ZNF234

protein-coding

zinc finger protein 234, the group of Zinc fingers C2H2-type

Gene summary

Predicted to enable DNA-binding transcription factor activity. Predicted to be involved in DNA-templated transcription and negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

ZNF269

MANE transcript

NM_006630.3

Inheritance

—

ClinVar variants

U:77B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.86

Max pathogenic AF

—

Genomic locus

chr19:44,141,554-44,160,313

External References & Databases

Ensembl (ENSG00000263002)

Transcript & Mutation Effects

hg38 • Region Span ~18.8 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 ZNF234 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 76

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_006630.3. 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						0
missense			74 clinvar	4 clinvar		78
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	77	4	0	81

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 70 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_006630.3	RefSeq	NP_006621.1	4	MANE Select
ENST00000426739.7	Ensembl	ENSP00000400878.1	4	MANE Select
NM_001144824.2	RefSeq	NP_001138296.1	4	Standard
ENST00000590795.1	Ensembl	ENSP00000466129.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Gene expression (Transcription)
Generic Transcription Pathway
RNA Polymerase II Transcription

Biological Process

regulation of transcription by RNA polymerase II

Molecular Function

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

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000426739
Coding exons: 4
Length: 17447
Individuals with no LoFs: 125626
Homozygous LoFs: 0
Heterozygous LoFs: 122
Defined: 125748
p: 0.000485

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.15	303	365	0.830	0.0000181	4671
Missense (PolyPhen)		130	157.32	0.82632		2026
Synonymous	0.287	121	125	0.967	0.00000586	1215
Loss of Function	0.618	20	23.2	0.862	0.00000118	332

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00032	0.00031	rare
Latino/Admixed American	0.0012	0.0012	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00093	0.00092	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00041	0.00040	rare
South Asian	0.00039	0.00039	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in transcriptional regulation.;

Intolerance Scores

LoFtool: 0.684
RVIS EVS: 0.25
RVIS percentile EVS: 69.57

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.104

Gene Damage Prediction

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