• Gene id: 576

Gene Summary

• Gene Symbol: ADGRB2   Gene   UCSC   Ensembl
• Aliases: BAI2
• Gene name: adhesion G protein-coupled receptor B2
• Alternate names: adhesion G protein-coupled receptor B2, brain-specific angiogenesis inhibitor 2,
• Gene location: 1p35.2 (31764339: 31727104)     Exons: 32     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 300272

SNPs

rs761250416

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000014.9   g.45159190dup
NC_000014.8   g.45628393dup
NG_007417.1   g.28258dup
NM_020937.4   c.1491dup
NM_020937.3   c.1491dup
NM_020937.2   c.1491dup
NM_001308133.2   c.1413dup
NM_001308133.1   c.1413dup
NM_001308134.1   c.1491dup
XM_011537035.3   c.1413dup
XM_011537  

rs144567652

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

NC_000014.9   g.45198718C>A
NC_000014.9   g.45198718C>T
NC_000014.8   g.45667921C>A
NC_000014.8   g.45667921C>T
NG_007417.1   g.67786C>A
NG_007417.1   g.67786C>T
NM_020937.4   c.5791C>A
NM_020937.4   c.5791C>T
NM_020937.3   c.5791C>A
NM_020937.3   c.5791C>T
NM_020937.2  

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: O60241  
  • Name: Adhesion G protein coupled receptor B2 (Brain specific angiogenesis inhibitor 2)
  • Length: 1585  
  • Mass: 172656
  • Tissue specificity: Strongly expressed in brain. Also detected in heart, thymus, skeletal muscle, and different cell lines.
• Sequence:

  MENTGWMGKGHRMTPACPLLLSVILSLRLATAFDPAPSACSALASGVLYGAFSLQDLFPTIASGCSWTLENPDPT
  KYSLYLRFNRQEQVCAHFAPRLLPLDHYLVNFTCLRPSPEEAVAQAESEVGRPEEEEAEAAAGLELCSGSGPFTF
  LHFDKNFVQLCLSAEPSEAPRLLAPAALAFRFVEVLLINNNNSSQFTCGVLCRWSEECGRAAGRACGFAQPGCSC
  PGEAGAGSTTTTSPGPPAAHTLSNALVPGGPAPPAEADLHSGSSNDLFTTEMRYGEEPEEEPKVKTQWPRSADEP
  GLYMAQTGDPAAEEWSPWSVCSLTCGQGLQVRTRSCVSSPYGTLCSGPLRETRPCNNSATCPVHGVWEEWGSWSL
  CSRSCGRGSRSRMRTCVPPQHGGKACEGPELQTKLCSMAACPVEGQWLEWGPWGPCSTSCANGTQQRSRKCSVAG
  PAWATCTGALTDTRECSNLECPATDSKWGPWNAWSLCSKTCDTGWQRRFRMCQATGTQGYPCEGTGEEVKPCSEK
  RCPAFHEMCRDEYVMLMTWKKAAAGEIIYNKCPPNASGSASRRCLLSAQGVAYWGLPSFARCISHEYRYLYLSLR
  EHLAKGQRMLAGEGMSQVVRSLQELLARRTYYSGDLLFSVDILRNVTDTFKRATYVPSADDVQRFFQVVSFMVDA
  ENKEKWDDAQQVSPGSVHLLRVVEDFIHLVGDALKAFQSSLIVTDNLVISIQREPVSAVSSDITFPMRGRRGMKD
  WVRHSEDRLFLPKEVLSLSSPGKPATSGAAGSPGRGRGPGTVPPGPGHSHQRLLPADPDESSYFVIGAVLYRTLG
  LILPPPRPPLAVTSRVMTVTVRPPTQPPAEPLITVELSYIINGTTDPHCASWDYSRADASSGDWDTENCQTLETQ
  AAHTRCQCQHLSTFAVLAQPPKDLTLELAGSPSVPLVIGCAVSCMALLTLLAIYAAFWRFIKSERSIILLNFCLS
  ILASNILILVGQSRVLSKGVCTMTAAFLHFFFLSSFCWVLTEAWQSYLAVIGRMRTRLVRKRFLCLGWGLPALVV
  AVSVGFTRTKGYGTSSYCWLSLEGGLLYAFVGPAAVIVLVNMLIGIIVFNKLMARDGISDKSKKQRAGSERCPWA
  SLLLPCSACGAVPSPLLSSASARNAMASLWSSCVVLPLLALTWMSAVLAMTDRRSVLFQALFAVFNSAQGFVITA
  VHCFLRREVQDVVKCQMGVCRADESEDSPDSCKNGQLQILSDFEKDVDLACQTVLFKEVNTCNPSTITGTLSRLS
  LDEDEEPKSCLVGPEGSLSFSPLPGNILVPMAASPGLGEPPPPQEANPVYMCGEGGLRQLDLTWLRPTEPGSEGD
  YMVLPRRTLSLQPGGGGGGGEDAPRARPEGTPRRAAKTVAHTEGYPSFLSVDHSGLGLGPAYGSLQNPYGMTFQP
  PPPTPSARQVPEPGERSRTMPRTVPGSTMKMGSLERKKLRYSDLDFEKVMHTRKRHSELYHELNQKFHTFDRYRS
  QSTAKREKRWSVSSGGAAERSVCTDKPSPGERPSLSQHRRHQSWSTFKSMTLGSLPPKPRERLTLHRAAAWEPTE
  PPDGDFQTEV

• Structural information:
  • Protein Domains: (309..36-)
    1 (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210-)
    (364..41-)
    2 (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210-)
    (419..47-)
    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
  • STRING: ENSP00000362759
• Other Databases: GeneCards:  ADGRB2  Malacards:  ADGRB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	biological process
GO:0007422	peripheral nervous system development	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0004930	G protein-coupled receptor activity	IBA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0004930	G protein-coupled receptor activity	IMP	molecular function
GO:0033173	calcineurin-NFAT signaling cascade	IMP	biological process
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:0007165	signal transduction	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
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:0007422	peripheral nervous system development	IEA	biological process
GO:0051965	positive regulation of synapse assembly	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	biological process
GO:0007422	peripheral nervous system development	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0004930	G protein-coupled receptor activity	IBA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0004930	G protein-coupled receptor activity	IMP	molecular function
GO:0033173	calcineurin-NFAT signaling cascade	IMP	biological process
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:0007165	signal transduction	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
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:0007422	peripheral nervous system development	IEA	biological process
GO:0051965	positive regulation of synapse assembly	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

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