Aliases for ADGRG6 Gene
Aliases for ADGRG6 Gene
External Ids for ADGRG6 Gene
- HGNC: 13841
- Entrez Gene: 57211
- Ensembl: ENSG00000112414
- OMIM: 612243
- UniProtKB: Q86SQ4
Previous HGNC Symbols for ADGRG6 Gene
- GPR126
Summaries 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. Gene Ontology (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).
Additional gene information for ADGRG6 Gene
- Monarch Initiative
- Search for ADGRG6 at DataMed
- Search for ADGRG6 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADGRG6 Gene
Genomics for ADGRG6 Gene
GeneHancer (GH) Regulatory Elements for ADGRG6 Gene
Promoters and enhancers for ADGRG6 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH06J142299 | Promoter/Enhancer | 2.4 | EPDnew Ensembl ENCODE dbSUPER | 650.7 | +2.2 | 2228 | 8.3 | FOXA2 MLX ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 YY1 SLC30A9 | ADGRG6 GC06P142314 | |
| GH06J142371 | Enhancer | 1.4 | Ensembl ENCODE dbSUPER | 17.6 | +73.8 | 73761 | 7.9 | PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF213 | ADGRG6 GC06M142363 LOC153910 | |
| GH06J142329 | Enhancer | 1.3 | Ensembl ENCODE dbSUPER | 17.8 | +29.6 | 29562 | 3.8 | FOXA2 ARID4B DMAP1 ETS1 FOS SP5 ZHX2 PPARG NFIL3 MIER3 | ADGRG6 GC06P142314 GC06M142363 | |
| GH06J142399 | Enhancer | 1.3 | Ensembl ENCODE dbSUPER | 15 | +99.3 | 99253 | 2.7 | HDAC1 ARNT INSM2 MZF1 FEZF1 ZNF2 NCOA2 ZNF335 TCF12 ZNF366 | ADGRG6 VTA1 GC06M142363 LOC153910 | |
| GH06J142412 | Enhancer | 1.2 | Ensembl ENCODE dbSUPER | 16.2 | +113.2 | 113184 | 5.9 | NFIB ZSCAN4 ZNF366 FOS CEBPB SP1 ZNF217 NFIC MTA1 STAT3 | ADGRG6 GC06M142363 LOC153910 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ADGRG6 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for ADGRG6 Gene
Genomic Locations for ADGRG6 Gene
- chr6:142,301,854-142,446,266
- (GRCh38/hg38)
- Size:
- 144,413 bases
- Orientation:
- Plus strand
- chr6:142,622,991-142,767,403
- (GRCh37/hg19)
Genomic View for ADGRG6 Gene
Genes around ADGRG6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6q24.2 by Entrez Gene
- 6q24.2 by HGNC
- 6q24.2 by Ensembl
ADGRG6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for ADGRG6 Gene
Post-translational modifications for ADGRG6 Gene
- 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.
- Highly glycosylated.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for ADGRG6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for ADGRG6
- Invitrogen Antibodies for ADGRG6
- GeneTex ADGRG6 Antibody for ADGRG6
-
Boster Bio Antibodies for ADGRG6
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ADGRG6
- Origene Custom Protein Services for ADGRG6
- Novus Biologicals proteins for ADGRG6
- Search GeneTex for Proteins for ADGRG6
Assay Products
No data available for DME Specific Peptides for ADGRG6 Gene
Domains & Families for ADGRG6 Gene
Gene Families for ADGRG6 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- G-protein coupled receptors
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
- Predicted secreted proteins
Protein Domains for ADGRG6 Gene
Suggested Antigen Peptide Sequences for ADGRG6 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q86SQ4UniProtKB/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.
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.
