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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder Uncertain significance ClinVar
Disgenet, GWAS catalog
Disgenet, GWAS catalog
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 23537733 Inhibit
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder GWASCAT_DG 29942085
★☆☆☆☆
Found in Text Mining only
Arthritis, Gouty Gouty arthritis GWASCAT_DG 25676789
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 24377651, 28938222 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 19733838, 24377651, 26275848, 28938222
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Auditory Perceptual Disorders Auditory perceptual disorder Pubtator 24377651 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 26275848
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 29871690, 33216456 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34616498 Stimulate
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognitive disorder BEFREE 26275848
★☆☆☆☆
Found in Text Mining only