• Gene id: 80115

Gene Summary

• Gene Symbol: BAIAP2L2   Gene   UCSC   Ensembl
• Gene name: BAR/IMD domain containing adaptor protein 2 like 2
• Alternate names: brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2, BAI1 associated protein 2 like 2, BAI1-associated protein 2-like protein 2, pinkbar, planar intestinal- and kidney-specific BAR domain protein,
• Gene location: 22q13.1 (38110943: 38084888)     Exons: 19     NC_000022.11
• Gene summary(Entrez): The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSe
• OMIM: 601541

Protein Summary

• Protein general information: Q6UXY1  
  • Name: Brain specific angiogenesis inhibitor 1 associated protein 2 like protein 2 (BAI1 associated protein 2 like protein 2) (Planar intestinal and kidney specific BAR domain protein) (Pinkbar)
  • Length: 529  
  • Mass: 58987
  • Tissue specificity: Expressed in the epithelial layer of the intestine (at protein level). {ECO
• Sequence:

  MAPEMDQFYRSTMAIYKSIMEQFNPALENLVYLGNNYLRAFHALSEAAEVYFSAIQKIGERALQSPTSQILGEIL
  VQMSDTQRHLNSDLEVVVQTFHGGLLQHMEKNTKLDMQFIKDSRQHYELEYRHRAANLEKCMSELWRMERKRDKN
  VREMKESVNRLHAQMQAFVSESQRAAELEEKRRYRFLAEKHLLLSNTFLQFFGRARGMLQNRVLLWKEQSEASRS
  PSRAHSPGLLGPALGPPYPSGRLTPTCLDMPPRPLGEFSSPRSRHGSGSYGTEPDARPASQLEPDRRSLPRTPSA
  SSLYSGSAQSSRSNSFGERPGGGGGARRVRALVSHSEGANHTLLRFSAGDVVEVLVPEAQNGWLYGKLEGSSASG
  WFPEAYVKALEEGPVNPMTPVTPMTSMTSMSPMTPMNPGNELPSRSYPLRGSHSLDDLLDRPGNSIAPSEYWDGQ
  SRSRTPSRVPSRAPSPAPPPLPSSRRSSMGSTAVATDVKKLMSSEQYPPQELFPRGTNPFATVKLRPTITNDRSA
  PLIR

• Structural information:
  • Protein Domains: (1..23-)
    (/note="IMD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00668-)
    (324..38-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR027267  IPR013606  IPR027681  IPR030126  IPR035593   IPR036028  IPR001452  
  • Prosite: PS51338 PS50002
  • CDD: cd11914
  • STRING: ENSP00000371085
• Other Databases: GeneCards:  BAIAP2L2  Malacards:  BAIAP2L2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0005654	nucleoplasm	IBA	cellular component
GO:2000251	positive regulation of actin cytoskeleton reorganization	IBA	biological process
GO:0051764	actin crosslink formation	IBA	biological process
GO:0051017	actin filament bundle assembly	IBA	biological process
GO:0030838	positive regulation of actin filament polymerization	IBA	biological process
GO:0012506	vesicle membrane	IDA	cellular component
GO:0044291	cell-cell contact zone	IDA	cellular component
GO:0061024	membrane organization	ISS	biological process
GO:0005543	phospholipid binding	ISS	molecular function
GO:0007009	plasma membrane organization	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0071439	clathrin complex	IDA	cellular component
GO:0061024	membrane organization	IEA	biological process
GO:0005543	phospholipid binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq