BAIAP2L2

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

Basic information

Region (hg38): 22:38084652-38111015

Links

ENSG00000128298 ∙ NCBI:80115 ∙ OMIM:617536 ∙ HGNC:26203 ∙ Uniprot:Q6UXY1 ∙ 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 BAIAP2L2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BAIAP2L2 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				2		2
missense			55	1		56
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	55	3	0

Variants in BAIAP2L2

This is a list of pathogenic ClinVar variants found in the BAIAP2L2 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-38085322-C-T		not specified	Uncertain significance (Mar 15, 2024)
22-38085328-T-C		not specified	Uncertain significance (Apr 07, 2022)
22-38085340-G-C		not specified	Uncertain significance (Mar 06, 2023)
22-38085701-T-C		not specified	Uncertain significance (Jan 23, 2024)
22-38085722-G-A		not specified	Uncertain significance (Jun 05, 2024)
22-38086282-C-T		not specified	Uncertain significance (Feb 05, 2024)
22-38086294-G-C		not specified	Uncertain significance (Jan 08, 2024)
22-38086313-G-A		not specified	Uncertain significance (Jul 11, 2023)
22-38086320-G-A			Likely benign (Sep 01, 2022)
22-38086324-C-T		not specified	Uncertain significance (Oct 25, 2024)
22-38086325-G-A		not specified	Uncertain significance (Feb 26, 2024)
22-38086348-C-T		not specified	Uncertain significance (Jun 07, 2023)
22-38086349-G-A		not specified	Uncertain significance (Dec 20, 2023)
22-38086355-G-A		not specified	Uncertain significance (Feb 10, 2022)
22-38086376-C-T		not specified	Uncertain significance (Aug 02, 2022)
22-38086399-G-A		not specified	Uncertain significance (Dec 01, 2022)
22-38086418-C-T		not specified	Likely benign (Aug 04, 2024)
22-38086442-G-T		not specified	Uncertain significance (Jan 04, 2024)
22-38087165-G-T			Likely benign (Mar 01, 2024)
22-38087202-G-C		not specified	Uncertain significance (Dec 13, 2023)
22-38087206-T-C		not specified	Uncertain significance (Jul 12, 2022)
22-38087244-G-A		not specified	Uncertain significance (Jul 12, 2022)
22-38088751-G-C		not specified	Uncertain significance (Jan 23, 2024)
22-38088807-C-T			Likely benign (Oct 01, 2024)
22-38088815-C-T		not specified	Uncertain significance (Sep 09, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BAIAP2L2	protein_coding	protein_coding	ENST00000381669	14	25782

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.23e-9	0.553	124650	1	153	124804	0.000617

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.239	283	295	0.961	0.0000200	3371
Missense in Polyphen		93	102.85	0.90426		1048
Synonymous	-0.0778	114	113	1.01	0.00000746	1065
Loss of Function	1.20	17	23.2	0.732	0.00000113	296

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000975	0.000884
Ashkenazi Jewish	0.000320	0.000199
East Asian	0.00102	0.00100
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.000766	0.000477
Middle Eastern	0.00102	0.00100
South Asian	0.00351	0.00196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Phosphoinositides-binding protein that induces the formation of planar or gently curved membrane structures. Binds to phosphoinositides, including to phosphatidylinositol 4,5- bisphosphate (PtdIns(4,5)P2) headgroups. There seems to be no clear preference for a specific phosphoinositide (By similarity). {ECO:0000250}.

Intolerance Scores

• loftool: 0.398
• rvis_EVS: -0.45
• rvis_percentile_EVS: 24.19

Haploinsufficiency Scores

• pHI: 0.132
• hipred: N
• hipred_score: 0.234
• ghis: 0.544

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.245

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Baiap2l2
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); vision/eye phenotype; hearing/vestibular/ear phenotype

Gene ontology

• Biological process: plasma membrane organization;positive regulation of actin filament polymerization;actin filament bundle assembly;actin crosslink formation;membrane organization;positive regulation of actin cytoskeleton reorganization
• Cellular component: nucleoplasm;cytosol;plasma membrane;vesicle membrane;actin cytoskeleton;cytoplasmic vesicle membrane;cell-cell contact zone;clathrin complex
• Molecular function: phospholipid binding