Phenotypes From GWAS Catalog 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 | TAS,ISS | -- |
| GO:0005518 | collagen binding | ISS | -- |
| GO:0043236 | laminin binding | IEA,ISS | -- |
| GO:0050840 | extracellular matrix binding | ISS | -- |
Phenotypes for ADGRG6 Gene
- MGI mutant phenotypes for ADGRG6:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for ADGRG6:
Animal Models for ADGRG6 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for ADGRG6
- Cyagen custom Knockout/knockin (KOKI) mouse models for ADGRG6
-
CRISPR Products
-
OriGene CRISPR knockouts for ADGRG6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ADGRG6
- Applied Biological Materials CRISPR for ADGRG6
-
Vectors and viruses for KO, Activation, Repression, and more
- GenScript: Design CRISPR guide RNA sequences for ADGRG6
miRNA for ADGRG6 Gene
- miRTarBase miRNAs that target ADGRG6
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ADGRG6
- Browse OriGene Inhibitory RNA Products For ADGRG6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADGRG6
Clone Products
- VectorBuilder custom plasmid, inducible vectors for ADGRG6
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ADGRG6
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ADGRG6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ADGRG6
- genomics-online: cdna clones - Search results for 66 available G Protein-Coupled Receptor 126 gene related products
- Overview of 66 available G Protein-Coupled Receptor 126 gene related products
- orf clones - Search results for 66 available G Protein-Coupled Receptor 126 gene related products
- Overview of 66 available G Protein-Coupled Receptor 126 gene related products
- Applied Biological Materials Clones for ADGRG6
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for ADGRG6 (VIGR/GPR126)
Cell Line Products
- ESI BIO PureStem 4D20.8, NCr-fac Progenitor for ADGRG6
-
Horizon Cell Lines for ADGRG6
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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005622 | intracellular | IEA | -- |
| GO:0005886 | plasma membrane | IEA,IDA | 24227709 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA,TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ADGRG6 Gene
Pathways & Interactions for ADGRG6 Gene
No Data Available
Interacting Proteins for ADGRG6 Gene
GPS-Prot Interaction Network for ADGRG6
| 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:0007189 | adenylate cyclase-activating G-protein coupled receptor signaling pathway | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for ADGRG6 Gene
Transcripts for ADGRG6 Gene
mRNA/cDNA for ADGRG6 Gene
- (145) Selected AceView cDNA sequences:
- (10) REFSEQ mRNAs :
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000230173 7026 bps (uc010khc.4)
- ENST00000296932 6849 bps (uc010khd.4)
- ENST00000367608 6879 bps (uc010khf.4)
- ENST00000367609 6887 bps (uc010khe.4)
- ENST00000415128 1610 bps (uc063rxy.1)
CRISPR Products
-
OriGene CRISPR knockouts for ADGRG6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ADGRG6
- Applied Biological Materials CRISPR for ADGRG6
-
Vectors and viruses for KO, Activation, Repression, and more
- GenScript: Design CRISPR guide RNA sequences for ADGRG6
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ADGRG6
- Browse OriGene Inhibitory RNA Products For ADGRG6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADGRG6
Clone Products
- VectorBuilder custom plasmid, inducible vectors for ADGRG6
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ADGRG6
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ADGRG6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ADGRG6
- genomics-online: cdna clones - Search results for 66 available G Protein-Coupled Receptor 126 gene related products
- Overview of 66 available G Protein-Coupled Receptor 126 gene related products
- orf clones - Search results for 66 available G Protein-Coupled Receptor 126 gene related products
- Overview of 66 available G Protein-Coupled Receptor 126 gene related products
- Applied Biological Materials Clones for ADGRG6
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for ADGRG6 (VIGR/GPR126)
| 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: |
Expression for ADGRG6 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Atrioventricular Canal Cells Atrioventricular Canal
- Endocardial Tube Cells Endocardium
- Cushion Mesenchymal Cells Endocardium
- Cardiac Fibroblasts Myocardium
- Mesenchymal Stem Cells (Uncategorized)
- Placenta (Extraembryonic Tissues)
