ZNF441

protein-coding

zinc finger protein 441, 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 transcription regulatory region sequence-specific DNA 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, Jul 2025]

MANE transcript

NM_152355.3

Inheritance

—

ClinVar variants

U:76B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.22

Max pathogenic AF

—

Genomic locus

chr19:11,767,000-11,784,078

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~17.1 kb
Loading mutation effect viewer...

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 ZNF441 variants in ClinVar

2 Conditions Cataloged
not specifiedTotal: 73
not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152355.3. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
3
clinvar
4
missense
76
clinvar
76
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total00761380
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_152355.3RefSeqNP_689568.24MANE Select
ENST00000357901.5EnsemblENSP00000350576.44MANE Select
ENST00000409902.5EnsemblENSP00000386658.23Standard

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
ENST00000357901
Coding exons
4
Length
17079
Individuals with no LoFs
125555
Homozygous LoFs
0
Heterozygous LoFs
1
Defined
125556
p
0.00000398
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense1.562853690.7720.00001744646
Missense (PolyPhen)89123.230.722221504
Synonymous-0.3171271231.040.000006181182
Loss of Function1.5714.650.2151.97e-758

Population LoF Frequency

PopulationCAFp-valueStatus
African00.0absent
Latino/Admixed American00.0absent
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish00.0absent
European (Non-Finnish)0.00000880.0000088rare
South Asian00.0absent
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: May be involved in transcriptional regulation.;

Intolerance Scores

LoFtool
0.694
RVIS EVS
0.64
RVIS percentile EVS
84.05

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.416

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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