• Gene id: 10458

Gene Summary

• Gene Symbol: BAIAP2   Gene   UCSC   Ensembl
• Aliases: BAP2, FLAF3, IRSP53, WAML
• Gene name: BAR/IMD domain containing adaptor protein 2
• Alternate names: brain-specific angiogenesis inhibitor 1-associated protein 2, BAI1 associated protein 2, IRS-58, IRSp53/58, WASP and MIM like, fas ligand-associated factor 3, insulin receptor substrate of 53 kDa, insulin receptor substrate p53/p58, insulin receptor substrate pro,
• Gene location: 17q25.3 (21476958: 21459019)     Exons: 9     NC_000014.9
• Gene summary(Entrez): The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. This adaptor protein links membrane bound G-proteins to cytoplasmic effector proteins. This protein functions as an insulin receptor ty
• OMIM: 605475

Protein Summary

• Protein general information: Q9UQB8  
  • Name: Brain specific angiogenesis inhibitor 1 associated protein 2 (BAI associated protein 2) (BAI1 associated protein 2) (Protein BAP2) (Fas ligand associated factor 3) (FLAF3) (Insulin receptor substrate p53/p58) (IRS 58) (IRSp53/58) (Insulin receptor substra
  • Length: 552  
  • Mass: 60868
  • Tissue specificity: Isoform 1 and isoform 4 are expressed almost exclusively in brain. Isoform 4 is barely detectable in placenta, prostate and testis. A short isoform is ubiquitous, with the highest expression in liver, prostate, testis and placenta. {EC
• Sequence:

  MSLSRSEEMHRLTENVYKTIMEQFNPSLRNFIAMGKNYEKALAGVTYAAKGYFDALVKMGELASESQGSKELGDV
  LFQMAEVHRQIQNQLEEMLKSFHNELLTQLEQKVELDSRYLSAALKKYQTEQRSKGDALDKCQAELKKLRKKSQG
  SKNPQKYSDKELQYIDAISNKQGELENYVSDGYKTALTEERRRFCFLVEKQCAVAKNSAAYHSKGKELLAQKLPL
  WQQACADPSKIPERAVQLMQQVASNGATLPSALSASKSNLVISDPIPGAKPLPVPPELAPFVGRMSAQESTPIMN
  GVTGPDGEDYSPWADRKAAQPKSLSPPQSQSKLSDSYSNTLPVRKSVTPKNSYATTENKTLPRSSSMAAGLERNG
  RMRVKAIFSHAAGDNSTLLSFKEGDLITLLVPEARDGWHYGESEKTKMRGWFPFSYTRVLDSDGSDRLHMSLQQG
  KSSSTGNLLDKDDLAIPPPDYGAASRAFPAQTASGFKQRPYSVAVPAFSQGLDDYGARSMSRNPFAHVQLKPTVT
  NDRCDLSAQGPEGREHGDGSARTLAGR

• Structural information:
  • Protein Domains: (1..25-)
    (/note="IMD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00668-)
    (374..43-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR027267  IPR013606  IPR030128  IPR027681  IPR035594   IPR036028  IPR001452  
  • Prosite: PS51338 PS50002
  • CDD: cd11915
  • PDB: 1WDZ 1Y2O 2YKT 3RNJ 4JS0 6BCR 6BCY 6BD1 6BD2 6BQT
  • PDBsum: 1WDZ 1Y2O 2YKT 3RNJ 4JS0 6BCR 6BCY 6BD1 6BD2 6BQT
  • DIP: 29272
  • STRING: ENSP00000316338
• Other Databases: GeneCards:  BAIAP2  Malacards:  BAIAP2

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:0015629	actin cytoskeleton	IDA	colocalizes with
GO:0005829	cytosol	IDA	cellular component
GO:0070064	proline-rich region binding	IDA	molecular function
GO:0009617	response to bacterium	IMP	biological process
GO:0008360	regulation of cell shape	ISS	biological process
GO:0051764	actin crosslink formation	ISS	biological process
GO:0051017	actin filament bundle assembly	ISS	biological process
GO:0032956	regulation of actin cytoskeleton organization	IMP	biological process
GO:0007009	plasma membrane organization	IEA	biological process
GO:0008093	cytoskeletal anchor activity	IEA	molecular function
GO:0032956	regulation of actin cytoskeleton organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008093	cytoskeletal anchor activity	TAS	molecular function
GO:0008022	protein C-terminus binding	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007409	axonogenesis	TAS	biological process
GO:0008286	insulin receptor signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS	biological process
GO:0048010	vascular endothelial growth factor receptor signaling pathway	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008360	regulation of cell shape	IEA	biological process
GO:0016358	dendrite development	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0048167	regulation of synaptic plasticity	IEA	biological process
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0099564	modification of synaptic structure, modulating synaptic transmission	IEA	biological process
GO:0001221	transcription cofactor binding	IEA	molecular function
GO:0005791	rough endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0030141	secretory granule	IEA	cellular component
GO:0061003	positive regulation of dendritic spine morphogenesis	IEA	biological process
GO:0061845	neuron projection branch point	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0099092	postsynaptic density, intracellular component	IEA	cellular component
GO:0099523	presynaptic cytosol	IEA	cellular component
GO:1905232	cellular response to L-glutamate	IEA	biological process
GO:2000463	positive regulation of excitatory postsynaptic potential	IEA	biological process
GO:0050804	modulation of chemical synaptic transmission	IEA	biological process
GO:0051017	actin filament bundle assembly	IEA	biological process
GO:0051764	actin crosslink formation	IEA	biological process
GO:0005874	microtubule	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007420	brain development	IEA	biological process
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0030165	PDZ domain binding	IEA	molecular function
GO:0030182	neuron differentiation	IEA	biological process
GO:0035418	protein localization to synapse	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0043198	dendritic shaft	IEA	cellular component
GO:0044306	neuron projection terminus	IEA	cellular component
GO:0060076	excitatory synapse	IEA	cellular component
GO:0061846	dendritic spine cytoplasm	IEA	cellular component
GO:0071364	cellular response to epidermal growth factor stimulus	IEA	biological process
GO:0097060	synaptic membrane	IEA	cellular component
GO:0097110	scaffold protein binding	IEA	molecular function
GO:0098793	presynapse	IEA	cellular component
GO:0099524	postsynaptic cytosol	IEA	cellular component
GO:1905274	regulation of modification of postsynaptic actin cytoskeleton	IEA	biological process
GO:0098641	cadherin binding involved in cell-cell adhesion	HDA	molecular function
GO:0005912	adherens junction	HDA	cellular component
GO:0030175	filopodium	IEA	cellular component
GO:0001726	ruffle	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04810	Regulation of actin cytoskeleton
hsa05130	Pathogenic Escherichia coli infection
hsa05135	Yersinia infection
hsa04520	Adherens junction

Diseases

Associated diseases	References
Autism spectrum disorder	PMID:20888579
Alzheimer's disease	PMID:23537733
Attention deficit hyperactivity disorder	PMID:24377651
Gilles de la Tourette syndrome	PMID:15303240
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray