1. Gene
  2. ADGRG6 - adhesion G protein-coupled receptor G6 Gene

ADGRG6 - adhesion G protein-coupled receptor G6 Gene

Homo sapiens

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

Gene ID: 57211 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables G protein-coupled receptor activity IMP
IMP: Inferred from mutant phenotype
24227709 GOA
Biological Process GO Annotation Evidence Reference 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 Reference 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)

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  • 1221 a.a.
Protein Preferred Names Protein Names

adhesion G-protein coupled receptor G6

G-protein coupled receptor 126

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