ZNF268

protein-coding

zinc finger protein 268, the group of Zinc fingers C2H2-type

Gene summary

Predicted to enable transcription cis-regulatory region binding activity. Involved in several processes, including positive regulation of protein metabolic process; regulation of apoptotic process; and regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_003415.3

Inheritance

—

ClinVar variants

U:156B:14

Top phenotype

EBV-positive nodal T- and NK-cell lymphoma

gnomAD constraint

pLI —, LoF o/e 0.71

Max pathogenic AF

—

Genomic locus

chr12:133,181,409-133,214,832

External References & Databases

Ensembl (ENSG00000090612)

Transcript & Mutation Effects

hg38 • Region Span ~33.4 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 ZNF268 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 162

not providedTotal: 3

EBV-positive nodal T- and NK-cell lymphomaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_003415.3. 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	5 clinvar		6
missense			153 clinvar	9 clinvar		162
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	156	14	0	170

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 44 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_003415.3	RefSeq	NP_003406.1	5	MANE Select
ENST00000536435.7	Ensembl	ENSP00000444412.3	5	MANE Select
NM_001165881.3	RefSeq	NP_001159353.1	5	Standard
NM_001165882.3	RefSeq	NP_001159354.1	3	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

negative regulation of transcription by RNA polymerase II
regulation of transcription, DNA-templated
regulation of mitotic cell cycle
positive regulation of cell population proliferation
negative regulation of cell population proliferation

Molecular Function

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

Cellular Component

nucleus
cytoplasm
cytosol
actin cytoskeleton

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000536435
Coding exons: 5
Length: 76129
Individuals with no LoFs: 125325
Homozygous LoFs: 0
Heterozygous LoFs: 101
Defined: 125426
p: 0.000403

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.437	443	470	0.943	0.0000215	6220
Missense (PolyPhen)		160	171.52	0.93285		2326
Synonymous	0.347	158	164	0.966	0.00000774	1620
Loss of Function	1.59	26	36.4	0.715	0.00000172	516

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00065	0.00057	rare
Latino/Admixed American	0.00063	0.00058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000055	0.000054	rare
Finnish	0.00024	0.00023	rare
European (Non-Finnish)	0.00051	0.00048	rare
South Asian	0.00016	0.00016	rare
Other	0.0012	0.0011	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Isoform 1: Acts as a transcriptional repressor. Inhibits erythroid differentiation and tumor cell proliferation. Plays a role during ovarian cancer development and progression.;

Intolerance Scores

RVIS EVS: 1.38
RVIS percentile EVS: 94.57

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0186

Gene Damage Prediction

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