BZW2

protein-coding

basic leucine zipper and W2 domains 2

Gene summary

Enables cadherin binding activity. Involved in regulation of translational initiation. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_014038.3

Inheritance

—

ClinVar variants

U:48B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.27

Max pathogenic AF

—

Genomic locus

chr7:16,646,131-16,706,523

External References & Databases

Ensembl (ENSG00000136261)

Transcript & Mutation Effects

hg38 • Region Span ~60.4 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 BZW2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 39

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014038.3. 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			1 clinvar	1 clinvar		2
missense			43 clinvar			43
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	48	1	0	49

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 64 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014038.3	RefSeq	NP_054757.1	11	MANE Select
ENST00000258761.8	Ensembl	ENSP00000258761.3	11	MANE Select
NM_001159767.2	RefSeq	NP_001153239.1	11	Standard
NM_001362717.2	RefSeq	NP_001349646.1	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

nervous system development
cell differentiation

Molecular Function

protein binding
cadherin binding

Cellular Component

cytoplasm
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000433922
Coding exons: 11
Length: 60393
Individuals with no LoFs: 125715
Homozygous LoFs: 0
Heterozygous LoFs: 27
Defined: 125742
p: 0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.95	143	226	0.634	0.0000120	2771
Missense (PolyPhen)		33	70.447	0.46844		960
Synonymous	-1.29	104	88.6	1.17	0.00000532	764
Loss of Function	3.20	6	22.3	0.269	0.00000111	278

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00022	0.00018	rare
Latino/Admixed American	0.000043	0.000029	rare
Ashkenazi Jewish	0.00047	0.00030	rare
East Asian	0.00018	0.00016	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00019	0.00015	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in neuronal differentiation. {ECO:0000250}.;

Recessive Scores

pRec: 0.124

Intolerance Scores

LoFtool: 0.184
RVIS EVS: -0.4
RVIS percentile EVS: 26.53

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.957

Gene Damage Prediction

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