ADGRG6 (adhesion G protein-coupled receptor G6)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 57211
Gene name Adhesion G protein-coupled receptor G6
Gene symbol ADGRG6
Synonyms (NCBI Gene)
APG1DREGGPR126LCCS9PR126PS1TP2VIGR
Chromosome 6
Chromosome location 6q24.2
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.
SNPs SNP information provided by dbSNP.
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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.
6
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (46)
GO ID Ontology Definition Evidence Reference
GO:0001890 Process Placenta development ISS
GO:0004175 Function Endopeptidase activity TAS
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0004930 Function G protein-coupled receptor activity IBA
GO:0004930 Function G protein-coupled receptor activity IDA 35394864
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612243 13841 ENSG00000112414
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Arthrogryposis multiplex congenita Pathogenic; Likely pathogenic rs749355583, rs793888524, rs793888525 RCV000172977
RCV000172978
RCV000172979
Lethal congenital contracture syndrome 9 Pathogenic; Likely pathogenic rs2115031969, rs749355583, rs793888524, rs793888525, rs2483177661, rs926862737 RCV001839465
RCV000186598
RCV000186599
RCV000186600
RCV003988948
RCV004527244
Show/Hide Unknown Diseases (14)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ADGRG6-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity rs2143390, rs201265247, rs73580458, rs371011778, rs2483528344, rs201373020, rs118084467, rs184235213, rs202040079, rs199640141, rs200367753 RCV003968502
RCV003924019
RCV003951896
RCV003972064
RCV003944494
RCV003936933
RCV003976605
RCV003972895
RCV003910471
RCV003940398
RCV003968268
Cervical cancer Benign rs17280293, rs201497641, rs112638708 RCV005920148
RCV005910354
RCV005910020
Colon adenocarcinoma Benign rs201497641 RCV005910353
Colorectal cancer Benign rs17280293 RCV005920150
Show/Hide Text Mining Associations (21)
Associations from Text MiningDisease associations identified through Pubtator
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