stachel sequence) in the C-terminal part of the extra-cellular domain (ECD) functions as a tethered agonist. Upon structural changes within the ECD, e.g. due to extracellular ligand binding or mechanical movements, this intramolecular agonist is exposed to the 7TM domain, triggering G-protein activation.
Family:
  • Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily.
genes like me logo Genes that share domains with ADGRG6: view

Function for ADGRG6 Gene

Molecular function for ADGRG6 Gene

UniProtKB/Swiss-Prot Function:
G-protein coupled receptor which is activated by type IV collagen, a major constituent of the basement membrane (By similarity). Couples to G(i)-proteins as well as G(s)-proteins (PubMed:24227709). Essential for normal differentiation of promyelinating Schwann cells and for normal myelination of axons (PubMed:24227709). Regulates neural, cardiac and ear development via G-protein- and/or N-terminus-dependent signaling (By similarity). May act as a receptor for PRNP which may promote myelin homeostasis (By similarity).
UniProtKB/Swiss-Prot Induction:
Up-regulated by bacterial lipopolysaccharides (LPS) and thrombin, but not by other inflammatory stimuli in primary umbilical veins.

Gene Ontology (GO) - Molecular Function for ADGRG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004930 G-protein coupled receptor activity ISS,TAS --
GO:0005518 collagen binding ISS --
GO:0043236 laminin binding ISS,IEA --
GO:0050840 extracellular matrix binding ISS --
genes like me logo Genes that share ontologies with ADGRG6: view
genes like me logo Genes that share phenotypes with ADGRG6: view

Human Phenotype Ontology for ADGRG6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADGRG6 Gene

MGI Knock Outs for ADGRG6:

Animal Model Products

  • Taconic Biosciences Mouse Models for ADGRG6

miRNA for ADGRG6 Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ADGRG6 Gene

Localization for ADGRG6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADGRG6 Gene

Cell membrane; Multi-pass membrane protein. Note=Detected on the cell surface of activated but not resting umbilical vein. {ECO:0000269 PubMed:15225624}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADGRG6 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for ADGRG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane IDA,IEA 24227709
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,TAS --
genes like me logo Genes that share ontologies with ADGRG6: view

Pathways & Interactions for ADGRG6 Gene

SuperPathways for ADGRG6 Gene

No Data Available

Interacting Proteins for ADGRG6 Gene

Gene Ontology (GO) - Biological Process for ADGRG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007005 mitochondrion organization IEA --
GO:0007165 signal transduction IEA --
GO:0007166 cell surface receptor signaling pathway ISS --
GO:0007186 G-protein coupled receptor signaling pathway TAS,ISS --
GO:0010579 positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with ADGRG6: view

No data available for Pathways by source and SIGNOR curated interactions for ADGRG6 Gene

Transcripts for ADGRG6 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for ADGRG6 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: -
SP2: -
SP3: - -
SP4: - -
SP5:
SP6:

ExUns: 24 ^ 25 ^ 26 ^ 27a · 27b
SP1:
SP2: -
SP3:
SP4: -
SP5:
SP6:

Relevant External Links for ADGRG6 Gene

GeneLoc Exon Structure for
ADGRG6
ECgene alternative splicing isoforms for
ADGRG6

Expression for ADGRG6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADGRG6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ADGRG6 Gene

This gene is overexpressed in Pancreatic juice (20.3), Serum (14.6), Plasma (12.3), and Synovial fluid (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ADGRG6 Gene



NURSA nuclear receptor signaling pathways regulating expression of ADGRG6 Gene:

ADGRG6

mRNA Expression by UniProt/SwissProt for ADGRG6 Gene:

Q86SQ4-AGRG6_HUMAN
Tissue specificity: Expressed in placenta and to a lower extent in pancreas and liver. Detected in aortic endothelial cells but not in skin microvascular endothelial cells.

