ZNF345

protein-coding

zinc finger protein 345, the group of Zinc fingers C2H2-type

Gene summary

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001242472.2

Inheritance

—

ClinVar variants

U:66B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.88

Max pathogenic AF

—

Genomic locus

chr19:36,850,361-36,913,029

External References & Databases

Ensembl (ENSG00000251247)

Transcript & Mutation Effects

hg38 • Region Span ~62.7 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 ZNF345 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 66

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001242472.2. 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			64 clinvar	2 clinvar	1 clinvar	67
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	66	3	2	71

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 66 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001242472.2	RefSeq	NP_001229401.1	1	MANE Select
ENST00000420450.6	Ensembl	ENSP00000431216.1	1	MANE Select
NM_001242474.2	RefSeq	NP_001229403.1	1	Standard
NM_001242475.2	RefSeq	NP_001229404.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

negative regulation of transcription by RNA polymerase II
regulation of transcription by RNA polymerase III
transcription by RNA polymerase II
transcription by RNA polymerase III
negative regulation of transcription, DNA-templated

Molecular Function

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

Cellular Component

nucleus
nucleoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000529555
Coding exons: 1
Length: 62669
Individuals with no LoFs: 125575
Homozygous LoFs: 0
Heterozygous LoFs: 158
Defined: 125733
p: 0.000629

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.822	224	261	0.857	0.0000125	3269
Missense (PolyPhen)		63	88.264	0.71377		1101
Synonymous	0.920	74	84.8	0.873	0.00000395	849
Loss of Function	0.409	13	14.7	0.885	8.99e-7	209

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0043	0.0043	notable
Latino/Admixed American	0.0017	0.0017	notable
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0	0.0	absent
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00019	0.00018	rare
South Asian	0.000065	0.000065	rare
Other	0.00082	0.00081	rare

dbNSFP Gene Annotations

Source: dbNSFP

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

Intolerance Scores

RVIS EVS: -0.14
RVIS percentile EVS: 43.77

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.189

Gene Damage Prediction

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