Human Gene ADGRG6 (ENST00000230173.10_5) from GENCODE V47lift37
  Description: adhesion G protein-coupled receptor G6, transcript variant a1 (from RefSeq NM_020455.6)
Gencode Transcript: ENST00000230173.10_5
Gencode Gene: ENSG00000112414.15_14
Transcript (Including UTRs)
   Position: hg19 chr6:142,622,991-142,767,403 Size: 144,413 Total Exon Count: 26 Strand: +
Coding Region
   Position: hg19 chr6:142,623,467-142,764,519 Size: 141,053 Coding Exon Count: 26 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:142,622,991-142,767,403)mRNA (may differ from genome)Protein (1221 aa)
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-  Comments and Description Text from UniProtKB
  ID: GP126_HUMAN
DESCRIPTION: RecName: Full=G-protein coupled receptor 126; AltName: Full=Developmentally regulated G-protein-coupled receptor; AltName: Full=Vascular inducible G protein-coupled receptor; Flags: Precursor;
FUNCTION: Orphan receptor. May be required for normal differentiation of promyelinating Schwann cells and for normal myelination of axons. Signals probably through G-proteins to transiently elevate cAMP levels (By similarity).
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Note=Detected on the cell surface of activated but not resting umbilical vein.
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.
INDUCTION: Up-regulated by bacterial lipopolysaccharides (LPS) and thrombin, but not by other inflammatory stimuli in primary umbilical veins.
PTM: 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.
POLYMORPHISM: Genetic variations in GPR126 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.
SIMILARITY: Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
SIMILARITY: Contains 1 CUB domain.
SIMILARITY: Contains 1 GPS domain.
SIMILARITY: Contains 1 pentaxin domain.
SEQUENCE CAUTION: Sequence=AAO13250.1; Type=Miscellaneous discrepancy; Note=Sequencing errors; Sequence=BAB55406.1; Type=Erroneous initiation; Sequence=BAC11393.1; Type=Erroneous initiation; Sequence=CAE45930.1; Type=Erroneous initiation; Sequence=CAI20053.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ADGRG6
Diseases sorted by gene-association score: lethal congenital contracture syndrome 9* (1230), arthrogryposis multiplex congenita, distal, type 1* (200), distal arthrogryposis* (165), idiopathic scoliosis (9), scoliosis (3)
* = Manually curated disease association

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.81 RPKM in Liver
Total median expression: 103.20 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -222.00476-0.466 Picture PostScript Text
3' UTR -699.942884-0.243 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008985 - ConA-like_lec_gl_sf
IPR013320 - ConA-like_subgrp
IPR000859 - CUB
IPR017981 - GPCR_2-like
IPR000832 - GPCR_2_secretin-like
IPR017983 - GPCR_2_secretin-like_CS
IPR000203 - GPS_dom
IPR001759 - Pentaxin

Pfam Domains:
PF00002 - 7 transmembrane receptor (Secretin family)
PF00354 - Pentaxin family
PF00431 - CUB domain
PF01825 - GPCR proteolysis site, GPS, motif

SCOP Domains:
81296 - E set domains
49854 - Spermadhesin, CUB domain
49899 - Concanavalin A-like lectins/glucanases
81321 - Family A G protein-coupled receptor-like

ModBase Predicted Comparative 3D Structure on Q86SQ4
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
GO:0004888 transmembrane signaling receptor activity
GO:0004930 G-protein coupled receptor activity
GO:0005518 collagen binding
GO:0043236 laminin binding
GO:0050840 extracellular matrix binding

Biological Process:
GO:0007005 mitochondrion organization
GO:0007165 signal transduction
GO:0007166 cell surface receptor signaling pathway
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway
GO:0014037 Schwann cell differentiation
GO:0019933 cAMP-mediated signaling
GO:0022011 myelination in peripheral nervous system
GO:0042552 myelination
GO:0060347 heart trabecula formation

Cellular Component:
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC075798 - Homo sapiens G protein-coupled receptor 126, mRNA (cDNA clone MGC:87575 IMAGE:30333185), complete cds.
AF216967 - Homo sapiens putative vascular inducible G protein-coupled receptor (VIGR) mRNA, complete cds.
AB183546 - Homo sapiens DREG mRNA for developmentally regulated G-protein-coupled receptor alpha 1, complete cds.
AB183547 - Homo sapiens DREG mRNA for developmentally regulated G-protein-coupled receptor alpha 2, complete cds.
AB183548 - Homo sapiens DREG mRNA for developmentally regulated G-protein-coupled receptor beta 1, complete cds.
AB183549 - Homo sapiens DREG mRNA for developmentally regulated G-protein-coupled receptor beta 2, complete cds.
BX640971 - Homo sapiens mRNA; cDNA DKFZp686O09169 (from clone DKFZp686O09169); complete cds.
BX648315 - Homo sapiens mRNA; cDNA DKFZp686G01170 (from clone DKFZp686G01170).
BX640873 - Homo sapiens mRNA; cDNA DKFZp686N04172 (from clone DKFZp686N04172).
KJ904834 - Synthetic construct Homo sapiens clone ccsbBroadEn_14228 GPR126-like gene, encodes complete protein.
AK092519 - Homo sapiens cDNA FLJ35200 fis, clone PLACE6018187.
AX747581 - Sequence 1106 from Patent EP1308459.
AK027843 - Homo sapiens cDNA FLJ14937 fis, clone PLACE1010231, weakly similar to CELL SURFACE GLYCOPROTEIN EMR1 PRECURSOR.
AY181244 - Homo sapiens G protein-coupled receptor 126 (GPR126) mRNA, complete cds.
AK307543 - Homo sapiens cDNA, FLJ97491.
AK122617 - Homo sapiens cDNA FLJ16029 fis, clone KIDNE2012945, weakly similar to PROCOLLAGEN C-PROTEINASE ENHANCER PROTEIN PRECURSOR.
JD062363 - Sequence 43387 from Patent EP1572962.
AK299785 - Homo sapiens cDNA FLJ54856 complete cds, highly similar to Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.
AK075087 - Homo sapiens cDNA FLJ90606 fis, clone PLACE1001564, highly similar to G protein-coupled receptor 126.
AY426673 - Homo sapiens HBV PreS1-transactivated protein 2 mRNA, complete cds.
BC036008 - Homo sapiens, clone IMAGE:4767605, mRNA.
JD137521 - Sequence 118545 from Patent EP1572962.
JD494891 - Sequence 475915 from Patent EP1572962.
JD130601 - Sequence 111625 from Patent EP1572962.
AL080079 - Homo sapiens mRNA; cDNA DKFZp564D0462 (from clone DKFZp564D0462).
JD023126 - Sequence 4150 from Patent EP1572962.
JD033725 - Sequence 14749 from Patent EP1572962.
JD022254 - Sequence 3278 from Patent EP1572962.
JD036244 - Sequence 17268 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ADGRG6 , AGRG6_HUMAN, DREG, ENST00000230173.1, ENST00000230173.2, ENST00000230173.3, ENST00000230173.4, ENST00000230173.5, ENST00000230173.6, ENST00000230173.7, ENST00000230173.8, ENST00000230173.9, GPR126, NM_020455, Q5TGN7, Q6DHZ4, Q6F3F5, Q6F3F6, Q6F3F7, Q6F3F8, Q6MZU7, Q86SQ4, Q8IXA4, Q8NC14, Q96JW0, uc317dsf.1, VIGR
UCSC ID: ENST00000230173.10_5
RefSeq Accession: NM_020455.6
Protein: Q86SQ4 (aka GP126_HUMAN or G126_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.