Human Gene BAIAP2 (ENST00000428708.7_8) from GENCODE V47lift37
  Description: BAR/IMD domain containing adaptor protein 2, transcript variant 39 (from RefSeq NR_169577.1)
Gencode Transcript: ENST00000428708.7_8
Gencode Gene: ENSG00000175866.16_16
Transcript (Including UTRs)
   Position: hg19 chr17:79,008,951-79,091,234 Size: 82,284 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr17:79,009,055-79,089,639 Size: 80,585 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:79,008,951-79,091,234)mRNA (may differ from genome)Protein (534 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BAIP2_HUMAN
DESCRIPTION: RecName: Full=Brain-specific angiogenesis inhibitor 1-associated protein 2; Short=BAI-associated protein 2; Short=BAI1-associated protein 2; Short=Protein BAP2; AltName: Full=Fas ligand-associated factor 3; Short=FLAF3; AltName: Full=Insulin receptor substrate p53/p58; Short=IRS-58; Short=IRSp53/58; AltName: Full=Insulin receptor substrate protein of 53 kDa; Short=IRSp53; Short=Insulin receptor substrate p53;
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.
SUBUNIT: 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.
INTERACTION: Self; NbExp=2; IntAct=EBI-525456, EBI-525456; P60953-2:CDC42; NbExp=2; IntAct=EBI-525456, EBI-287394; Q12929:EPS8; NbExp=4; IntAct=EBI-525456, EBI-375576; Q08509:Eps8 (xeno); NbExp=8; IntAct=EBI-525456, EBI-375596; Q14678:KANK1; NbExp=6; IntAct=EBI-525456, EBI-2556221; Q14678-2:KANK1; NbExp=4; IntAct=EBI-6174091, EBI-6173812; P63000:RAC1; NbExp=3; IntAct=EBI-525456, EBI-413628; Q9Y6W5:WASF2; NbExp=5; IntAct=EBI-6174091, EBI-4290615;
SUBCELLULAR LOCATION: 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.
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.
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.
DOMAIN: The SH3 domain interacts with ATN1, BAI1, WASF1, WASF2, SHANK1, DIAPH1 and ENAH.
PTM: Phosphorylated on tyrosine residues by INSR in response to insulin treatment.
SIMILARITY: Contains 1 IMD (IRSp53/MIM homology) domain.
SIMILARITY: Contains 1 SH3 domain.
CAUTION: It is uncertain whether Met-1 or Met-59 is the initiator.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BAIAP2
Diseases sorted by gene-association score: dentatorubro-pallidoluysian atrophy (9), attention deficit-hyperactivity disorder (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 38.66 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 595.36 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -36.80104-0.354 Picture PostScript Text
3' UTR -708.201595-0.444 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013606 - IRSp53/MIM_homology_IMD
IPR011511 - SH3_2
IPR001452 - SH3_domain

Pfam Domains:
PF07653 - Variant SH3 domain
PF08397 - IRSp53/MIM homology domain
PF14604 - Variant SH3 domain

SCOP Domains:
88946 - Sigma2 domain of RNA polymerase sigma factors
103657 - BAR/IMD domain-like
50044 - SH3-domain
143100 - TTHA1013/TTHA0281-like
58100 - Bacterial hemolysins

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1WDZ - X-ray MuPIT 1Y2O - X-ray MuPIT 2YKT - X-ray MuPIT 3RNJ - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9UQB8
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001221 transcription cofactor binding
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0008093 cytoskeletal adaptor activity
GO:0030165 PDZ domain binding
GO:0042802 identical protein binding
GO:0070064 proline-rich region binding
GO:0097110 scaffold protein binding
GO:0098641 cadherin binding involved in cell-cell adhesion

Biological Process:
GO:0007009 plasma membrane organization
GO:0007409 axonogenesis
GO:0007420 brain development
GO:0008286 insulin receptor signaling pathway
GO:0008360 regulation of cell shape
GO:0009617 response to bacterium
GO:0010976 positive regulation of neuron projection development
GO:0016358 dendrite development
GO:0030182 neuron differentiation
GO:0030838 positive regulation of actin filament polymerization
GO:0032956 regulation of actin cytoskeleton organization
GO:0035418 protein localization to synapse
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis
GO:0048010 vascular endothelial growth factor receptor signaling pathway
GO:0048167 regulation of synaptic plasticity
GO:0051017 actin filament bundle assembly
GO:0051764 actin crosslink formation
GO:0061003 positive regulation of dendritic spine morphogenesis
GO:0071364 cellular response to epidermal growth factor stimulus
GO:0098609 cell-cell adhesion
GO:1905232 cellular response to L-glutamate
GO:2000251 positive regulation of actin cytoskeleton reorganization
GO:2000463 positive regulation of excitatory postsynaptic potential

