BAIAP2
BAR/IMD domain containing adaptor protein 2, the group of I-BAR domain containing
Basic information
Region (hg38): 17:81035122-81117434
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (56 variants)
- not_provided (13 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the BAIAP2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001144888.2. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 11 | |||||
| missense | 53 | 55 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 53 | 6 | 7 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| BAIAP2 | protein_coding | protein_coding | ENST00000321300 | 15 | 82285 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.462 | 0.538 | 125734 | 0 | 12 | 125746 | 0.0000477 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.06 | 249 | 359 | 0.694 | 0.0000238 | 3602 |
| Missense in Polyphen | 54 | 128.61 | 0.41989 | 1323 | ||
| Synonymous | -3.41 | 219 | 164 | 1.34 | 0.0000130 | 1058 |
| Loss of Function | 3.81 | 6 | 27.6 | 0.217 | 0.00000117 | 329 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000289 | 0.0000289 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000464 | 0.0000462 |
| European (Non-Finnish) | 0.0000716 | 0.0000703 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.000328 | 0.000326 |
dbNSFP
Source:
- Function
- 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. {ECO:0000269|PubMed:11130076, ECO:0000269|PubMed:11696321, ECO:0000269|PubMed:14752106, ECO:0000269|PubMed:17115031, ECO:0000269|PubMed:19366662}.;
- Pathway
- Adherens junction - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Regulation of Actin Cytoskeleton;Signal Transduction;VEGFA-VEGFR2 Pathway;Fcgamma receptor (FCGR) dependent phagocytosis;Innate Immune System;Immune System;RHO GTPases Activate WASPs and WAVEs;RHO GTPase Effectors;Signaling by Rho GTPases;EGFR1;ErbB1 downstream signaling;Regulation of actin dynamics for phagocytic cup formation;Signaling by VEGF;Signaling by Receptor Tyrosine Kinases;RAC1 signaling pathway;CDC42 signaling events;PDGFR-beta signaling pathway
(Consensus)
Recessive Scores
- pRec
- 0.160
Intolerance Scores
- loftool
- 0.423
- rvis_EVS
- -1.4
- rvis_percentile_EVS
- 4.22
Haploinsufficiency Scores
- pHI
- 0.143
- hipred
- Y
- hipred_score
- 0.745
- ghis
- 0.649
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.908
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Baiap2
- Phenotype
- homeostasis/metabolism phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);
Gene ontology
- Biological process
- plasma membrane organization;axonogenesis;brain development;insulin receptor signaling pathway;regulation of cell shape;response to bacterium;dendrite development;positive regulation of actin filament polymerization;regulation of actin cytoskeleton organization;protein localization to synapse;Fc-gamma receptor signaling pathway involved in phagocytosis;vascular endothelial growth factor receptor signaling pathway;regulation of synaptic plasticity;actin filament bundle assembly;actin crosslink formation;positive regulation of dendritic spine morphogenesis;cellular response to epidermal growth factor stimulus;cell-cell adhesion;modification of synaptic structure, modulating synaptic transmission;cellular response to L-glutamate;regulation of modification of postsynaptic actin cytoskeleton;positive regulation of actin cytoskeleton reorganization;positive regulation of excitatory postsynaptic potential
- Cellular component
- ruffle;nucleoplasm;cytoplasm;rough endoplasmic reticulum;Golgi apparatus;cytosol;microtubule;plasma membrane;cell-cell adherens junction;actin cytoskeleton;secretory granule;filopodium;neuronal cell body;dendritic shaft;neuron projection terminus;excitatory synapse;neuron projection branch point;dendritic spine cytoplasm;extracellular exosome;synaptic membrane;Schaffer collateral - CA1 synapse;glutamatergic synapse;postsynaptic density, intracellular component;presynaptic cytosol;postsynaptic cytosol
- Molecular function
- transcription cofactor binding;protein binding;protein C-terminus binding;cytoskeletal adaptor activity;PDZ domain binding;identical protein binding;proline-rich region binding;scaffold protein binding;cadherin binding involved in cell-cell adhesion