Free for academic non-profit institutions. Other users need a Commercial license
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]
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.
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 | -- |
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 | -- |
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 |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GPR126 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GPR126 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GPR126 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gpr126 30 31 |
|
OneToOne | |
Adgrg6 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Gpr126 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | GPR126 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GPR126 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GPR126 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GPR126 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | gpr126 30 31 |
|
OneToOne | |
Dr.1140 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Cirl 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | lat-2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
lethal congenital contracture syndrome 9 |
|
|
arthrogryposis, distal, type 1a |
|
|
distal arthrogryposis |
|
|
lethal congenital contracture syndrome |
|
|
stature as a quantitative trait |
|
|