ZNF664

protein-coding

zinc finger protein 664, 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 cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:
  • ZNF176

MANE transcript

NM_152437.3

Inheritance

—

ClinVar variants

U:17B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.72

Max pathogenic AF

—

Genomic locus

chr12:123,971,845-124,015,439

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~43.6 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 ZNF664 variants in ClinVar

2 Conditions Cataloged
not specifiedTotal: 17
not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152437.3. 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
17
clinvar
17
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total00171018
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 101 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_152437.3RefSeqNP_689650.11MANE Select
ENST00000337815.9EnsemblENSP00000337320.41MANE Select
NM_001204298.2RefSeqNP_001191227.11Standard
ENST00000392404.7EnsemblENSP00000376205.31Standard

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
  • biological_process

Molecular Function

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

Cellular Component

  • nucleus

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000539644
Coding exons
1
Length
43595
Individuals with no LoFs
125677
Homozygous LoFs
0
Heterozygous LoFs
59
Defined
125736
p
0.000235
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense2.42571370.4170.000006631773
Missense (PolyPhen)1750.7930.33469667
Synonymous-1.646348.41.300.00000266420
Loss of Function0.68856.960.7192.99e-7119

Population LoF Frequency

PopulationCAFp-valueStatus
African00.0absent
Latino/Admixed American00.0absent
Ashkenazi Jewish0.00410.0041notable
East Asian00.0absent
Finnish0.0000460.000046rare
European (Non-Finnish)0.000120.00011rare
South Asian0.0000650.000065rare
Other0.000330.00033rare

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: May be involved in transcriptional regulation.;

Recessive Scores

pRec
0.124

Intolerance Scores

LoFtool
0.424
RVIS EVS
0.35
RVIS percentile EVS
73.97

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.450

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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