WIZ

protein-coding

WIZ zinc finger, the group of Zinc fingers C2H2-type

Gene summary

Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; histone methyltransferase binding activity; and transcription corepressor binding activity. Involved in positive regulation of nuclear cell cycle DNA replication and protein stabilization. Located in nucleoplasm. Biomarker of atherosclerosis. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001371589.1

Inheritance

—

ClinVar variants

U:138B:5

Top phenotype

Bladder exstrophy-epispadias-cloacal exstrophy complex

gnomAD constraint

pLI —, LoF o/e 0.07

Max pathogenic AF

—

Genomic locus

chr19:15,419,978-15,449,956

External References & Databases

Ensembl (ENSG00000011451)

Transcript & Mutation Effects

hg38 • Region Span ~30.0 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 WIZ variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 132

not providedTotal: 4

Bladder exstrophy-epispadias-cloacal exstrophy complexTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001371589.1. 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			5 clinvar	2 clinvar		7
missense			132 clinvar	3 clinvar		135
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	138	5	0	143

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 54 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001371589.1	RefSeq	NP_001358518.1	12	MANE Select
ENST00000673675.1	Ensembl	ENSP00000500993.1	12	MANE Select
NM_001330395.4	RefSeq	NP_001317324.2	8	Standard
NM_001371603.5	RefSeq	NP_001358532.2	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of transcription, DNA-templated
regulation of transcription by RNA polymerase II
positive regulation of nuclear cell cycle DNA replication
protein stabilization
protein heterotrimerization

Molecular Function

DNA-binding transcription factor activity, RNA polymerase II-specific
nucleic acid binding
DNA-binding transcription factor activity
protein binding
metal ion binding

Cellular Component

nucleus
nucleoplasm
midbody
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000263381
Coding exons: 7
Length: 28444
Individuals with no LoFs: 124780
Homozygous LoFs: 0
Heterozygous LoFs: 5
Defined: 124785
p: 0.0000200

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.38	378	533	0.709	0.0000375	4964
Missense (PolyPhen)		129	230.45	0.55976		2030
Synonymous	0.320	222	228	0.973	0.0000157	1786
Loss of Function	4.56	2	28.0	0.0714	0.00000171	284

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)	0.000027	0.000026	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May link EHMT1 and EHMT2 histone methyltransferases to the CTBP corepressor machinery. May be involved in EHMT1-EHMT2 heterodimer formation and stabilization (By similarity). {ECO:0000250}.;

Intolerance Scores

LoFtool: 0.0650
RVIS EVS: -0.8
RVIS percentile EVS: 12.46

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.782

Gene Damage Prediction

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