• Gene id: 575

Gene Summary

• Gene Symbol: ADGRB1   Gene   UCSC   Ensembl
• Aliases: BAI1, GDAIF
• Gene name: adhesion G protein-coupled receptor B1
• Alternate names: adhesion G protein-coupled receptor B1, brain-specific angiogenesis inhibitor 1,
• Gene location: 8q24.3 (142449648: 142545008)     Exons: 33     NC_000008.11
• Gene summary(Entrez): Angiogenesis is controlled by a local balance between stimulators and inhibitors of new vessel growth and is suppressed under normal physiologic conditions. Angiogenesis has been shown to be essential for growth and metastasis of solid tumors. In order to
• OMIM: 601915

SNPs

rs3817444

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.55509814A>C
NC_000004.12   g.55509814A>G
NC_000004.11   g.56375981A>C
NC_000004.11   g.56375981A>G|SEQ=[A/C/G]|GENE=CLOCK

rs3816183

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.42788579T>C
NC_000002.11   g.43015719T>C
XM_005264230.4   c.109A>G
XM_005264230.1   c.109A>G
XM_011532730.3   c.7A>G
XM_011532729.3   c.109A>G
XM_011532731.3   c.109A>G
NM_012205.3   c.109A>G
NM_012205.2   c.109A>G
XM_017003717.2   c.7A>G
XM_024452774.1  

rs3749474

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.55434518C>T
NC_000004.11   g.56300685C>T
NM_004898.4   c.*897G>A
NM_004898.3   c.*897G>A
XM_011534409.2   c.*897G>A
XM_005265787.2   c.*897G>A
XM_005265787.1   c.*897G>A
XM_011534410.2   c.*897G>A
XM_011534411.2   c.*897G>A
NM_001267843.1   c.*897G>A
XM  

rs1801260

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.55435202A>G
NC_000004.11   g.56301369A>G
NM_004898.4   c.*213T>C
NM_004898.3   c.*213T>C
XM_011534409.2   c.*213T>C
XM_005265787.2   c.*213T>C
XM_005265787.1   c.*213T>C
XM_011534410.2   c.*213T>C
XM_011534411.2   c.*213T>C
NM_001267843.1   c.*213T>C
XM  

rs11932595

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.55457430A>G
NC_000004.12   g.55457430A>T
NC_000004.11   g.56323597A>G
NC_000004.11   g.56323597A>T|SEQ=[A/G/T]|GENE=CLOCK

rs6811520

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.55449011T>C
NC_000004.11   g.56315178T>C|SEQ=[T/C]|GENE=CLOCK
TMEM165   55858

rs6850524

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.55515830C>A
NC_000004.12   g.55515830C>G
NC_000004.12   g.55515830C>T
NC_000004.11   g.56381997C>A
NC_000004.11   g.56381997C>G
NC_000004.11   g.56381997C>T|SEQ=[C/A/G/T]|GENE=CLOCK

rs631357

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.20666326G>A
NC_000001.11   g.20666326G>C
NC_000001.10   g.20992819G>A
NC_000001.10   g.20992819G>C
NG_032064.1   g.219C>T
NG_032064.1   g.219C>G
NM_020816.3   c.2799C>T
NM_020816.3   c.2799C>G
NM_020816.4   c.2799C>T
NM_020816.4   c.2799C>G
NM_020816.2  

Protein Summary

• Protein general information: O14514  
  • Name: Adhesion G protein coupled receptor B1 (Brain specific angiogenesis inhibitor 1) [Cleaved into: Vasculostatin 40 (Vstat40); Vasculostatin 120 (Vstat120)]
  • Length: 1584  
  • Mass: 173501
  • Tissue specificity: Expressed in brain (at protein level) (PubMed
• Sequence:

