ZNF85

protein-coding

zinc finger protein 85, the group of Zinc fingers C2H2-type

Gene summary

Enables DNA-binding transcription repressor 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 nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_003429.5

Inheritance

—

ClinVar variants

U:93B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.19

Max pathogenic AF

—

Genomic locus

chr19:20,923,222-20,950,697

External References & Databases

Ensembl (ENSG00000105750)

Transcript & Mutation Effects

hg38 • Region Span ~27.5 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 ZNF85 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 88

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_003429.5. 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.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			89 clinvar	1 clinvar		90
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	93	1	0	94

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 41 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_003429.5	RefSeq	NP_003420.2	4	MANE Select
ENST00000328178.13	Ensembl	ENSP00000329793.7	4	MANE Select
NM_001256171.2	RefSeq	NP_001243100.1	5	Standard
NM_001256172.2	RefSeq	NP_001243101.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of transcription by RNA polymerase II
negative regulation of nucleic acid-templated transcription

Molecular Function

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

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000328178
Coding exons: 4
Length: 27476
Individuals with no LoFs: 125488
Homozygous LoFs: 2
Heterozygous LoFs: 242
Defined: 125732
p: 0.000971

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.45	363	293	1.24	0.0000132	3932
Missense (PolyPhen)		83	73.445	1.1301		1115
Synonymous	-0.571	107	99.7	1.07	0.00000464	1009
Loss of Function	-0.390	6	5.05	1.19	2.14e-7	62

Population LoF Frequency

Population	CAF	p-value	Status
African	0.014	0.014	notable
Latino/Admixed American	0.00047	0.00046	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000027	0.000026	rare
South Asian	0	0.0	absent
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be a transcriptional repressor. {ECO:0000269|PubMed:9839802}.;

Recessive Scores

pRec: 0.107

Intolerance Scores

LoFtool: 0.697
RVIS EVS: 2.58
RVIS percentile EVS: 98.75

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0959

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium