• Gene id: 51411

Gene Summary

• Gene Symbol: BIN2   Gene   UCSC   Ensembl
• Aliases: BRAP-1
• Gene name: bridging integrator 2
• Alternate names: bridging integrator 2, breast cancer associated protein BRAP1, breast cancer-associated protein 1,
• Gene location: 12q13.13 (51324667: 51281037)     Exons: 15     NC_000012.12
• OMIM: 605936

Protein Summary

• Protein general information: Q9UBW5  
  • Name: Bridging integrator 2 (Breast cancer associated protein 1)
  • Length: 565  
  • Mass: 61874
  • Tissue specificity: Detected in natural killer cells (at protein level). Highest level expression seen in spleen and peripheral blood leukocytes and is also expressed at high levels in thymus, colon and placenta, suggesting preferential expression in hema
• Sequence:

  MAEGKAGGAAGLFAKQVQKKFSRAQEKVLQKLGKAVETKDERFEQSASNFYQQQAEGHKLYKDLKNFLSAVKVMH
  ESSKRVSETLQEIYSSEWDGHEELKAIVWNNDLLWEDYEEKLADQAVRTMEIYVAQFSEIKERIAKRGRKLVDYD
  SARHHLEAVQNAKKKDEAKTAKAEEEFNKAQTVFEDLNQELLEELPILYNSRIGCYVTIFQNISNLRDVFYREMS
  KLNHNLYEVMSKLEKQHSNKVFVVKGLSSSSRRSLVISPPVRTATVSSPLTSPTSPSTLSLKSESESVSATEDLA
  PDAAQGEDNSEIKELLEEEEIEKEGSEASSSEEDEPLPACNGPAQAQPSPTTERAKSQEEVLPSSTTPSPGGALS
  PSGQPSSSATEVVLRTRTASEGSEQPKKRASIQRTSAPPSRPPPPRATASPRPSSGNIPSSPTASGGGSPTSPRA
  SLGTGTASPRTSLEVSPNPEPPEKPVRTPEAKENENIHNQNPEELCTSPTLMTSQVASEPGEAKKMEDKEKDNKL
  ISANSSEGQDQLQVSMVPENNNLTAPEPQEEVSTSENPQL

• Structural information:
  • Protein Domains: (28..24-)
    (/note="BAR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00361"-)
  • Interpro: IPR027267  IPR003005  IPR004148  
  • Prosite: PS51021
  • PDB: 4AVM 4I1Q
  • PDBsum: 4AVM 4I1Q
  • STRING: ENSP00000267012
• Other Databases: GeneCards:  BIN2  Malacards:  BIN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071800	podosome assembly	IBA	biological process
GO:0002102	podosome	IBA	cellular component
GO:0001891	phagocytic cup	IBA	colocalizes with
GO:0097320	plasma membrane tubulation	IBA	biological process
GO:0006911	phagocytosis, engulfment	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005543	phospholipid binding	IBA	molecular function
GO:0002102	podosome	IDA	cellular component
GO:0001891	phagocytic cup	IDA	colocalizes with
GO:0097320	plasma membrane tubulation	IDA	biological process
GO:0005543	phospholipid binding	IDA	molecular function
GO:0071800	podosome assembly	IMP	biological process
GO:0060326	cell chemotaxis	IMP	biological process
GO:0006911	phagocytosis, engulfment	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005938	cell cortex	IEA	cellular component
GO:0001891	phagocytic cup	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881