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Aliases for BAIAP2 Gene

Aliases for BAIAP2 Gene

  • BAI1 Associated Protein 2 2 3
  • BAI1-Associated Protein 2 2 3 4 5
  • Insulin Receptor Substrate Protein Of 53 KDa 3 4
  • Insulin Receptor Substrate Of 53 KDa 2 3
  • Insulin Receptor Substrate P53/P58 3 4
  • Fas Ligand-Associated Factor 3 3 4
  • IRSp53/58 3 4
  • IRSP53 3 4
  • IRS-58 3 4
  • FLAF3 3 4
  • Insulin Receptor Substrate P53 4
  • BAI-Associated Protein 2 4
  • Protein BAP2 4
  • BAP2 3

External Ids for BAIAP2 Gene

Previous GeneCards Identifiers for BAIAP2 Gene

  • GC17U990151
  • GC17P082371
  • GC17P079571
  • GC17P079709
  • GC17P076623
  • GC17P079008
  • GC17P074448

Summaries for BAIAP2 Gene

Entrez Gene Summary for BAIAP2 Gene

  • 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 tyrosine kinase substrate and suggests a role for insulin in the central nervous system. It also associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers and cytokinesis. This protein is involved in lamellipodia and filopodia formation in motile cells and may affect neuronal growth-cone guidance. This protein has also been identified as interacting with the dentatorubral-pallidoluysian atrophy gene, which is associated with an autosomal dominant neurodegenerative disease. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]

GeneCards Summary for BAIAP2 Gene

BAIAP2 (BAI1 Associated Protein 2) is a Protein Coding gene. Diseases associated with BAIAP2 include dentatorubro-pallidoluysian atrophy. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. GO annotations related to this gene include identical protein binding and SH3 domain binding. An important paralog of this gene is BAIAP2L2.

UniProtKB/Swiss-Prot for BAIAP2 Gene

  • 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 cytoskeleton by WASF family members and the Arp2/3 complex. Plays a role in neurite growth. Acts syngeristically with ENAH to promote filipodia formation. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection. Participates in actin bundling when associated with EPS8, promoting filopodial protrusions.

Gene Wiki entry for BAIAP2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BAIAP2 Gene

Genomics for BAIAP2 Gene

Regulatory Elements for BAIAP2 Gene

Promoters for BAIAP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BAIAP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for BAIAP2 Gene

Chromosome:
17
Start:
81,035,122 bp from pter
End:
81,117,432 bp from pter
Size:
82,311 bases
Orientation:
Plus strand

Genomic View for BAIAP2 Gene

Genes around BAIAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BAIAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BAIAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BAIAP2 Gene

Proteins for BAIAP2 Gene

  • Protein details for BAIAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQB8-BAIP2_HUMAN
    Recommended name:
    Brain-specific angiogenesis inhibitor 1-associated protein 2
    Protein Accession:
    Q9UQB8
    Secondary Accessions:
    • O43858
    • Q53HB1
    • Q86WC1
    • Q8N5C0
    • Q96CR7
    • Q9UBR3
    • Q9UQ43

    Protein attributes for BAIAP2 Gene

    Size:
    552 amino acids
    Molecular mass:
    60868 Da
    Quaternary structure:
    • Homodimer. Interacts with CDC42 and RAC1 that have been activated by GTP binding. Interacts with ATN1, BAI1, EPS8, SHANK1, SHANK2, SHANK3, WASF1 and WASF2. Interacts with ENAH after recruitment of CDC42. Interacts with TIAM1 and DIAPH1 (By similarity). Interacts (via SH3 domain) with E.coli effector protein EspF(U) (via PXXP motifs). Interacts with E.coli intimin receptor Tir.

    Three dimensional structures from OCA and Proteopedia for BAIAP2 Gene

    Alternative splice isoforms for BAIAP2 Gene

neXtProt entry for BAIAP2 Gene

Proteomics data for BAIAP2 Gene at MOPED

Post-translational modifications for BAIAP2 Gene

  • Phosphorylated on tyrosine residues by INSR in response to insulin treatment.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for BAIAP2 Gene

Domains & Families for BAIAP2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UQB8

UniProtKB/Swiss-Prot:

BAIP2_HUMAN :
  • The IMD domain forms a coiled coil. The isolated domain can induce actin bundling and filopodia formation. In the absence of G-proteins intramolecular interaction between the IMD and the SH3 domain gives rise to an auto-inhibited state of the protein. Interaction of the IMD with RAC1 or CDC42 leads to activation.
Domain:
  • The IMD domain forms a coiled coil. The isolated domain can induce actin bundling and filopodia formation. In the absence of G-proteins intramolecular interaction between the IMD and the SH3 domain gives rise to an auto-inhibited state of the protein. Interaction of the IMD with RAC1 or CDC42 leads to activation.
  • The SH3 domain interacts with ATN1, BAI1, WASF1, WASF2, SHANK1, DIAPH1 and ENAH.
  • Contains 1 IMD (IRSp53/MIM homology) domain.
  • Contains 1 SH3 domain.
genes like me logo Genes that share domains with BAIAP2: view

