ZNF74

protein-coding

zinc finger protein 74, the group of Zinc fingers C2H2-type

Gene summary

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_003426.4

Inheritance

—

ClinVar variants

U:95B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.56

Max pathogenic AF

—

Genomic locus

chr22:20,394,115-20,408,461

External References & Databases

Ensembl (ENSG00000185252)

Transcript & Mutation Effects

hg38 • Region Span ~14.3 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 ZNF74 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 99

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_003426.4. 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 clinvar		2
missense			94 clinvar	5 clinvar		99
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	95	6	0	101

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 23 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_003426.4	RefSeq	NP_003417.2	5	MANE Select
ENST00000400451.7	Ensembl	ENSP00000383301.2	5	MANE Select
NM_001256523.2	RefSeq	NP_001243452.1	4	Standard
NM_001256524.2	RefSeq	NP_001243453.1	5	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, DNA-templated
regulation of transcription by RNA polymerase II
multicellular organism development

Molecular Function

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

Cellular Component

nucleoplasm
actin cytoskeleton

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000400451
Coding exons: 5
Length: 14341
Individuals with no LoFs: 125679
Homozygous LoFs: 0
Heterozygous LoFs: 65
Defined: 125744
p: 0.000258

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.14	371	438	0.846	0.0000307	4227
Missense (PolyPhen)		136	209	0.65073		2123
Synonymous	1.07	183	202	0.905	0.0000165	1241
Loss of Function	1.97	13	23.2	0.560	0.00000109	234

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00032	0.00031	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00050	0.00049	rare
Finnish	0.0010	0.00097	notable
European (Non-Finnish)	0.00023	0.00022	rare
South Asian	0.000034	0.000033	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in RNA metabolism.;

Recessive Scores

pRec: 0.115

Intolerance Scores

LoFtool: 0.580
RVIS EVS: -0.22
RVIS percentile EVS: 37.54

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.965

Gene Damage Prediction

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