ZNF230

protein-coding

zinc finger protein 230, 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 regulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_006300.4

Inheritance

—

ClinVar variants

U:70B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.45

Max pathogenic AF

—

Genomic locus

chr19:44,002,957-44,013,924

External References & Databases

Ensembl (ENSG00000159882)

Transcript & Mutation Effects

hg38 • Region Span ~11.0 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 ZNF230 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 73

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_006300.4. 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
missense			70 clinvar	6 clinvar		76
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	70	7	0	77

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_006300.4	RefSeq	NP_006291.2	4	MANE Select
ENST00000429154.7	Ensembl	ENSP00000409318.1	4	MANE Select
ENST00000585491.1	Ensembl	ENSP00000466541.1	3	Standard
ENST00000585568.5	Ensembl	ENSP00000465324.1	2	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
protein binding
metal ion binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000429154
Coding exons: 4
Length: 10979
Individuals with no LoFs: 125723
Homozygous LoFs: 0
Heterozygous LoFs: 2
Defined: 125725
p: 0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.125	250	244	1.02	0.0000128	3170
Missense (PolyPhen)		61	72.732	0.83869		1045
Synonymous	1.46	70	87.3	0.802	0.00000451	819
Loss of Function	1.07	2	4.42	0.453	1.87e-7	52

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000018	0.000018	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.;

Recessive Scores

pRec: 0.0903

Intolerance Scores

LoFtool: 0.827
RVIS EVS: 1.6
RVIS percentile EVS: 95.87

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0142

Gene Damage Prediction

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