ZNF35

protein-coding

zinc finger protein 35, the group of Zinc fingers C2H2-type

Gene summary

Enables DNA-binding transcription factor activity and sequence-specific DNA binding activity. Predicted to be involved in cellular response to retinoic acid; regulation of transcription by RNA polymerase II; and spermatogenesis. Located in nucleus and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_003420.4

Inheritance

—

ClinVar variants

U:65

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.31

Max pathogenic AF

—

Genomic locus

chr3:44,648,732-44,660,791

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~12.1 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 ZNF35 variants in ClinVar

1 Conditions Cataloged
not specifiedTotal: 65

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_003420.4. 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
65
clinvar
65
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total00650065
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 24 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_003420.4RefSeqNP_003411.33MANE Select
ENST00000396056.7EnsemblENSP00000379368.23MANE Select
ENST00000296092.7EnsemblENSP00000296092.32Standard
ENST00000296092.8EnsemblENSP00000296092.32Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

  • regulation of transcription, DNA-templated
  • regulation of transcription by RNA polymerase II
  • spermatogenesis
  • cellular response to retinoic acid

Molecular Function

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

Cellular Component

  • cell
  • nucleus
  • perinuclear region of cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000396056
Coding exons
3
Length
12065
Individuals with no LoFs
125705
Homozygous LoFs
0
Heterozygous LoFs
42
Defined
125747
p
0.000167
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense1.362122750.7700.00001323499
Missense (PolyPhen)58100.920.57471308
Synonymous-0.6121091011.080.00000531952
Loss of Function2.85619.60.3059.94e-7266

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000440.00043rare
Latino/Admixed American0.0000590.000058rare
Ashkenazi Jewish00.0absent
East Asian0.000270.00027rare
Finnish0.0000460.000046rare
European (Non-Finnish)0.000110.00011rare
South Asian0.000460.00046rare
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: May be involved in transcriptional regulation. Involved in cell differentiation and/or proliferation.;

Recessive Scores

pRec
0.0987

Intolerance Scores

LoFtool
0.693
RVIS EVS
-0.49
RVIS percentile EVS
22.36

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
E
Indispensability score
0.992

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium
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