  MRGQAAAPGPVWILAPLLLLLLLLGRRARAAAGADAGPGPEPCATLVQGKFFGYFSAAAVFPANASRCSWTLRNP
  DPRRYTLYMKVAKAPVPCSGPGRVRTYQFDSFLESTRTYLGVESFDEVLRLCDPSAPLAFLQASKQFLQMRRQQP
  PQHDGLRPRAGPPGPTDDFSVEYLVVGNRNPSRAACQMLCRWLDACLAGSRSSHPCGIMQTPCACLGGEAGGPAA
  GPLAPRGDVCLRDAVAGGPENCLTSLTQDRGGHGATGGWKLWSLWGECTRDCGGGLQTRTRTCLPAPGVEGGGCE
  GVLEEGRQCNREACGPAGRTSSRSQSLRSTDARRREELGDELQQFGFPAPQTGDPAAEEWSPWSVCSSTCGEGWQ
  TRTRFCVSSSYSTQCSGPLREQRLCNNSAVCPVHGAWDEWSPWSLCSSTCGRGFRDRTRTCRPPQFGGNPCEGPE
  KQTKFCNIALCPGRAVDGNWNEWSSWSACSASCSQGRQQRTRECNGPSYGGAECQGHWVETRDCFLQQCPVDGKW
  QAWASWGSCSVTCGAGSQRRERVCSGPFFGGAACQGPQDEYRQCGTQRCPEPHEICDEDNFGAVIWKETPAGEVA
  AVRCPRNATGLILRRCELDEEGIAYWEPPTYIRCVSIDYRNIQMMTREHLAKAQRGLPGEGVSEVIQTLVEISQD
  GTSYSGDLLSTIDVLRNMTEIFRRAYYSPTPGDVQNFVQILSNLLAEENRDKWEEAQLAGPNAKELFRLVEDFVD
  VIGFRMKDLRDAYQVTDNLVLSIHKLPASGATDISFPMKGWRATGDWAKVPEDRVTVSKSVFSTGLTEADEASVF
  VVGTVLYRNLGSFLALQRNTTVLNSKVISVTVKPPPRSLRTPLEIEFAHMYNGTTNQTCILWDETDVPSSSAPPQ
  LGPWSWRGCRTVPLDALRTRCLCDRLSTFAILAQLSADANMEKATLPSVTLIVGCGVSSLTLLMLVIIYVSVWRY
  IRSERSVILINFCLSIISSNALILIGQTQTRNKVVCTLVAAFLHFFFLSSFCWVLTEAWQSYMAVTGHLRNRLIR
  KRFLCLGWGLPALVVAISVGFTKAKGYSTMNYCWLSLEGGLLYAFVGPAAAVVLVNMVIGILVFNKLVSKDGITD
  KKLKERAGASLWSSCVVLPLLALTWMSAVLAVTDRRSALFQILFAVFDSLEGFVIVMVHCILRREVQDAVKCRVV
  DRQEEGNGDSGGSFQNGHAQLMTDFEKDVDLACRSVLNKDIAACRTATITGTLKRPSLPEEEKLKLAHAKGPPTN
  FNSLPANVSKLHLHGSPRYPGGPLPDFPNHSLTLKRDKAPKSSFVGDGDIFKKLDSELSRAQEKALDTSYVILPT
  ATATLRPKPKEEPKYSIHIDQMPQTRLIHLSTAPEASLPARSPPSRQPPSGGPPEAPPAQPPPPPPPPPPPPQQP
  LPPPPNLEPAPPSLGDPGEPAAHPGPSTGPSTKNENVATLSVSSLERRKSRYAELDFEKIMHTRKRHQDMFQDLN
  RKLQHAAEKDKEVLGPDSKPEKQQTPNKRPWESLRKAHGTPTWVKKELEPLQPSPLELRSVEWERSGATIPLVGQ
  DIIDLQTEV

