ZNF766

protein-coding

zinc finger protein 766, the group of Zinc fingers C2H2-type|MicroRNA protein coding host genes

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 centrosome. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001010851.3

Inheritance

—

ClinVar variants

U:60

Top phenotype

Hypercalcemia, infantile, 1

gnomAD constraint

pLI —, LoF o/e 1.2

Max pathogenic AF

—

Genomic locus

chr19:52,269,587-52,296,046

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~26.5 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 ZNF766 variants in ClinVar

3 Conditions Cataloged
not specifiedTotal: 55
not providedTotal: 1
Hypercalcemia, infantile, 1Total: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001010851.3. 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
1
missense
58
clinvar
58
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total00600060
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_001010851.3RefSeqNP_001010851.14MANE Select
ENST00000439461.6EnsemblENSP00000409652.14MANE Select
ENST00000593612.1EnsemblENSP00000468950.15Standard
ENST00000593612.2EnsemblENSP00000468950.15Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

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
ENST00000439461
Coding exons
4
Length
23154
Individuals with no LoFs
124920
Homozygous LoFs
0
Heterozygous LoFs
7
Defined
124927
p
0.0000280
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense0.1132382430.9800.00001123111
Missense (PolyPhen)6478.4240.816081068
Synonymous-0.03728786.61.010.00000419825
Loss of Function-0.44875.831.202.56e-766

Population LoF Frequency

PopulationCAFp-valueStatus
African0.0000650.000065rare
Latino/Admixed American0.0000290.000029rare
Ashkenazi Jewish00.0absent
East Asian0.000110.00011rare
Finnish00.0absent
European (Non-Finnish)0.0000200.000018rare
South Asian0.0000330.000033rare
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: May be involved in transcriptional regulation.;

Intolerance Scores

LoFtool
0.876
RVIS EVS
-0.51
RVIS percentile EVS
21.65

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.337

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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