Cellular Component:
GO:0001726 ruffle
GO:0005737 cytoplasm
GO:0005791 rough endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0005886 plasma membrane
GO:0005913 cell-cell adherens junction
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0030141 secretory granule
GO:0030175 filopodium
GO:0042995 cell projection
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0043197 dendritic spine
GO:0043198 dendritic shaft
GO:0044306 neuron projection terminus
GO:0060076 excitatory synapse
GO:0070062 extracellular exosome
GO:0097060 synaptic membrane
GO:0098793 presynapse
GO:0098794 postsynapse
GO:0015629 actin cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  AK298629 - Homo sapiens cDNA FLJ59378 complete cds, highly similar to Brain-specific angiogenesis inhibitor1-associated protein 2.
AK222670 - Homo sapiens mRNA for BAI1-associated protein 2 isoform 1 variant, clone: CBR01547.
AK023688 - Homo sapiens cDNA FLJ13626 fis, clone PLACE1011041, highly similar to Homo sapiens mRNA for BAP2-alpha protein.
AK225612 - Homo sapiens mRNA for Splice isoform 2 of Q9UQB8 variant, clone: REC01074.
AK297644 - Homo sapiens cDNA FLJ59352 complete cds, highly similar to Brain-specific angiogenesis inhibitor1-associated protein 2.
BC032559 - Homo sapiens BAI1-associated protein 2, mRNA (cDNA clone MGC:45218 IMAGE:5562784), complete cds.
BC014020 - Homo sapiens BAI1-associated protein 2, mRNA (cDNA clone MGC:20295 IMAGE:4125501), complete cds.
U70669 - Human Fas-ligand associated factor 3 mRNA, partial cds.
AB017120 - Homo sapiens mRNA for insulin receptor substrate protein of 53 kDa (a shorter form), complete cds.
AB015019 - Homo sapiens mRNA for BAP2-alpha protein, complete cds.
AB015020 - Homo sapiens mRNA for BAP2-beta protein, complete cds.
AB017119 - Homo sapiens mRNA for insulin receptor substrate protein of 53 kDa (a longer form), complete cds.
BC002495 - Homo sapiens BAI1-associated protein 2, mRNA (cDNA clone IMAGE:3050508).
DQ893456 - Synthetic construct clone IMAGE:100006086; FLH193326.01X; RZPDo839F0178D BAI1-associated protein 2 (BAIAP2) gene, encodes complete protein.
DQ896329 - Synthetic construct Homo sapiens clone IMAGE:100010789; FLH193322.01L; RZPDo839F0168D BAI1-associated protein 2 (BAIAP2) gene, encodes complete protein.
AB528742 - Synthetic construct DNA, clone: pF1KB9969, Homo sapiens BAIAP2 gene for BAI1-associated protein 2, without stop codon, in Flexi system.
CU680744 - Synthetic construct Homo sapiens gateway clone IMAGE:100019772 5' read BAIAP2 mRNA.
CU689422 - Synthetic construct Homo sapiens gateway clone IMAGE:100023251 5' read BAIAP2 mRNA.
KJ902108 - Synthetic construct Homo sapiens clone ccsbBroadEn_11502 BAIAP2 gene, encodes complete protein.
KJ902107 - Synthetic construct Homo sapiens clone ccsbBroadEn_11501 BAIAP2 gene, encodes complete protein.
AK056888 - Homo sapiens cDNA FLJ32326 fis, clone PROST2004332, highly similar to Brain-specific angiogenesis inhibitor1-associated protein 2.
AK301436 - Homo sapiens cDNA FLJ55181 complete cds, highly similar to Brain-specific angiogenesis inhibitor1-associated protein 2.
AK127291 - Homo sapiens cDNA FLJ45358 fis, clone BRHIP3013078.
JD086622 - Sequence 67646 from Patent EP1572962.
JD159494 - Sequence 140518 from Patent EP1572962.
JD194131 - Sequence 175155 from Patent EP1572962.
JD216112 - Sequence 197136 from Patent EP1572962.
JD466836 - Sequence 447860 from Patent EP1572962.
JD481746 - Sequence 462770 from Patent EP1572962.
JD396022 - Sequence 377046 from Patent EP1572962.
JD219784 - Sequence 200808 from Patent EP1572962.
JD156349 - Sequence 137373 from Patent EP1572962.
JD466942 - Sequence 447966 from Patent EP1572962.
JD181495 - Sequence 162519 from Patent EP1572962.
JD077997 - Sequence 59021 from Patent EP1572962.
JD525931 - Sequence 506955 from Patent EP1572962.
JD328898 - Sequence 309922 from Patent EP1572962.
JD062721 - Sequence 43745 from Patent EP1572962.
JD170543 - Sequence 151567 from Patent EP1572962.
JD556534 - Sequence 537558 from Patent EP1572962.
JD461489 - Sequence 442513 from Patent EP1572962.
JD271232 - Sequence 252256 from Patent EP1572962.
JD372567 - Sequence 353591 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_rhoPathway - Rho cell motility signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein Q9UQB8 (Reactome details) participates in the following event(s):

R-HSA-2029465 WAVE Regulatory Complex (WRC) interacts with RAC1 and PIP3 and gets activated
R-HSA-2130194 ABL phosphorylates WAVEs
R-HSA-2029469 p-ERK phosphorylates WAVEs and ABI
R-HSA-442592 WASPs or WAVEs activate the ARP2/3 complex
R-HSA-2197690 Detachment of WASP/WAVE
R-HSA-2029466 Attachment of preexisting mother filament and initiation of branching
R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation
R-HSA-4420097 VEGFA-VEGFR2 Pathway
R-HSA-5663213 RHO GTPases Activate WASPs and WAVEs
R-HSA-2029480 Fcgamma receptor (FCGR) dependent phagocytosis
R-HSA-194138 Signaling by VEGF
R-HSA-195258 RHO GTPase Effectors
R-HSA-168249 Innate Immune System
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-194315 Signaling by Rho GTPases
R-HSA-168256 Immune System
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: BAIP2_HUMAN, ENST00000428708.1, ENST00000428708.2, ENST00000428708.3, ENST00000428708.4, ENST00000428708.5, ENST00000428708.6, NR_169577, O43858, Q53HB1, Q86WC1, Q8N5C0, Q96CR7, Q9UBR3, Q9UQ43, Q9UQB8, uc319xre.1, uc319xre.2
UCSC ID: ENST00000428708.7_8
RefSeq Accession: NM_001144888.2
Protein: Q9UQB8 (aka BAIP2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.