ZNF76

protein-coding

zinc finger protein 76, the group of Zinc fingers C2H2-type

Gene summary

Enables DNA-binding transcription activator activity, RNA polymerase II-specific; DNA-binding transcription repressor activity, RNA polymerase II-specific; and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II and positive regulation of transcription by RNA polymerase II. Is active in chromatin. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

D6S229E

MANE transcript

NM_003427.5

Inheritance

—

ClinVar variants

U:108B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.95

Max pathogenic AF

—

Genomic locus

chr6:35,258,909-35,295,985

External References & Databases

Ensembl (ENSG00000065029)

Transcript & Mutation Effects

hg38 • Region Span ~37.1 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 ZNF76 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 96

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_003427.5. 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			4 clinvar			4
missense			98 clinvar	3 clinvar		101
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	108	3	0	111

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 129 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_003427.5	RefSeq	NP_003418.2	13	MANE Select
ENST00000373953.8	Ensembl	ENSP00000363064.3	13	MANE Select
NM_001292032.2	RefSeq	NP_001278961.1	12	Standard
ENST00000229405.8	Ensembl	ENSP00000229405.4	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of transcription by RNA polymerase II
regulation of transcription by RNA polymerase III
positive regulation of transcription by RNA polymerase II

Molecular Function

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

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000373953
Coding exons: 13
Length: 37077
Individuals with no LoFs: 125614
Homozygous LoFs: 0
Heterozygous LoFs: 134
Defined: 125748
p: 0.000533

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.455	336	360	0.933	0.0000218	3702
Missense (PolyPhen)		98	104.13	0.94116		1039
Synonymous	-0.00556	147	147	1.00	0.00000975	1138
Loss of Function	0.241	29	30.4	0.953	0.00000160	331

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0033	0.0033	notable
Latino/Admixed American	0.00061	0.00061	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.00016	0.00016	rare
Finnish	0.000093	0.000092	rare
European (Non-Finnish)	0.00037	0.00036	rare
South Asian	0.00033	0.00033	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

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

Recessive Scores

pRec: 0.105

Intolerance Scores

RVIS EVS: 0.4
RVIS percentile EVS: 76.49

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.969

Gene Damage Prediction

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