• Structural information:
  • Protein Domains: (261..31-)
    1 (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210-)
    (354..40-)
    2 (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210-)
    (409..46-)
    3 (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-P-)
  • Interpro: IPR032471  IPR017981  IPR008077  IPR036445  IPR001879   IPR000832  IPR000203  IPR000884  IPR036383  
  • Prosite: PS50227 PS50261 PS50221 PS50092
  • DIP: 40884
  • STRING: ENSP00000430945
• Other Databases: GeneCards:  ADGRB1  Malacards:  ADGRB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0014069	postsynaptic density	IBA	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0004930	G protein-coupled receptor activity	IBA	molecular function
GO:0030425	dendrite	IBA	cellular component
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	biological process
GO:0098978	glutamatergic synapse	IBA	cellular component
GO:0043652	engulfment of apoptotic cell	IBA	biological process
GO:0004930	G protein-coupled receptor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016525	negative regulation of angiogenesis	IEA	biological process
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0007166	cell surface receptor signaling pathway	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0006909	phagocytosis	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0007517	muscle organ development	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0005911	cell-cell junction	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0008285	negative regulation of cell population proliferation	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0007409	axonogenesis	TAS	biological process
GO:0007422	peripheral nervous system development	TAS	biological process
GO:0004930	G protein-coupled receptor activity	TAS	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0001530	lipopolysaccharide binding	IEA	molecular function
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0006911	phagocytosis, engulfment	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0030165	PDZ domain binding	IEA	molecular function
GO:0050829	defense response to Gram-negative bacterium	IEA	biological process
GO:0051965	positive regulation of synapse assembly	IEA	biological process
GO:1901741	positive regulation of myoblast fusion	IEA	biological process
GO:0001786	phosphatidylserine binding	IEA	molecular function
GO:0001891	phagocytic cup	IEA	cellular component
GO:0006910	phagocytosis, recognition	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0031397	negative regulation of protein ubiquitination	IEA	biological process
GO:0042177	negative regulation of protein catabolic process	IEA	biological process
GO:0043652	engulfment of apoptotic cell	IEA	biological process
GO:0048167	regulation of synaptic plasticity	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0001891	phagocytic cup	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0010596	negative regulation of endothelial cell migration	IDA	biological process
GO:0016525	negative regulation of angiogenesis	IDA	biological process
GO:0016525	negative regulation of angiogenesis	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0016525	negative regulation of angiogenesis	IDA	biological process
GO:0010596	negative regulation of endothelial cell migration	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:1903428	positive regulation of reactive oxygen species biosynthetic process	IMP	biological process
GO:0043277	apoptotic cell clearance	IMP	biological process
GO:0001530	lipopolysaccharide binding	ISS	molecular function
GO:0014069	postsynaptic density	ISS	cellular component
GO:0005886	plasma membrane	ISS	cellular component
GO:0005925	focal adhesion	ISS	cellular component
GO:0031397	negative regulation of protein ubiquitination	ISS	biological process
GO:0043652	engulfment of apoptotic cell	IMP	biological process
GO:0001891	phagocytic cup	ISS	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0050829	defense response to Gram-negative bacterium	ISS	biological process
GO:1901741	positive regulation of myoblast fusion	ISS	biological process
GO:0048167	regulation of synaptic plasticity	ISS	biological process
GO:0042177	negative regulation of protein catabolic process	ISS	biological process
GO:0006910	phagocytosis, recognition	ISS	biological process
GO:0001786	phosphatidylserine binding	ISS	molecular function
GO:0043652	engulfment of apoptotic cell	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04115	p53 signaling pathway

Diseases

Associated diseases	References
Stomach cancer	PMID:11172604
invasive ductal carcinoma	PMID:25376607
Glioblastoma multiforme	PMID:12507886
Glioblastoma multiforme	PMID:16244591
Astrocytoma	PMID:23761815
pancreatic adenocarcinoma	PMID:11875720
renal cell carcinoma	PMID:21511296
colorectal cancer	PMID:9772287
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray