ZNF526

protein-coding

zinc finger protein 526, the group of Zinc fingers C2H2-type

Gene summary

Predicted to enable DNA binding activity and zinc ion binding activity. Predicted to be involved in DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_133444.3

Inheritance

ClinVar variants

P:6U:124B:31

Top phenotype

Dentici-Novelli neurodevelopmental syndrome

gnomAD constraint

pLI —, LoF o/e 0.21

Max pathogenic AF

—

Genomic locus

chr19:42,220,292-42,228,201

External References & Databases

Ensembl (ENSG00000167625)

Transcript & Mutation Effects

hg38 • Region Span ~7.9 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

Dentici-Novelli neurodevelopmental syndromeSTRONG

Inheritance Pattern: AR

Disease ID:MONDO:0859251

Submitter: Labcorp Genetics (formerly Invitae)

Dentici-Novelli neurodevelopmental syndromeLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0859251

Submitter: G2P

Dentici-Novelli neurodevelopmental syndromeSTRONG

Inheritance Pattern: AR

Disease ID:MONDO:0859251

Submitter: PanelApp Australia

Dentici-Novelli neurodevelopmental syndromeMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0859251

Submitter: Ambry Genetics

Clinical Genomic Database (CGD)

Dentici-Novelli neurodevelopmental syndromeAR

Manifestation: Craniofacial; Neurologic; Ophthalmologic

Intervention: General

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 33397746

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ZNF526 variants in ClinVar

9 Conditions Cataloged

Inborn genetic diseasesTotal: 107

not specifiedTotal: 34

not providedTotal: 27

ZNF526-related disorderTotal: 8

Dentici-Novelli neurodevelopmental syndromeTotal: 8

Intellectual disabilityTotal: 2

Noonan-like faciesTotal: 1

Fetal anomalies with a likely genetic causeTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_133444.3. 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			4 clinvar	17 clinvar	2 clinvar	23
missense	1 clinvar	1 clinvar	119 clinvar	9 clinvar	2 clinvar	132
nonsense		1 clinvar	1 clinvar		1 clinvar	3
start loss						0
frameshift	2 clinvar	1 clinvar				3
splice donor/acceptor (+/-2bp)						0
Total	3	3	124	26	5	161

Highest pathogenic variant AF is 0.00000547263

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_133444.3	RefSeq	NP_597701.1	1	MANE Select
ENST00000301215.8	Ensembl	ENSP00000301215.2	1	MANE Select
NM_001314033.3	RefSeq	NP_001300962.1	1	Standard
ENST00000597945.1	Ensembl	ENSP00000473075.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of transcription by RNA polymerase II

Molecular Function

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

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000301215
Coding exons: 1
Length: 7931
Individuals with no LoFs: 125727
Homozygous LoFs: 0
Heterozygous LoFs: 21
Defined: 125748
p: 0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.454	395	421	0.938	0.0000298	4316
Missense (PolyPhen)		173	214.51	0.80649		2111
Synonymous	0.500	160	168	0.951	0.0000112	1434
Loss of Function	3.24	4	19.4	0.206	0.00000120	212

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00013	0.00013	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in transcriptional regulation. {ECO:0000250}.;

Intolerance Scores

LoFtool: 0.649
RVIS EVS: -0.8
RVIS percentile EVS: 12.46

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0561

Gene Damage Prediction

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