ADGRA2 (adhesion G protein-coupled receptor A2)

Gene

• Entrez ID: 25960
• Gene name: Adhesion G protein-coupled receptor A2
• Gene symbol: ADGRA2
• Synonyms (NCBI Gene): GPR124, TEM5
• Chromosome: 8
• Chromosome location: 8p11.23

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0002040	Process	Sprouting angiogenesis	IBA
GO:0002040	Process	Sprouting angiogenesis	IEA
GO:0002040	Process	Sprouting angiogenesis	ISS
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	TAS	15203201
GO:0005515	Function	Protein binding	IPI	15021905, 24550280, 32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IBA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	15203201
GO:0007417	Process	Central nervous system development	IBA
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	ISS
GO:0009986	Component	Cell surface	IEA
GO:0010595	Process	Positive regulation of endothelial cell migration	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	15203201
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0030175	Component	Filopodium	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043542	Process	Endothelial cell migration	IEA
GO:0043542	Process	Endothelial cell migration	ISS
GO:0045765	Process	Regulation of angiogenesis	IEA
GO:0045765	Process	Regulation of angiogenesis	ISS
GO:0050920	Process	Regulation of chemotaxis	IEA
GO:0050920	Process	Regulation of chemotaxis	ISS
GO:0060070	Process	Canonical Wnt signaling pathway	IDA	30026314
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0090210	Process	Regulation of establishment of blood-brain barrier	IEA
GO:0090210	Process	Regulation of establishment of blood-brain barrier	ISS
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IBA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IEA
GO:1900747	Process	Negative regulation of vascular endothelial growth factor signaling pathway	IEA
GO:1990909	Component	Wnt signalosome	IBA
GO:1990909	Component	Wnt signalosome	IDA	30026314
GO:1990909	Component	Wnt signalosome	IEA

Other IDs

• MIM: 606823
• HGNC: 17849
• e!Ensembl: ENSG00000020181

Protein

• UniProt ID: Q96PE1
• Protein name: Adhesion G protein-coupled receptor A2 (G-protein coupled receptor 124) (Tumor endothelial marker 5)
• Protein function: Endothelial receptor which functions together with RECK to enable brain endothelial cells to selectively respond to Wnt7 signals (WNT7A or WNT7B) (PubMed:28289266, PubMed:30026314). Plays a key role in Wnt7-specific responses, such as endothelia
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13855	LRR_8	85 → 144	Leucine rich repeat	Repeat
  PF13855	LRR_8	132 → 189	Leucine rich repeat	Repeat
  PF01825	GPS	708 → 752	GPCR proteolysis site, GPS, motif	Motif
  PF00002	7tm_2	772 → 971	7 transmembrane receptor (Secretin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in endothelial cells (at protein level) (PubMed:15021905, PubMed:16982628). Abundantly expressed in heart, placenta, ovary, small intestine, and colon (PubMed:15021905). {ECO:0000269|PubMed:15021905, ECO:0000269|PubMed:169826
• Sequence:

  MGAGGRRMRGAPARLLLPLLPWLLLLLAPEARGAPGCPLSIRSCKCSGERPKGLSGGVPG
  PARRRVVCSGGDLPEPPEPGLLPNGTVTLLLSNNKITGLRNGSFLGLSLLEKLDLRNNII
  STVQPGAFLGLGELKRLDLSNNRIGCLTSETFQGLPRLLRLNISGNIFSSLQPGVFDELP
  ALKVVDLGTEFLTCDCHLRWLLPWAQNRSLQLSEHTLCAYPSALHAQALGSLQEAQLCCE
  GALELHTHHLIPSLRQVVFQGDRLPFQCSASYLGNDTRIRWYHNRAPVEGDEQAGILLAE
  SLIHDCTFITSELTLSHIGVWASGEWECTVSMAQGNASKKVEIVVLETSASYCPAERVAN
  NRGDFRWPRTLAGITAYQSCLQYPFTSVPLGGGAPGTRASRRCDRAGRWEPGDYSHCLYT
  NDITRVLYTFVLMPINASNALTLAHQLRVYTAEAASFSDMMDVVYVAQMIQKFLGYVDQI
  KELVEVMVDMASNLMLVDEHLLWLAQREDKACSRIVGALERIGGAALSPHAQHISVNARN
  VALEAYLIKPHSYVGLTCTAFQRREGGVPGTRPGSPGQNPPPEPEPPADQQLRFRCTTGR
  PNVSLSSFHIKNSVALASIQLPPSLFSSLPAALAPPVPPDCTLQLLVFRNGRLFHSHSNT
  SRPGAAGPGKRRGVATPVIFAGTSGCGVGNLTEPVAVSLRHWAEGAEPVAAWWSQEGPGE
  AGGWTSEGCQLRSSQPNVSALHCQHLGNVAVLMELSAFPREVGGAGAGLHPVVYPCTALL
  LLCLFATIITYILNHSSIRVSRKGWHMLLNLCFHIAMTSAVFAGGITLTNYQMVCQAVGI
  TLHYSSLSTLLWMGVKARVLHKELTWRAPPPQEGDPALPTPSPMLRFYLIAGGIPLIICG
  ITAAVNIHNYRDHSPYCWLVWRPSLGAFYIPVALILLITWIYFLCAGLRLRGPLAQNPKA
  GNSRASLEAGEELRGSTRLRGSGPLLSDSGSLLATGSARVGTPGPPEDGDSLYSPGVQLG
  ALVTTHFLYLAMWACGALAVSQRWLPRVVCSCLYGVAASALGLFVFTHHCARRRDVRASW
  RACCPPASPAAPHAPPRALPAAAEDGSPVFGEGPPSLKSSPSGSSGHPLALGPCKLTNLQ
  LAQSQVCEAGAAAGGEGEPEPAGTRGNLAHRHPNNVHHGRRAHKSRAKGHRAGEACGKNR
  LKALRGGAAGALELLSSESGSLHNSPTDSYLGSSRNSPGAGLQLEGEPMLTPSEGSDTSA
  APLSEAGRAGQRRSASRDSLKGGGALEKESHRRSYPLNAASLNGAPKGGKYDDVTLMGAE
  VASGGCMKTGLWKSETTV

• Sequence length: 1338

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ependymoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOLYTIC ANEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	24582749		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29402834		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29402834		★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	30008912		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	32991049	Associate	★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	28288111		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31352222		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	31695334		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31058365		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31058365	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31058365		★☆☆☆☆ Found in Text Mining only
Hematoma	Hematoma	Pubtator	32991049	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	32991049	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28678544		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26585945		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31352222		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30904492		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24730523		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24582749		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26585945		★☆☆☆☆ Found in Text Mining only