ZNF177

protein-coding

zinc finger protein 177, the group of Zinc fingers C2H2-type

Gene summary

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in blood microparticle. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001172651.2

Inheritance

—

ClinVar variants

U:33B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.67

Max pathogenic AF

—

Genomic locus

chr19:9,363,013-9,382,617

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~19.6 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 ZNF177 variants in ClinVar

1 Conditions Cataloged
not specifiedTotal: 35

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001172651.2. 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.

EffectPLPVUSLBBSum
synonymous
0
missense
33
clinvar
2
clinvar
35
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total00332035
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_001172651.2RefSeqNP_001166122.15MANE Select
ENST00000683217.1EnsemblENSP00000507083.15MANE Select
NM_001384658.1RefSeqNP_001371587.15Standard
NM_003451.3RefSeqNP_003442.25Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

  • negative regulation of transcription by RNA polymerase II

Molecular Function

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

Cellular Component

  • nucleus
  • blood microparticle

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000434737
Coding exons
5
Length
58273
Individuals with no LoFs
125674
Homozygous LoFs
0
Heterozygous LoFs
70
Defined
125744
p
0.000278
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense-0.7142742431.130.00001113198
Missense (PolyPhen)10695.9271.1051272
Synonymous-2.1910983.51.310.00000372847
Loss of Function1.221116.30.6756.80e-7245

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000920.00092rare
Latino/Admixed American0.000180.00017rare
Ashkenazi Jewish0.0000990.000099rare
East Asian0.000710.00071rare
Finnish0.000180.00018rare
European (Non-Finnish)0.000210.00021rare
South Asian0.000200.00020rare
Other0.000160.00016rare

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: May be involved in transcriptional regulation.;

Recessive Scores

pRec
0.0817

Intolerance Scores

LoFtool
0.978
RVIS EVS
0.46
RVIS percentile EVS
78.69

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.0431

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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