ADGRG6 Gene (Protein Coding)

Adhesion G Protein-Coupled Receptor G6

GC06P142301
GIFtS:
38
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] See more...

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
  • Adhesion G-Protein Coupled Receptor G6 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
  • HBV PreS1-Transactivated Protein 2 3
  • G Protein-Coupled Receptor 126 2
  • FLJ14937 2
  • PS1TP2 3
  • ADGRG6 5
  • 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 Arthrogryposis, Distal, Type 1A. 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 Summary 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

Additional gene information for ADGRG6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADGRG6 Gene

Genomics for ADGRG6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +2.2 2228 8.3 HNRNPL GATAD2A PRDM10 TFE3 SOX13 NFKBIZ ZNF692 RCOR2 ZNF7 ZHX2 ADGRG6 lnc-NMBR-4 lnc-VTA1-2 HIVEP2
GH06J142326 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 18.5 +29.1 29109 9.3 HNRNPL GATAD2A TFE3 SOX13 RCOR2 ZNF7 FOXA1 RBFOX2 RXRB IRF2 ADGRG6 piR-42491-197 lnc-NMBR-5 HIVEP2
GH06J142371 Enhancer 1.4 Ensembl ENCODE dbSUPER 18.7 +75.8 75789 12.5 GATAD2A PRDM10 ZNF629 REST TFE3 ZNF512 SOX13 NFKBIZ ZNF692 RCOR2 ADGRG6 VTA1 lnc-NMBR-5 piR-41594-049 HIVEP2
GH06J142358 Enhancer 1.1 Ensembl ENCODE dbSUPER 17.9 +58.7 58747 5.2 GATAD2A ATF7 ZNF629 FOXA1 CEBPA MNT SOX13 CEBPB ETS1 SP1 ADGRG6 lnc-NMBR-5 piR-42491-197 HIVEP2
GH06J142412 Enhancer 1.1 Ensembl ENCODE dbSUPER 16.2 +112.9 112930 6.4 ZNF629 ZNF692 ZSCAN4 CTCF SP1 JUND ZXDB CEBPB ZBTB10 CTBP1 ADGRG6 piR-41594-049 lnc-NMBR-5 HIVEP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADGRG6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADGRG6

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)
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 Structure • Gene Density

RefSeq DNA sequence for ADGRG6 Gene

Proteins for ADGRG6 Gene

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  • 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC11393.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAE45930.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ADGRG6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADGRG6 Gene

Protein Expression for ADGRG6 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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.
  • Glycosylation at Asn121, Asn143, Asn206, Asn258, Asn314, Asn324, Asn353, Asn438, Asn445, Asn452, Asn485, Asn488, Asn505, Asn563, Asn593, Asn600, Asn605, Asn667, Asn673, Asn695, Asn704, Asn750, Asn776, Asn811, Asn818, and Asn1169
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • AGRG6_HUMAN (1287)

Other Protein References for ADGRG6 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Protein Domains for ADGRG6 Gene

InterPro:
Blocks:
  • CUB domain
  • G-protein coupled receptors family 2 (secretin-like)
  • Pentaxin
  • GPS domain
ProtoNet:

Suggested Antigen Peptide Sequences for ADGRG6 Gene

GenScript: Design optimal peptide antigens:
  • Vascular inducible G protein-coupled receptor (GP126_HUMAN)

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

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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

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 TAS,ISS --
GO:0005518 collagen binding ISS --
GO:0043236 laminin binding IEA,ISS --
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

CRISPR Products

miRNA for ADGRG6 Gene

miRTarBase miRNAs that target ADGRG6

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADGRG6

Clone 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
extracellular 2
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ADGRG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 15189448
GO:0005886 plasma membrane IEA,IDA 15189448
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0009986 cell surface IDA 15225624
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ADGRG6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ADGRG6 Gene

Pathways & Interactions for ADGRG6 Gene

PathCards logo

SuperPathways for ADGRG6 Gene

No Data Available

Interacting Proteins for ADGRG6 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000356581 Q86SQ4-AGRG6_HUMAN for ADGRG6 Gene via STRING IID

GPS-Prot Interaction Network for ADGRG6

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:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway IEA,IBA 21873635
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

Drugs & Compounds for ADGRG6 Gene

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No Compound Related Data Available

Transcripts for ADGRG6 Gene

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mRNA/cDNA for ADGRG6 Gene

4 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADGRG6

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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

Expression for ADGRG6 Gene

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

mRNA expression in normal human tissues for ADGRG6 Gene
mRNA expression by GTEx 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, MaxQB, and MOPED for ADGRG6 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.3)
  • Nervous system(3.3)
  • Liver(2.5)
  • Skin(2.4)
  • Spleen(2.2)
  • Blood(2.2)
  • Lung(2.1)
  • Heart(2.1)

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
genes like me logo Genes that share expression patterns with ADGRG6: view

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 30 31
  • 99.6 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia GPR126 30 31
  • 89.52 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia GPR126 30 31
  • 88.13 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Gpr126 30 31
  • 83.3 (n)
 OneToOne
Adgrg6 17
Rat
(Rattus norvegicus)
 Mammalia Gpr126 30
  • 83.21 (n)
Oppossum
(Monodelphis domestica)
 Mammalia GPR126 31
  • 80 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia GPR126 31
  • 72 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves GPR126 30 31
  • 69.54 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia GPR126 31
  • 63 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii gpr126 30 31
  • 56.97 (n)
 OneToOne
Dr.1140 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Cirl 31
  • 11 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea lat-2 31
  • 13 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 39 (a)
 OneToMany
Species where no ortholog for ADGRG6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

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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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADGRG6 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
708868 Likely Benign: not provided 142,443,333(+) G/A INTRON_VARIANT
713551 Likely Benign: not provided 142,367,667(+) A/G MISSENSE_VARIANT
715425 Likely Benign: not provided 142,400,479(+) A/G INTRON_VARIANT
718051 Likely Benign: not provided 142,393,887(+) T/C INTRON_VARIANT
718519 Benign: not provided 142,443,363(+) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ADGRG6 Gene

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)

Additional Variant Information 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

(15) MalaCards diseases for ADGRG6 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lethal congenital contracture syndrome 9
  • lccs9
arthrogryposis, distal, type 1a
  • da1a
distal arthrogryposis
  • freeman-sheldon syndrome
lethal congenital contracture syndrome
  • lethal congenital contracture syndrome 1
stature as a quantitative trait
  • stature qtl 1
- 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.

Additional Disease Information for ADGRG6

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 letters 2004) 3 4 23
  2. 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
  3. 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
  4. International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors. (PMID: 25713288) Hamann J … Schiöth HB (Pharmacological reviews 2015) 2 3
  5. Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita. (PMID: 26004201) Ravenscroft G … Laing NG (American journal of human genetics 2015) 3 4

ExternalLinks

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