BAIAP2

protein-coding

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

Gene summary

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]

MANE transcript

NM_001144888.2

Inheritance

—

ClinVar variants

P:6U:71B:13

Top phenotype

Developmental and epileptic encephalopathy 120

gnomAD constraint

pLI —, LoF o/e 0.22

Max pathogenic AF

—

Genomic locus

chr17:81,035,122-81,117,434

External References & Databases

Ensembl (ENSG00000175866)

Transcript & Mutation Effects

hg38 • Region Span ~82.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to BAIAP2 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 64

not providedTotal: 14

Developmental and epileptic encephalopathy 120Total: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001144888.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	5 clinvar	6 clinvar	13
missense	6 clinvar		63 clinvar	2 clinvar		71
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	6	0	71	7	6	90

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 98 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001144888.2	RefSeq	NP_001138360.1	14	MANE Select
ENST00000428708.7	Ensembl	ENSP00000401022.2	14	MANE Select
NM_001385127.1	RefSeq	NP_001372056.1	15	Standard
NM_001385128.1	RefSeq	NP_001372057.1	14	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Adherens junction - Homo sapiens (human)
Regulation of actin cytoskeleton - Homo sapiens (human)
Regulation of Actin Cytoskeleton
Signal Transduction
VEGFA-VEGFR2 Pathway

Biological Process

plasma membrane organization
axonogenesis
brain development
insulin receptor signaling pathway
regulation of cell shape

Molecular Function

transcription cofactor binding
protein binding
protein C-terminus binding
cytoskeletal adaptor activity
PDZ domain binding

Cellular Component

ruffle
nucleoplasm
cytoplasm
rough endoplasmic reticulum
Golgi apparatus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000321300
Coding exons: 15
Length: 82285
Individuals with no LoFs: 125734
Homozygous LoFs: 0
Heterozygous LoFs: 12
Defined: 125746
p: 0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.06	249	359	0.694	0.0000238	3602
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000072	0.000070	rare
South Asian	0	0.0	absent
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.160

Intolerance Scores

LoFtool: 0.423
RVIS EVS: -1.4
RVIS percentile EVS: 4.22

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.908

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium