ADGRG6 - adhesion G protein-coupled receptor G6 Gene

Also Known as APG1; DREG; VIGR; LCCS9; PR126; GPR126; PS1TP2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57211

About ADGRG6

Cytogenetic location: 6q24.2 Genomic coordinates (GRCh38): 6:142,302,007-142,446,261 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ADGRG6 Protein Structure

CUB

CUB: CUB domain (41 - 146)

Pentaxin

Pentaxin: Pentaxin family (157 - 341)

GPS

GPS: GPCR proteolysis site, GPS, motif (800 - 847)

7tm_2

7tm_2: 7 transmembrane receptor (Secretin family) (862 - 1110)

  • 0
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  • 1000
  • 1221 a.a.
Protein Preferred Names Protein Names

adhesion G-protein coupled receptor G6

  • G-protein coupled receptor 126

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
  • LCCS9

  • Contracture Syndrome, Lethal, Congenital, Type 9

Distal Arthrogryposis
  • Arthrogryposis Multiplex Congenita

  • Arthrogryposis

  • Congenital Multiple Arthrogryposis

  • Congenital Arthromyodysplasia

  • Fibrous Ankylosis Of Multiple Joints

  • Guerin-Stern Syndrome

  • Guérin-Stern Syndrome

  • Myodystrophia Fetalis Deformans

  • Otto Syndrome

  • Rocher-Sheldon Syndrome

  • Rossi Syndrome

  • Amc

  • Multiple Congenital Arthrogryposis

  • Arthrogryposis Syndrome

  • Arthrogryposis, Distal

  • Distal Arthrogryposis Syndrome

  • Freeman-Sheldon Syndrome

  • Arthrogryposis, Distal, Type 2b

  • Congenital Multiplex Arthrogryposis

  • Amyoplasia Congenita

  • Congenital Amyoplasia

  • Amc - [Arthrogryposis Multiplex Congenita]

Lethal Congenital Contracture Syndrome
  • Lccs

  • Lethal Congenital Contracture Syndrome 1

Polymicrogyria, Bilateral Frontoparietal
  • Bilateral Frontoparietal Polymicrogyria

  • BFPP

  • Cerebellar Ataxia With Neuronal Migration Defect

Celery Allergy
Arthrogryposis, Distal, Type 5
  • Oculomelic Amyoplasia

  • Distal Arthrogryposis Type 5

  • Distal Arthrogryposis Type Iib

  • DA5

  • Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities

  • Daiib

  • Distal Arthrogryposis Type 2b

  • Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome

  • Distal Arthrogryposis With Ophthalmoplegia

  • Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome

  • Arthrogryposis, Distal, Type Iib

  • Da2b

  • Freeman-Sheldon Syndrome Variant

  • Sheldon-Hall Syndrome

  • Arthogryposis With Oculomotor Limitation And Electroretinal Abnormalities

  • Arthrogryposis Ophthalmoplegia Retinopathy

  • Arthrogryposis, Distal, 5

  • Arthrogryposis, Distal, Type 2b

Scoliosis
Combined Oxidative Phosphorylation Deficiency 5
  • COXPD5

  • Hypotonia With Lactic Acidemia And Hyperammonemia

  • Combined Oxidative Phosphorylation Defect Type 5

  • Combined Oxidative Phosphorylation Deficiency, Type 5

Lethal Congenital Contracture Syndrome 2
  • LCCS2

  • Lethal Congenital Contractural Syndrome 2

  • Multiple Contracture Syndrome, Israeli-Bedouin Type

  • Multiple Contracture Syndrome, Israeli Bedouin Type A

  • Multiple Contracture Syndrome, Israeli Bedouin Type

  • Lethal Congenital Contracture Syndrome Type 2

  • Israeli Bedouin Multiple Contracture Syndrome Type A

  • Contracture Syndrome, Lethal, Congenital, Type 2

Vegetable Allergy
Lethal Congenital Contracture Syndrome 4
  • LCCS4

  • Contracture Syndrome, Lethal, Congenital, Type 4

Idiopathic Scoliosis
  • Scoliosis Idiopathic

Vibratory Urticaria
  • Vibratory Angioedema

  • Dermodistortive Urticaria

  • VBU

  • Ddu

  • Angioedema, Vibratory

Usher Syndrome, Type Iic
  • Usher Syndrome Type 2c

  • USH2C

  • Usher Syndrome, Type 2c

  • Usher Syndrome, Type Iic, Gpr98/Pdzd7 Digenic

  • Usher Syndrome Type Iic

  • Usher Syndrome, Type 2c, Gpr98/Pdzd7 Digenic

  • Usher Syndrome 2c

  • Usher'S Syndrome Type 2c

  • Usher Syndrome Type Iic Gpr98/Pdzd7 Digenic

Bone Structure Disease
Demyelinating Polyneuropathy
  • Peripheral Demyelinating Neuropathy

  • Demyelinating Peripheral Neuropathy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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