ZNF445

protein-coding

zinc finger protein 445, the group of Zinc fingers C2H2-type|SCAN domain containing

Gene summary

Enables double-stranded methylated DNA binding activity. Involved in epigenetic programing of female pronucleus and negative regulation of gene expression via chromosomal CpG island methylation. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

ZNF168

MANE transcript

NM_181489.6

Inheritance

ClinVar variants

U:134B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.08

Max pathogenic AF

—

Genomic locus

chr3:44,431,705-44,477,670

External References & Databases

Ensembl (ENSG00000185219)

Transcript & Mutation Effects

hg38 • Region Span ~46.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

syndromic diseaseLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0002254

Submitter: PanelApp Australia

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ZNF445 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 133

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_181489.6. 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			131 clinvar	7 clinvar	1 clinvar	139
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	134	7	1	142

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_181489.6	RefSeq	NP_852466.1	6	MANE Select
ENST00000396077.8	Ensembl	ENSP00000379387.2	6	MANE Select
NM_001369454.1	RefSeq	NP_001356383.1	6	Standard
ENST00000425708.6	Ensembl	ENSP00000413073.2	6	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
metal ion binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000425708
Coding exons: 6
Length: 37901
Individuals with no LoFs: 125731
Homozygous LoFs: 0
Heterozygous LoFs: 5
Defined: 125736
p: 0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.37	462	553	0.836	0.0000307	6841
Missense (PolyPhen)		25	39.227	0.63732		450
Synonymous	-0.407	207	200	1.04	0.0000103	1910
Loss of Function	5.14	3	36.5	0.0822	0.00000201	439

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000058	0.000058	rare
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	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

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

Recessive Scores

pRec: 0.102

Intolerance Scores

LoFtool: 0.0275
RVIS EVS: -0.44
RVIS percentile EVS: 24.6

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: E
Indispensability score: 0.567

Gene Damage Prediction

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