ADGRG6 - adhesion G protein-coupled receptor G6 Gene
Also Known as APG1; DREG; VIGR; LCCS9; PR126; GPR126; PS1TP2
Species: Homo sapiens
About ADGRG6
This gene has 14 transcripts (splice variants), 209 orthologues, 42 paralogues and is associated with 2 phenotypes. Broad expression in placenta (RPKM 17.7), liver (RPKM 15.5) and 18 other tissues.
Summary
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 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001032394.3 | NP_001027566.2 | adhesion G-protein coupled receptor G6 isoform alpha 2 precursor |
| NM_001032395.3 | NP_001027567.2 | adhesion G-protein coupled receptor G6 isoform beta 2 precursor |
| NM_020455.6 | NP_065188.5 | adhesion G-protein coupled receptor G6 isoform alpha 1 precursor |
| NM_198569.3 | NP_940971.2 | adhesion G-protein coupled receptor G6 isoform beta 1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables G protein-coupled receptor activity |
IMP
IMP: Inferred from mutant phenotype
|
24227709 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in Schwann cell differentiation |
IMP
IMP: Inferred from mutant phenotype
|
24227709 | GOA |
| involved in cAMP-mediated signaling |
IMP
IMP: Inferred from mutant phenotype
|
24227709 | GOA |
| involved in myelination |
IMP
IMP: Inferred from mutant phenotype
|
26004201 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cell surface |
IDA
IDA: Inferred from direct assay
|
15225624 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
15189448 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
15189448 | GOA |
ADGRG6 Protein Structure
CUB: CUB domain (41 - 146)
Pentaxin: Pentaxin family (157 - 341)
GPS: GPCR proteolysis site, GPS, motif (800 - 847)
7tm_2: 7 transmembrane receptor (Secretin family) (862 - 1110)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1221 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
adhesion G-protein coupled receptor G6 |
|
ADGRG6 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P811216 | GPR126 Antibody | WB, IHC-P, ICC/IF | Human, Mouse |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Lethal Congenital Contracture Syndrome 9 |
|
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| Distal Arthrogryposis |
|
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| Lethal Congenital Contracture Syndrome |
|
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| Polymicrogyria, Bilateral Frontoparietal |
|
|
| Celery Allergy |
|
|
| Arthrogryposis, Distal, Type 5 |
|
|
| Scoliosis |
|
|
| Combined Oxidative Phosphorylation Deficiency 5 |
|
|
| Lethal Congenital Contracture Syndrome 2 |
|
|
| Vegetable Allergy |
|
|
| Lethal Congenital Contracture Syndrome 4 |
|
|
| Idiopathic Scoliosis |
|
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| Vibratory Urticaria |
|
|
| Usher Syndrome, Type Iic |
|
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| Bone Structure Disease |
|
|
| Demyelinating Polyneuropathy |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | ADGRG6 | RGD | RGD:1308551 |
| Mus musculus | ADGRG6 | MGD | MGI:1916151 |
| Macaca mulatta | ADGRG6 | VGNC | VGNC:81009 |
| Canis familiaris | ADGRG6 | VGNC | VGNC:37648 |
| Felis catus | ADGRG6 | VGNC | VGNC:102375 |
| Bos taurus | ADGRG6 | VGNC | VGNC:25669 |
| Others | ADGRG6 | NCBI |