No data available for Gene Families for BAIAP2 Gene

Function for BAIAP2 Gene

Molecular function for BAIAP2 Gene

GENATLAS Biochemistry:
brain specific angiogenesis (BAI1) inhibitor-associated protein 2,expressed in neurons,with two isoforms,long expressed in brain,short in other tissue,MAGUK (membrane-associted guanylase kinase homolog) family,homolog of hamster IRSP53
UniProtKB/Swiss-Prot 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 cytoskeleton by WASF family members and the Arp2/3 complex. Plays a role in neurite growth. Acts syngeristically with ENAH to promote filipodia formation. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection. Participates in actin bundling when associated with EPS8, promoting filopodial protrusions.

Gene Ontology (GO) - Molecular Function for BAIAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030165 PDZ domain binding IEA --
genes like me logo Genes that share ontologies with BAIAP2: view
genes like me logo Genes that share phenotypes with BAIAP2: view

Animal Models for BAIAP2 Gene

MGI Knock Outs for BAIAP2:

Animal Model Products

miRNA for BAIAP2 Gene

miRTarBase miRNAs that target BAIAP2

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BAIAP2 Gene

Localization for BAIAP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BAIAP2 Gene

Cytoplasm. Membrane; Peripheral membrane protein. Cell projection, filopodium. Cell projection, ruffle. Cytoplasm, cytoskeleton. Note=Detected throughout the cytoplasm in the absence of specific binding partners. Detected in filopodia and close to membrane ruffles. Recruited to actin pedestals that are formed upon infection by bacteria at bacterial attachment sites.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BAIAP2 Gene COMPARTMENTS Subcellular localization image for BAIAP2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
plasma membrane 5
nucleus 3
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for BAIAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0043005 neuron projection IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with BAIAP2: view

Pathways & Interactions for BAIAP2 Gene

genes like me logo Genes that share pathways with BAIAP2: view

SIGNOR curated interactions for BAIAP2 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for BAIAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0007409 axonogenesis TAS 10343108
GO:0009617 response to bacterium IMP 19366662
GO:0032956 regulation of actin cytoskeleton organization IEA,IMP 19366662
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis TAS --
genes like me logo Genes that share ontologies with BAIAP2: view

Drugs & Compounds for BAIAP2 Gene

(3) Drugs for BAIAP2 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with BAIAP2: view

Transcripts for BAIAP2 Gene

Unigene Clusters for BAIAP2 Gene

BAI1-associated protein 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BAIAP2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18 ^ 19a ·
SP1: - - - - - - - - - - - - - -
SP2: - - - - - - - - - - - - - -
SP3: - - - - - - - - - - - - - -
SP4: - - - - - - - - - - - - - -
SP5: - -
SP6: - - - - - - -
SP7: - - - - - - - - - - - - - -
SP8: - - - - - - - - - - -
SP9: - - - - - - - - - - - - - - -
SP10: - - - - - - - - - - -
SP11: - - - - - - - -
SP12: - - - - - - - - - - -
SP13: - - - - - - - - - - -
SP14:
SP15: - - - - - - -
SP16: - - - -
SP17:
SP18: - - - - - - - -
SP19: - - - - - - - - - -
SP20: - - - - - - -
SP21: - - -
SP22: -
SP23:

ExUns: 19b · 19c ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b
SP1: - -
SP2: -
SP3: -
SP4: -
SP5: - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: - - -
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:

Relevant External Links for BAIAP2 Gene

GeneLoc Exon Structure for
BAIAP2
ECgene alternative splicing isoforms for
BAIAP2

Expression for BAIAP2 Gene

mRNA expression in normal human tissues for BAIAP2 Gene

Protein differential expression in normal tissues from HIPED for BAIAP2 Gene

This gene is overexpressed in Cervix (30.7), Brain (16.3), and Frontal cortex (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for BAIAP2 Gene



SOURCE GeneReport for Unigene cluster for BAIAP2 Gene Hs.128316

mRNA Expression by UniProt/SwissProt for BAIAP2 Gene

Q9UQB8-BAIP2_HUMAN
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.
genes like me logo Genes that share expression patterns with BAIAP2: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for BAIAP2 Gene

Orthologs for BAIAP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for BAIAP2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BAIAP2 35
  • 90.28 (n)
  • 94.13 (a)
BAIAP2 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BAIAP2 35
  • 89.08 (n)
  • 94.93 (a)
BAIAP2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Baiap2 35
  • 87.82 (n)
  • 95.83 (a)
Baiap2 16
Baiap2 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BAIAP2 35
  • 97.88 (n)
  • 98 (a)
BAIAP2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Baiap2 35
  • 87.61 (n)
  • 95.69 (a)
oppossum
(Monodelphis domestica)
Mammalia BAIAP2 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BAIAP2 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves BAIAP2 35
  • 81.62 (n)
  • 86.21 (a)
BAIAP2 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BAIAP2 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia baiap2 35
  • 74.37 (n)
  • 81.08 (a)
Str.6299 35
zebrafish
(Danio rerio)
Actinopterygii baiap2a 35
  • 70.66 (n)
  • 69.92 (a)
wufk29g02 35
BAIAP2 (1 of 3) 36
  • 40 (a)
OneToMany
baiap2a 36
  • 65 (a)
OneToMany
baiap2b 36
  • 61 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG32082 36
  • 13 (a)
OneToMany
Species with no ortholog for BAIAP2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BAIAP2 Gene