- Inner Cell Mass (Early Embryonic Tissues)
-
Bone (Muscoskeletal System)
- Chondrocytes Zeugopod Epiphyseal End
- Mesenchymal Condensate Cells Zeugopod
-
Cartilage (Muscoskeletal System)
- Chondrocytes Zeugopod Epiphyseal End
- Mesenchymal Condensate Cells Zeugopod
- Gonad
- Umbilical Cord (Extraembryonic Tissues)
- NULL (Uncategorized)
- Brain (Nervous System)
- Spinal Cord (Nervous System)
-
Peripheral Nervous System (Nervous System)
- Immature Schwann Cells Peripheral Nerve Domain
-
Kidney (Urinary System)
- Ureteric Bud Tip Cells Ureteric Bud
-
Fibroblasts
- Cardiac Fibroblasts Myocardium
-
Limb (Muscoskeletal System)
- Mesenchymal Condensate Cells Zeugopod
- Neural Crest (Gastrulation Derivatives)
- Oligodendrocytes (Nervous System)
- Germ Cells (Reproductive System)
- Adipose (Muscoskeletal System)
- Glial Cells (Uncategorized)
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, MaxQB, and MOPED for ADGRG6 Gene
NURSA nuclear receptor signaling pathways regulating expression of ADGRG6 Gene:
ADGRG6mRNA 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
Regions:
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
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | GPR126 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | GPR126 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | GPR126 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Gpr126 34 33 |
|
OneToOne | |
| Adgrg6 16 |
|
||||
| rat (Rattus norvegicus) |
Mammalia | Gpr126 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | GPR126 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | GPR126 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | GPR126 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | GPR126 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | gpr126 34 33 |
|
OneToOne | |
| Dr.1140 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Cirl 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | lat-2 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for ADGRG6: view image
Paralogs for ADGRG6 Gene
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.
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs749355583 | pathogenic, Arthrogryposis multiplex congenita, Lethal congenital contracture syndrome 9 | 142,309,560(+) | C/G/T | coding_sequence_variant, missense_variant, stop_gained | |
| rs793888524 | pathogenic, Arthrogryposis multiplex congenita, Lethal congenital contracture syndrome 9 | 142,405,703(+) | GG/GGG | coding_sequence_variant, frameshift | |
| rs793888525 | pathogenic, Arthrogryposis multiplex congenita, Lethal congenital contracture syndrome 9, Lethal congenital contracture syndrome 9 (LCCS9) [MIM:616503] | 142,408,187(+) | T/A | coding_sequence_variant, missense_variant | |
| VAR_075146 | Lethal congenital contracture syndrome 9 (LCCS9) [MIM:616503] | p.Val741Glu | |||
| rs111589388 | likely-benign, not provided | 142,370,518(+) | G/C | coding_sequence_variant, missense_variant |
| 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 |
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)
Additional Variant Information for ADGRG6 Gene
SNP Genotyping and Copy Number Assay Products
Disorders for ADGRG6 Gene
(6) MalaCards diseases for ADGRG6 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| lethal congenital contracture syndrome 9 |
|
|
| distal arthrogryposis |
|
|
| stature as a quantitative trait |
|
|
| idiopathic scoliosis |
|
|
| pectus excavatum |
|
|
Search ADGRG6 in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for ADGRG6
No data available for Genatlas for ADGRG6 Gene
Publications for ADGRG6 Gene
- VIGR--a novel inducible adhesion family G-protein coupled receptor in endothelial cells. (PMID: 15225624) Stehlik C … Lipp J (FEBS letters 2004) 3 4 22 58
- There exist at least 30 human G-protein-coupled receptors with long Ser/Thr-rich N-termini. (PMID: 12565841) Fredriksson R … Schiöth HB (Biochemical and biophysical research communications 2003) 2 3 4 58
- A Putative Association of a Single Nucleotide Polymorphism in GPR126 with Aggressive Periodontitis in a Japanese Population. (PMID: 27509131) Kitagaki J … Murakami S (PloS one 2016) 3 4 58
- Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita. (PMID: 26004201) Ravenscroft G … Laing NG (American journal of human genetics 2015) 3 4 58
- International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors. (PMID: 25713288) Hamann J … Schiöth HB (Pharmacological reviews 2015) 2 3 58
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