BAIAP2

BAR/IMD domain containing adaptor protein 2, the group of I-BAR domain containing

Basic information

Region (hg38): 17:81035121-81117434

Links

ENSG00000175866 ∙ NCBI:10458 ∙ OMIM:605475 ∙ HGNC:947 ∙ Uniprot:Q9UQB8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BAIAP2 gene.

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3	7	10
missense			27	2		29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding			4	1	1	6
Total	0	0	31	6	8

Variants in BAIAP2

This is a list of pathogenic ClinVar variants found in the BAIAP2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-81035301-T-A		not specified	Uncertain significance (Jun 06, 2023)
17-81035353-T-C		Attention deficit hyperactivity disorder	Uncertain significance (-)
17-81084849-A-G		not specified	Uncertain significance (Apr 22, 2024)
17-81084874-A-G		not specified	Uncertain significance (Oct 05, 2023)
17-81085704-G-T		not specified	Uncertain significance (Jan 23, 2023)
17-81086480-A-G		not specified	Uncertain significance (Dec 28, 2023)
17-81086553-T-A			Benign (Apr 26, 2018)
17-81098211-A-G		Attention deficit hyperactivity disorder	Uncertain significance (-)
17-81099957-C-T			Likely benign (Apr 10, 2018)
17-81099973-G-T		not specified	Uncertain significance (May 20, 2024)
17-81099993-C-T			Benign (Aug 08, 2018)
17-81100050-G-A			Benign (Dec 31, 2019)
17-81100062-C-T			Benign (Mar 30, 2018)
17-81103493-C-T			Benign (Dec 31, 2019)
17-81103530-C-T		not specified	Uncertain significance (Jan 04, 2022)
17-81103578-C-T		not specified	Uncertain significance (Nov 03, 2023)
17-81103610-G-A		not specified	Uncertain significance (Sep 14, 2021)
17-81103613-G-A		not specified	Uncertain significance (Aug 02, 2021)
17-81103931-C-A		not specified	Uncertain significance (Aug 02, 2021)
17-81103942-C-T			Likely benign (Jan 19, 2018)
17-81103944-G-A		not specified	Uncertain significance (May 14, 2024)
17-81103946-G-A		not specified	Uncertain significance (Jul 06, 2021)
17-81103971-A-G		not specified	Uncertain significance (Feb 27, 2023)
17-81103976-C-T		not specified	Uncertain significance (Jan 23, 2024)
17-81104016-C-G		not specified	Uncertain significance (Oct 10, 2023)

GnomAD

Source: gnomAD

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: dbNSFP

• 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