ENSEMBL:
Gene Tree for BAIAP2 (if available)
TreeFam:
Gene Tree for BAIAP2 (if available)

Paralogs for BAIAP2 Gene

Paralogs for BAIAP2 Gene

genes like me logo Genes that share paralogs with BAIAP2: view

Variants for BAIAP2 Gene

Sequence variations from dbSNP and Humsavar for BAIAP2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs4969391 - 81,115,790(+) CGTCC(A/G)GCTGA reference, missense, utr-variant-3-prime
rs11664 -- 81,109,062(-) GAAAA(C/T)GGACG intron-variant, utr-variant-3-prime
rs1127508 -- 81,110,092(+) TGAGT(G/T)CAGGG intron-variant, utr-variant-3-prime
rs1801854 -- 81,109,119(+) CCTGC(C/T)CCATG intron-variant, utr-variant-3-prime
rs3935139 -- 81,059,717(+) gactg(C/G)tggga intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BAIAP2 Gene

Variant ID Type Subtype PubMed ID
esv26223 CNV Gain+Loss 19812545
nsv828128 CNV Loss 20364138
dgv3304n71 CNV Loss 21882294
nsv909000 CNV Loss 21882294
nsv909009 CNV Gain 21882294
dgv3306n71 CNV Loss 21882294
dgv3307n71 CNV Loss 21882294
dgv3308n71 CNV Loss 21882294
dgv3309n71 CNV Loss 21882294
nsv833564 CNV Loss 17160897
nsv909021 CNV Loss 21882294
nsv470619 CNV Loss 18288195
dgv3310n71 CNV Loss 21882294
nsv828131 CNV Loss 20364138
esv2716421 CNV Deletion 23290073
esv2716422 CNV Deletion 23290073
nsv112250 CNV Loss 16902084
esv2716423 CNV Deletion 23290073
dgv3311n71 CNV Loss 21882294
dgv3312n71 CNV Loss 21882294
dgv3313n71 CNV Loss 21882294
nsv909037 CNV Loss 21882294
dgv3314n71 CNV Loss 21882294
esv2716424 CNV Deletion 23290073
nsv828132 CNV Loss 20364138
nsv523417 CNV Gain 19592680
nsv909047 CNV Gain 21882294
dgv3315n71 CNV Loss 21882294

Variation tolerance for BAIAP2 Gene

Residual Variation Intolerance Score: 9.75% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.61; 13.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BAIAP2 Gene

HapMap Linkage Disequilibrium report
BAIAP2
Human Gene Mutation Database (HGMD)
BAIAP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BAIAP2 Gene

Disorders for BAIAP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BAIAP2 Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
dentatorubro-pallidoluysian atrophy
  • dentatorubral-pallidoluysian atrophy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for BAIAP2

Genetic Association Database (GAD)
BAIAP2
Human Genome Epidemiology (HuGE) Navigator
BAIAP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BAIAP2
genes like me logo Genes that share disorders with BAIAP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BAIAP2 Gene

Publications for BAIAP2 Gene

  1. Identification of BAIAP2 (BAI-associated protein 2), a novel human homologue of hamster IRSp53, whose SH3 domain interacts with the cytoplasmic domain of BAI1. (PMID: 10343108) Oda K. … Tokino T. (Cytogenet. Cell Genet. 1999) 2 3 4 23 67
  2. Regulation of IRSp53-dependent filopodial dynamics by antagonism between 14-3-3 binding and SH3-mediated localization. (PMID: 19933840) Robens J.M. … Manser E. (Mol. Cell. Biol. 2010) 3 23
  3. Scaffold proteins IRSp53 and spinophilin regulate localized Rac activation by T-lymphocyte invasion and metastasis protein 1 (TIAM1). (PMID: 20360004) Rajagopal S. … Buchsbaum R.J. (J. Biol. Chem. 2010) 3 23
  4. Kank attenuates actin remodeling by preventing interaction between IRSp53 and Rac1. (PMID: 19171758) Roy B.C. … Kiyama R. (J. Cell Biol. 2009) 3 23
  5. IRSp53 links the enterohemorrhagic E. coli effectors Tir and EspFU for actin pedestal formation. (PMID: 19286134) Weiss S.M. … Stradal T.E. (Cell Host Microbe 2009) 3 23

Products for BAIAP2 Gene

Sources for BAIAP2 Gene

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