ADGRG6 (adhesion G protein-coupled receptor G6)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57211
Gene name Gene Name - the full gene name approved by the HGNC.
Adhesion G protein-coupled receptor G6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ADGRG6
Synonyms (NCBI Gene) Gene synonyms aliases
APG1, DREG, GPR126, LCCS9, PR126, PS1TP2, VIGR
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LCCS9
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q24.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs749355583 C>G,T Conflicting-interpretations-of-pathogenicity, pathogenic Stop gained, coding sequence variant, missense variant
rs793888524 ->G Pathogenic Frameshift variant, coding sequence variant
rs793888525 T>A,G Pathogenic Missense variant, coding sequence variant
rs1349317802 ->T Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
miRTarBase ID miRNA Experiments Reference
MIRT740247 hsa-miR-4762-5p HITS-CLIP 19536157
MIRT740248 hsa-miR-7158-5p HITS-CLIP 19536157
MIRT740249 hsa-miR-520d-5p HITS-CLIP 19536157
MIRT740250 hsa-miR-524-5p HITS-CLIP 19536157
MIRT740251 hsa-miR-3671 HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(22)
GO ID Ontology Definition Evidence Reference
GO:0004930 Function G protein-coupled receptor activity IBA 21873635
GO:0004930 Function G protein-coupled receptor activity IMP 24227709
GO:0004930 Function G protein-coupled receptor activity ISS
GO:0005518 Function Collagen binding ISS
GO:0005737 Component Cytoplasm IDA 15189448
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612243 13841 ENSG00000112414
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q86SQ4
Protein name Adhesion G-protein coupled receptor G6 (Developmentally regulated G-protein-coupled receptor) (G-protein coupled receptor 126) (Vascular inducible G protein-coupled receptor) [Cleaved into: Adhesion G-protein coupled receptor G6, N-terminal fragment (ADGR
Protein function Adhesion G-protein coupled receptor (aGPCR) for steroid hormones, such as progesterone and 17alpha-hydroxyprogesterone (17OHP) (PubMed:35394864, PubMed:39884271). Involved in many biological processes, such as myelination, sprouting angiogenesis
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00431 CUB 41 → 146 CUB domain Domain
PF00354 Pentaxin 157 → 348 Pentaxin family Domain
PF01825 GPS 801 → 846 GPCR proteolysis site, GPS, motif Motif
PF00002 7tm_2 861 → 1110 7 transmembrane receptor (Secretin family) Family
Tissue specificity 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. {ECO:0000269|PubMed:15225624}.
Sequence 
MMFRSDRMWSCHWKWKPSPLLFLFALYIMCVPHSVWGCANCRVVLSNPSGTFTSPCYPND
YPNSQACMWTLRAPTGYIIQITFNDFDIEEAPNCIYDSLSLDNGESQTKFCGATAKGLSF
NSSANEMHVSFSSDFSIQKKGFNASYIRVAVSLRNQKVILPQTSDAYQVSVAKSISIPEL
SAFTLCFEATKVGHEDSDWTAFSYSNASFTQLLSFGKAKSGYFLSISDSKCLLNNALPVK
EKEDIFAESFEQLCLVWNNSLGSIGVNFKRNYETVPCDSTISKVIPGNGKLLLGSNQNEI
VSLKGDIYNFRLWNFTMNAKILSNLSCNVKGNVVDWQNDFWNIPNLALKAESNLSCGSYL
IPLPAAELASCADLGTLCQATVNSPSTTPPTVTTNMPVTNRIDKQRNDGIIYRISVVIQN
ILRHPEVKVQSKVAEWLNSTFQNWNYTVYVVNISFHLSAGEDKIKVKRSLEDEPRLVLWA
LLVYNATNNTNLEGKIIQQKLLKNNESLDEGLRLHTVNVRQLGHCLAMEEPKGYYWPSIQ
PSEYVLPCPDKPGFSASRICFYNATNPLVTYWGPVDISNCLKEANEVANQILNLTADGQN
LTSANITNIVEQVKRIVNKEENIDITLGSTLMNIFSNILSSSDSDLLESSSEALKTIDEL
AFKIDLNSTSHVNITTRNLALSVSSLLPGTNAISNFSIGLPSNNESYFQMDFESGQVDPL
ASVILPPNLLENLSPEDSVLVRRAQFTFFNKTGLFQDVGPQRKTLVSYVMACSIGNITIQ
NLKDPVQIKIKHTRTQEVHHPICAFWDLNKNKSFGGWNTSGCVAHRDSDASETVCLCNHF
THFGVLMDLPRSASQLDARNTKVLTFISYIGCGISAIFSAATLLTYVAFEKLRRDYPSKI
LMNLSTALLFLNLLFLLDGWITSFNVDGLCIAVAVLLHFFLLATFTWMGLEAIHMYIALV
KVFNTYIRRYILKFCIIGWGLPALVVSVVLASRNNNEVYGKESYGKEKGDEFCWIQDPVI
FYVTCAGYFGVMFFLNIAMFIVVMVQICGRNGKRSNRTLREEVLRNLRSVVSLTFLLGMT
WGFAFFAWGPLNIPFMYLFSIFNSLQGLFIFIFHCAMKENVQKQWRQHLCCGRFRLADNS
DWSKTATNIIKKSSDNLGKSLSSSSIGSNSTYLTSKSKSSSTTYFKRNSHTDNVSYEHSF
NKSGSLRQCFHGQVLVKTGPC
Sequence length 1221
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    EGR2 and SOX10-mediated initiation of Schwann cell myelination
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835
View all (138 more)
Lethal congenital contracture syndrome LETHAL CONGENITAL CONTRACTURE SYNDROME 9 rs121908315, rs386833693, rs121434407, rs1565859132, rs786204798, rs786204799, rs786204800, rs749355583, rs793888524, rs793888525, rs751050956, rs1555642784, rs746361190, rs886041056, rs764239923
View all (10 more)		 26004201
Myopathy Myopathy rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166
View all (81 more)
Scoliosis Scoliosis, unspecified rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085 23666238
Show/Hide Unknown Diseases (6)
Unknown
Disease term Disease name Evidence References Source
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease 30804561, 30940143, 28166215 ClinVar
Congenital contracture Congenital contracture ClinVar
Pulmonary hypoplasia Congenital hypoplasia of lung ClinVar
Mental retardation intellectual disability GenCC
Show/Hide Text Mining Associations (21)
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 31382924
Aggressive Periodontitis Associate 27509131
Arthrogryposis Associate 26004201, 33820833
Bone Diseases Developmental Associate 33820833
Calcinosis Associate 27509131
Carcinoma Non Small Cell Lung Associate 31382924
Fetal Growth Retardation Associate 30917529
Growth Disorders Associate 37270806
Leukemia Myeloid Acute Associate 27258612
Lung Diseases Associate 20010835, 26635082