Gene Gene information from NCBI Gene database.
Entrez ID 10458
Gene name BAR/IMD domain containing adaptor protein 2
Gene symbol BAIAP2
Synonyms (NCBI Gene)
BAP2FLAF3IRSP53WAML
Chromosome 17
Chromosome location 17q25.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
106
miRTarBase ID miRNA Experiments Reference
MIRT037874 hsa-miR-455-3p CLASH 23622248
MIRT815462 hsa-miR-1237 CLIP-seq
MIRT815463 hsa-miR-15a CLIP-seq
MIRT815464 hsa-miR-15b CLIP-seq
MIRT815465 hsa-miR-16 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
74
GO ID Ontology Definition Evidence Reference
GO:0001221 Function Transcription coregulator binding IEA
GO:0001726 Component Ruffle IEA
GO:0005515 Function Protein binding IPI 11130076, 11157984, 11696321, 12598619, 15289329, 16189514, 17003044, 18448434, 19171758, 19460367, 19564905, 19933840, 20936779, 21311754, 21893288, 24076653, 24189400, 24584464, 24658140, 24705354, 25416956, 25519916, 25814554, 26496610, 28514442, 31980649, 32296183, 32814053, 339
GO:0005515 Function Protein binding TAS 10343108
GO:0005654 Component Nucleoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605475 947 ENSG00000175866
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UQB8
Protein name BAR/IMD domain-containing adapter protein 2 (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)
Protein function Adapter protein that links membrane-bound small G-proteins to cytoplasmic effector proteins. Necessary for CDC42-mediated reorganization of the actin cytoskeleton and for RAC1-mediated membrane ruffling. Involved in the regulation of the actin c
PDB 1WDZ , 1Y2O , 2YKT , 3RNJ , 4JS0 , 6BCR , 6BCY , 6BD1 , 6BD2 , 6BQT , 6ZEG , 6ZEI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08397 IMD 17 237 IRSp53/MIM homology domain Family
PF07653 SH3_2 378 435 Variant SH3 domain Domain
Tissue specificity 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
MSLSRSEEMHRLTENVYKTIMEQFNPSLRNFIAMGKNYEKALAGVTYAAKGYFDALVKMG
ELASESQGSKELGDVLFQMAEVHRQIQNQLEEMLKSFHNELLTQLEQKVELDSRYLSAAL
KKYQTEQRSKGDALDKCQAELKKLRKKSQGSKNPQKYSDKELQYIDAISNKQGELENYVS
DGYKTALTEERRRFCFLVEKQCAVAKNSAAYHSKGKELLAQKLPLWQQACADPSKIP
ERA
VQLMQQVASNGATLPSALSASKSNLVISDPIPGAKPLPVPPELAPFVGRMSAQESTPIMN
GVTGPDGEDYSPWADRKAAQPKSLSPPQSQSKLSDSYSNTLPVRKSVTPKNSYATTENKT
LPRSSSMAAGLERNGRMRVKAIFSHAAGDNSTLLSFKEGDLITLLVPEARDGWHYGESEK
TKMRGWFPFSYTRVL
DSDGSDRLHMSLQQGKSSSTGNLLDKDDLAIPPPDYGAASRAFPA
QTASGFKQRPYSVAVPAFSQGLDDYGARSMSRNPFAHVQLKPTVTNDRCDLSAQGPEGRE
HGDGSARTLAGR
Sequence length 552
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Adherens junction
Regulation of actin cytoskeleton
Pathogenic Escherichia coli infection
Yersinia infection
  Regulation of actin dynamics for phagocytic cup formation
VEGFA-VEGFR2 Pathway
RHO GTPases Activate WASPs and WAVEs
FCGR3A-mediated phagocytosis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Attention deficit hyperactivity disorder Uncertain significance rs72634327, rs4072588, rs8073224, rs11664 RCV003239306
RCV003239307
RCV003239308
RCV003239309
Familial cancer of breast Likely benign rs144930503 RCV005902924
Ovarian serous cystadenocarcinoma Likely benign rs144930503 RCV005902925
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Inhibit 23537733
Attention Deficit Disorder with Hyperactivity Associate 24377651, 28938222
Auditory Perceptual Disorders Associate 24377651
Breast Neoplasms Associate 29871690, 33216456
Carcinoma Hepatocellular Stimulate 34616498
Cognition Disorders Associate 37211381
Colorectal Neoplasms Associate 35159257
Depressive Disorder Associate 32681239
Esophageal Squamous Cell Carcinoma Associate 32375686
Hemochromatosis Associate 27285756