ADGRG6

Protein identityUniProt · HPA

UniProt accession

Q86SQ4

Gene

ADGRG6

Ensembl

ENSG00000112414

Chromosome

6

Canonical length

1221 aa

Protein class

Disease related genes, G-protein coupled receptors, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI 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. [provided by RefSeq, Mar 2009]

Canonical amino-acid sequenceUniProt

1221 residues, UniProt reviewed canonical sequence.

>Q86SQ4|ADGRG6
     1  MMFRSDRMWS CHWKWKPSPL LFLFALYIMC VPHSVWGCAN CRVVLSNPSG TFTSPCYPND
    61  YPNSQACMWT LRAPTGYIIQ ITFNDFDIEE APNCIYDSLS LDNGESQTKF CGATAKGLSF
   121  NSSANEMHVS FSSDFSIQKK GFNASYIRVA VSLRNQKVIL PQTSDAYQVS VAKSISIPEL
   181  SAFTLCFEAT KVGHEDSDWT AFSYSNASFT QLLSFGKAKS GYFLSISDSK CLLNNALPVK
   241  EKEDIFAESF EQLCLVWNNS LGSIGVNFKR NYETVPCDST ISKVIPGNGK LLLGSNQNEI
   301  VSLKGDIYNF RLWNFTMNAK ILSNLSCNVK GNVVDWQNDF WNIPNLALKA ESNLSCGSYL
   361  IPLPAAELAS CADLGTLCQA TVNSPSTTPP TVTTNMPVTN RIDKQRNDGI IYRISVVIQN
   421  ILRHPEVKVQ SKVAEWLNST FQNWNYTVYV VNISFHLSAG EDKIKVKRSL EDEPRLVLWA
   481  LLVYNATNNT NLEGKIIQQK LLKNNESLDE GLRLHTVNVR QLGHCLAMEE PKGYYWPSIQ
   541  PSEYVLPCPD KPGFSASRIC FYNATNPLVT YWGPVDISNC LKEANEVANQ ILNLTADGQN
   601  LTSANITNIV EQVKRIVNKE ENIDITLGST LMNIFSNILS SSDSDLLESS SEALKTIDEL
   661  AFKIDLNSTS HVNITTRNLA LSVSSLLPGT NAISNFSIGL PSNNESYFQM DFESGQVDPL
   721  ASVILPPNLL ENLSPEDSVL VRRAQFTFFN KTGLFQDVGP QRKTLVSYVM ACSIGNITIQ
   781  NLKDPVQIKI KHTRTQEVHH PICAFWDLNK NKSFGGWNTS GCVAHRDSDA SETVCLCNHF
   841  THFGVLMDLP RSASQLDARN TKVLTFISYI GCGISAIFSA ATLLTYVAFE KLRRDYPSKI
   901  LMNLSTALLF LNLLFLLDGW ITSFNVDGLC IAVAVLLHFF LLATFTWMGL EAIHMYIALV
   961  KVFNTYIRRY ILKFCIIGWG LPALVVSVVL ASRNNNEVYG KESYGKEKGD EFCWIQDPVI
  1021  FYVTCAGYFG VMFFLNIAMF IVVMVQICGR NGKRSNRTLR EEVLRNLRSV VSLTFLLGMT
  1081  WGFAFFAWGP LNIPFMYLFS IFNSLQGLFI FIFHCAMKEN VQKQWRQHLC CGRFRLADNS
  1141  DWSKTATNII KKSSDNLGKS LSSSSIGSNS TYLTSKSKSS STTYFKRNSH TDNVSYEHSF
  1201  NKSGSLRQCF HGQVLVKTGP C

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ADGRG6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

7

Mean surface accessibility (rSASA)

0.34

Highest tissue expression

67 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ADGRG6.

Disease | AllUniProt

Conditions ADGRG6 is implicated in, by any mechanism.

• Lethal congenital contracture syndrome 9 (LCCS9) MIM:616503

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 268 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Lethal congenital contracture syndrome 9
• Arthrogryposis multiplex congenita

Disease | ImmuneIEDB

Conditions an epitope on ADGRG6 was assayed in.

• narcolepsy B cell
• multiple sclerosis B cell
• peripheral nervous system disease B cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.47

gnomAD pLI

0

DepMap mean gene effect

0.23

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• adenylate cyclase-activating G protein-coupled receptor signaling pathway
• adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway
• adenylate cyclase-modulating G protein-coupled receptor signaling pathway
• cartilage development
• cell surface receptor signaling pathway
• establishment of blood-brain barrier
• G protein-coupled receptor signaling pathway
• heart trabecula formation
• myelination
• myelination in peripheral nervous system
• nervous system development
• placenta development
• regulation of bone mineralization
• regulation of sprouting angiogenesis
• Schwann cell differentiation

Molecular functions

• collagen binding
• endopeptidase activity
• extracellular matrix binding
• G protein-coupled receptor activity
• laminin binding
• metal ion binding

Cellular components

• cell surface
• cytoplasm
• endoplasmic reticulum membrane
• membrane
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• GPS motif
• GPCR, family 2, secretin-like
• CUB domain
• Pentraxin domain
• Concanavalin A-like lectin/glucanase domain superfamily
• GPCR, family 2-like, 7TM
• GPCR, family 2, secretin-like, conserved site
• Spermadhesin, CUB domain superfamily
• GAIN domain superfamily
• GAIN, subdomain B
• Adhesion G-protein coupled receptor G2/6, GAIN domain
• 7 transmembrane receptor (Secretin family)
• Pentaxin family
• CUB domain
• GPCR proteolysis site, GPS, motif
• ADGRG2-like, GAIN domain
• Adhesion GPCR Gpr126, SEA domain
• SEA domain of adhesion GPCR Gpr126

KeywordsUniProt

• Calcium
• Cell membrane
• Cleavage on pair of basic residues
• Disulfide bond
• G-protein coupled receptor
• Glycoprotein
• Membrane
• Metal-binding
• Phosphoprotein
• Receptor
• Signal
• Transducer
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of ADGRG6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ITGB1
• LRP1
• PRNP