ZNF226

protein-coding

zinc finger protein 226, the group of Zinc fingers C2H2-type

Gene summary

Predicted to enable transcription cis-regulatory region 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, Jun 2026]

MANE transcript

NM_001032373.2

Inheritance

—

ClinVar variants

U:133B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.83

Max pathogenic AF

—

Genomic locus

chr19:44,165,073-44,178,381

External References & Databases

Ensembl (ENSG00000167380)

Transcript & Mutation Effects

hg38 • Region Span ~13.3 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 ZNF226 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 138

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001032373.2. 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						0
missense			131 clinvar	8 clinvar		139
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	133	8	0	141

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 97 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001032373.2	RefSeq	NP_001027545.1	4	MANE Select
ENST00000337433.10	Ensembl	ENSP00000336719.5	4	MANE Select
NM_001032372.2	RefSeq	NP_001027544.1	4	Standard
NM_001032374.2	RefSeq	NP_001027546.1	4	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: ENST00000590089
Coding exons: 4
Length: 13309
Individuals with no LoFs: 125337
Homozygous LoFs: 1
Heterozygous LoFs: 410
Defined: 125748
p: 0.00164

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.833	465	417	1.11	0.0000202	5364
Missense (PolyPhen)		195	167.21	1.1662		2182
Synonymous	-1.29	165	145	1.14	0.00000700	1388
Loss of Function	0.867	25	30.1	0.830	0.00000154	411

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0011	0.0010	notable
Latino/Admixed American	0.0019	0.0011	notable
Ashkenazi Jewish	0.00050	0.00050	rare
East Asian	0.0061	0.0060	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00094	0.00090	rare
South Asian	0.0045	0.0045	notable
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

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

Intolerance Scores

LoFtool: 0.983
RVIS EVS: -0.42
RVIS percentile EVS: 25.83

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.755

Gene Damage Prediction

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