Evidence on tissue expression from TISSUES for ADGRG6 Gene

  • Bone marrow(4)
  • Nervous system(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ADGRG6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeleton
Organs:
Head and neck:
  • cheek
  • chin
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • lung
Pelvis:
  • placenta
  • uterus
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • lower limb
  • toe
  • ulna
  • upper limb
General:
  • skin
genes like me logo Genes that share expression patterns with ADGRG6: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for ADGRG6 Gene

Orthologs for ADGRG6 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADGRG6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GPR126 34 35
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia GPR126 34 35
  • 89.52 (n)
cow
(Bos Taurus)
Mammalia GPR126 34 35
  • 88.13 (n)
mouse
(Mus musculus)
Mammalia Gpr126 34 35
  • 83.3 (n)
Adgrg6 16
rat
(Rattus norvegicus)
Mammalia Gpr126 34
  • 83.21 (n)
oppossum
(Monodelphis domestica)
Mammalia GPR126 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GPR126 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves GPR126 34 35
  • 69.54 (n)
lizard
(Anolis carolinensis)
Reptilia GPR126 35
  • 63 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii gpr126 34 35
  • 56.97 (n)
Dr.1140 34
fruit fly
(Drosophila melanogaster)
Insecta Cirl 35
  • 11 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lat-2 35
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToMany
Species where no ortholog for ADGRG6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ADGRG6 Gene

ENSEMBL:
Gene Tree for ADGRG6 (if available)
TreeFam:
Gene Tree for ADGRG6 (if available)

Paralogs for ADGRG6 Gene

genes like me logo Genes that share paralogs with ADGRG6: view

Variants for ADGRG6 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ADGRG6 Gene

AGRG6_HUMAN-Q86SQ4
Genetic variations in ADGRG6 influences stature as a quantitative trait (STQTL) [MIM:606255]. Adult height is an easily observable and highly heritable complex continuous trait. Because of this, it is a model trait for studying genetic influence on quantitative traits.

Sequence variations from dbSNP and Humsavar for ADGRG6 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs793888525 Pathogenic, Lethal congenital contracture syndrome 9 (LCCS9) [MIM:616503] 142,408,187(+) TTATG(A/T)GATGG reference, missense
VAR_075146 Lethal congenital contracture syndrome 9 (LCCS9) [MIM:616503]
rs749355583 Pathogenic 142,309,560(+) CAGAT(C/G/T)GAATG reference, missense, stop-gained
rs793888524 Pathogenic 142,405,704(+) AGTGG(-/G)ACAAG reference, frameshift-variant
rs879255536 Pathogenic 142,405,782(+) ATTAG(A/T)TAGAA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ADGRG6 Gene

Variant ID Type Subtype PubMed ID
esv1032223 CNV insertion 17803354
esv1241631 CNV insertion 17803354
esv2660246 CNV deletion 23128226
esv275340 CNV gain+loss 21479260
esv3611079 CNV loss 21293372
nsv1029666 CNV gain 25217958
nsv1073591 CNV deletion 25765185
nsv830825 CNV gain 17160897

Variation tolerance for ADGRG6 Gene

Residual Variation Intolerance Score: 88.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.74; 83.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADGRG6 Gene

Human Gene Mutation Database (HGMD)
ADGRG6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADGRG6

Disorders for ADGRG6 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ADGRG6 Gene - From: OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lethal congenital contracture syndrome 9
  • lccs9
distal arthrogryposis
  • arthrogryposis, distal, type 2b
arthrogryposis multiplex congenita, distal, type 1
  • distal arthrogryposis type 1
lethal congenital contracture syndrome
  • lethal congenital contracture syndrome 1
idiopathic scoliosis
  • scoliosis idiopathic
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AGRG6_HUMAN
  • Lethal congenital contracture syndrome 9 (LCCS9) [MIM:616503]: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. {ECO:0000269 PubMed:26004201}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ADGRG6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADGRG6
genes like me logo Genes that share disorders with ADGRG6: view

No data available for Genatlas for ADGRG6 Gene

Publications for ADGRG6 Gene

  1. VIGR -- a novel inducible adhesion family G-protein coupled receptor in endothelial cells. (PMID: 15225624) Stehlik C. … Lipp J. (FEBS Lett. 2004) 3 4 22 64
  2. There exist at least 30 human G-protein-coupled receptors with long Ser/Thr-rich N-termini. (PMID: 12565841) Fredriksson R. … Schioeth H.B. (Biochem. Biophys. Res. Commun. 2003) 2 3 4 64
  3. International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors. (PMID: 25713288) Hamann J. … SchiAPth H.B. (Pharmacol. Rev. 2015) 2 3 64
  4. Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita. (PMID: 26004201) Ravenscroft G. … Laing N.G. (Am. J. Hum. Genet. 2015) 3 4 64
  5. Type IV collagen is an activating ligand for the adhesion G protein-coupled receptor GPR126. (PMID: 25118328) Paavola K.J. … Talbot W.S. (Sci Signal 2014) 2 3 64

Products for ADGRG6 Gene

Sources for ADGRG6 Gene

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