ADGRB2 (adhesion G protein-coupled receptor B2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 576
Gene name Adhesion G protein-coupled receptor B2
Gene symbol ADGRB2
Synonyms (NCBI Gene)
BAI2
Chromosome 1
Chromosome location 1p35.2
Summary This gene encodes a a seven-span transmembrane protein that is thought to be a member of the secretin receptor family. The encoded protein is a brain-specific inhibitor of angiogenesis. The mature peptide may be further cleaved into additional products (P
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs778361520 G>A Likely-pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
64
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (64)
miRTarBase ID miRNA Experiments Reference
MIRT753820 hsa-miR-3175 PAR-CLIP 26701625
MIRT753820 hsa-miR-3175 PAR-CLIP 26701625
MIRT753820 hsa-miR-3175 PAR-CLIP 26701625
MIRT753815 hsa-miR-4687-5p PAR-CLIP 26701625
MIRT753815 hsa-miR-4687-5p PAR-CLIP 26701625
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (25)
GO ID Ontology Definition Evidence Reference
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 IEA
GO:0004930 Function G protein-coupled receptor activity IMP 28891236
GO:0004930 Function G protein-coupled receptor activity TAS 15203201
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
602683 944 ENSG00000121753
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60241
Protein name Adhesion G protein-coupled receptor B2 (Brain-specific angiogenesis inhibitor 2)
Protein function Orphan G-protein coupled receptor involved in cell adhesion and probably in cell-cell interactions. Activates NFAT-signaling pathway, a transcription factor, via the G-protein GNAZ (PubMed:20367554, PubMed:28891236). Involved in angiogenesis inh
PDB 8OEK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF19188 AGRB_N 38 → 230 Adhesion GPCR B N-terminal region Family
PF00090 TSP_1 313 → 361 Thrombospondin type 1 domain Domain
PF00090 TSP_1 368 → 416 Thrombospondin type 1 domain Domain
PF00090 TSP_1 424 → 471 Thrombospondin type 1 domain Domain
PF00090 TSP_1 479 → 527 Thrombospondin type 1 domain Domain
PF16489 GAIN 614 → 848 GPCR-Autoproteolysis INducing (GAIN) domain Domain
PF01825 GPS 872 → 917 GPCR proteolysis site, GPS, motif Motif
PF00002 7tm_2 929 → 1198 7 transmembrane receptor (Secretin family) Family
Tissue specificity TISSUE SPECIFICITY: Detected in cerebrospinal fluid (at protein level) (PubMed:25326458). Strongly expressed in brain. Also detected in heart, thymus, skeletal muscle, and different cell lines. {ECO:0000269|PubMed:25326458}.
Sequence 
MENTGWMGKGHRMTPACPLLLSVILSLRLATAFDPAPSACSALASGVLYGAFSLQDLFPT
IASGCSWTLENPDPTKYSLYLRFNRQEQVCAHFAPRLLPLDHYLVNFTCLRPSPEEAVAQ
AESEVGRPEEEEAEAAAGLELCSGSGPFTFLHFDKNFVQLCLSAEPSEAPRLLAPAALAF
RFVEVLLINNNNSSQFTCGVLCRWSEECGRAAGRACGFAQPGCSCPGEAGAGSTTTTSPG
PPAAHTLSNALVPGGPAPPAEADLHSGSSNDLFTTEMRYGEEPEEEPKVKTQWPRSADEP
GLYMAQTGDPAAEEWSPWSVCSLTCGQGLQVRTRSCVSSPYGTLCSGPLRETRPCNNSAT
CPVHGVWEEWGSWSLCSRSCGRGSRSRMRTCVPPQHGGKACEGPELQTKLCSMAACPVEG
QWLEWGPWGPCSTSCANGTQQRSRKCSVAGPAWATCTGALTDTRECSNLECPATDSKWGP
WNAWSLCSKTCDTGWQRRFRMCQATGTQGYPCEGTGEEVKPCSEKRCPAFHEMCRDEYVM
LMTWKKAAAGEIIYNKCPPNASGSASRRCLLSAQGVAYWGLPSFARCISHEYRYLYLSLR
EHLAKGQRMLAGEGMSQVVRSLQELLARRTYYSGDLLFSVDILRNVTDTFKRATYVPSAD
DVQRFFQVVSFMVDAENKEKWDDAQQVSPGSVHLLRVVEDFIHLVGDALKAFQSSLIVTD
NLVISIQREPVSAVSSDITFPMRGRRGMKDWVRHSEDRLFLPKEVLSLSSPGKPATSGAA
GSPGRGRGPGTVPPGPGHSHQRLLPADPDESSYFVIGAVLYRTLGLILPPPRPPLAVTSR
VMTVTVRPPTQPPAEPLITVELSYIINGTTDPHCASWDYSRADASSGDWDTENCQTLETQ
AAHTRCQCQHLSTFAVLAQPPKDLTLELAGSPSVPLVIGCAVSCMALLTLLAIYAAFWRF
IKSERSIILLNFCLSILASNILILVGQSRVLSKGVCTMTAAFLHFFFLSSFCWVLTEAWQ
SYLAVIGRMRTRLVRKRFLCLGWGLPALVVAVSVGFTRTKGYGTSSYCWLSLEGGLLYAF
VGPAAVIVLVNMLIGIIVFNKLMARDGISDKSKKQRAGSERCPWASLLLPCSACGAVPSP
LLSSASARNAMASLWSSCVVLPLLALTWMSAVLAMTDRRSVLFQALFAVFNSAQGFVITA
VHCFLRREVQDVVKCQMGVCRADESEDSPDSCKNGQLQILSDFEKDVDLACQTVLFKEVN
TCNPSTITGTLSRLSLDEDEEPKSCLVGPEGSLSFSPLPGNILVPMAASPGLGEPPPPQE
ANPVYMCGEGGLRQLDLTWLRPTEPGSEGDYMVLPRRTLSLQPGGGGGGGEDAPRARPEG
TPRRAAKTVAHTEGYPSFLSVDHSGLGLGPAYGSLQNPYGMTFQPPPPTPSARQVPEPGE
RSRTMPRTVPGSTMKMGSLERKKLRYSDLDFEKVMHTRKRHSELYHELNQKFHTFDRYRS
QSTAKREKRWSVSSGGAAERSVCTDKPSPGERPSLSQHRRHQSWSTFKSMTLGSLPPKPR
ERLTLHRAAAWEPTEPPDGDFQTEV
Sequence length 1585
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Gene SNPs miRNA Gene ontology Other IDs Protein 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)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Progressive spastic paraparesis Likely pathogenic rs778361520 RCV000577924
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (13)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLAUCOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (6)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Brain Neoplasms Brain Neoplasms BEFREE 15225653
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 19034969 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Cerebral Infarction BEFREE 16412436
★★★★★
★☆☆☆☆
Found in Text Mining only
Fecal Incontinence Bowel incontinence CLINVAR_DG 28891236
★★★★★
★☆☆☆☆
Found in Text Mining only
Nystagmus Nystagmus CLINVAR_DG 28891236
★★★★★
★☆☆☆☆
Found in Text Mining only
Paraparesis Spastic Paraparesis Pubtator 28891236 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only