BAIAP2
BAR/IMD domain-containing adapter protein 2
Also known as: BAIP2_HUMAN, BAP2, IRSp53, WAML
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UQB8
- Gene
- BAIAP2
- Ensembl
- ENSG00000175866
- Chromosome
- 17
- Canonical length
- 552 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Plasma membrane,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
552 residues, UniProt reviewed canonical sequence.
>Q9UQB8|BAIAP2
1 MSLSRSEEMH RLTENVYKTI MEQFNPSLRN FIAMGKNYEK ALAGVTYAAK GYFDALVKMG
61 ELASESQGSK ELGDVLFQMA EVHRQIQNQL EEMLKSFHNE LLTQLEQKVE LDSRYLSAAL
121 KKYQTEQRSK GDALDKCQAE LKKLRKKSQG SKNPQKYSDK ELQYIDAISN KQGELENYVS
181 DGYKTALTEE RRRFCFLVEK QCAVAKNSAA YHSKGKELLA QKLPLWQQAC ADPSKIPERA
241 VQLMQQVASN GATLPSALSA SKSNLVISDP IPGAKPLPVP PELAPFVGRM SAQESTPIMN
301 GVTGPDGEDY SPWADRKAAQ PKSLSPPQSQ SKLSDSYSNT LPVRKSVTPK NSYATTENKT
361 LPRSSSMAAG LERNGRMRVK AIFSHAAGDN STLLSFKEGD LITLLVPEAR DGWHYGESEK
421 TKMRGWFPFS YTRVLDSDGS DRLHMSLQQG KSSSTGNLLD KDDLAIPPPD YGAASRAFPA
481 QTASGFKQRP YSVAVPAFSQ GLDDYGARSM SRNPFAHVQL KPTVTNDRCD LSAQGPEGRE
541 HGDGSARTLA GRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BAIAP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.52
- Highest tissue expression
- 132 nTPM
Expression across tissuesHPA
Tissue
- skin: 132 nTPM
- esophagus: 132 nTPM
- choroid plexus: 97 nTPM
- basal ganglia: 95 nTPM
- cerebral cortex: 88 nTPM
- liver: 82 nTPM
Single-cell type
- esophageal apical cells: 654 nCPM
- alveolar cells type 2: 274 nCPM
- esophageal suprabasal cells: 246 nCPM
- proximal tubule cells: 241 nCPM
- suprabasal keratinocytes: 224 nCPM
- ocular epithelial cells: 220 nCPM
Immune cell
- plasmacytoid DC: 21 nTPM
- myeloid DC: 11 nTPM
- intermediate monocyte: 10 nTPM
- non-classical monocyte: 9.7 nTPM
- classical monocyte: 8.7 nTPM
- neutrophil: 5.5 nTPM
Brain region
- hippocampal formation: 243 nTPM
- cerebral cortex: 203 nTPM
- basal ganglia: 193 nTPM
- amygdala: 170 nTPM
- hypothalamus: 154 nTPM
- white matter: 152 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about BAIAP2.
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 124 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Developmental and epileptic encephalopathy 120
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.43
- gnomAD pLI
- 0.46
- gnomAD missense Z
- 2.06
- DepMap mean gene effect
- -0.05
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actin crosslink formation
- actin filament bundle assembly
- axonogenesis
- cellular response to epidermal growth factor stimulus
- cellular response to L-glutamate
- dendrite development
- insulin receptor signaling pathway
- plasma membrane organization
- positive regulation of actin filament polymerization
- positive regulation of dendritic spine morphogenesis
- positive regulation of excitatory postsynaptic potential
- protein localization to synapse
- regulation of actin cytoskeleton organization
- regulation of cell shape
- regulation of modification of postsynaptic actin cytoskeleton
- regulation of synaptic plasticity
Molecular functions
- cadherin binding involved in cell-cell adhesion
- cytoskeletal anchor activity
- identical protein binding
- PDZ domain binding
- proline-rich region binding
- scaffold protein binding
- transcription coregulator binding
Cellular components
- adherens junction
- cytoplasm
- cytosol
- dendritic shaft
- excitatory synapse
- extracellular exosome
- filopodium
- glutamatergic synapse
- lamellipodium
- microtubule
- neuron projection terminus
- neuronal cell body
- nucleoplasm
- plasma membrane
- postsynaptic cytosol
- postsynaptic density, intracellular component
- presynaptic cytosol
- ruffle
- Schaffer collateral - CA1 synapse
- secretory granule
- synaptic membrane
- dendritic spine cytoplasm
- neuron projection branch point
Protein domainsUniProt · Pfam · InterPro
- SH3 domain
- IMD/I-BAR domain
- AH/BAR domain superfamily
- I-BAR domain containing protein IRSp53/IRTKS/Pinkbar
- SH3-like domain superfamily
- Variant SH3 domain
- IRSp53/MIM homology domain
- BAR/IMD domain-containing adapter protein 2, I-BAR domain
- BAR/IMD domain-containing adapter protein 2, SH3 domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of BAIAP2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BAIAP2 as an antibody target. Whether an autoantibody or antibody against BAIAP2 could matter depends on whether native BAIAP2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BAIAP2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label BAIAP2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...