ZNF786

protein-coding

zinc finger protein 786, the group of Zinc fingers C2H2-type

Gene summary

Predicted to enable transcription cis-regulatory region binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_152411.4

Inheritance

—

ClinVar variants

U:143B:14

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.8

Max pathogenic AF

—

Genomic locus

chr7:149,069,641-149,090,782

External References & Databases

Ensembl (ENSG00000197362)

Transcript & Mutation Effects

hg38 • Region Span ~21.1 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 ZNF786 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 152

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152411.4. 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.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			140 clinvar	14 clinvar		154
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	143	14	0	157

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 13 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152411.4	RefSeq	NP_689624.2	4	MANE Select
ENST00000491431.2	Ensembl	ENSP00000417470.1	4	MANE Select
ENST00000316286.13	Ensembl	ENSP00000313516.9	2	Standard
ENST00000316286.14	Ensembl	ENSP00000313516.9	2	Standard

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

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: ENST00000491431
Coding exons: 4
Length: 21140
Individuals with no LoFs: 124710
Homozygous LoFs: 1
Heterozygous LoFs: 163
Defined: 124874
p: 0.000657

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.45	587	496	1.18	0.0000329	5170
Missense (PolyPhen)		184	164.33	1.1197		1861
Synonymous	-1.80	240	207	1.16	0.0000149	1481
Loss of Function	0.975	21	26.4	0.795	0.00000128	301

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00026	0.00026	rare
Latino/Admixed American	0.00081	0.00081	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00033	0.00033	rare
Finnish	0.00084	0.00084	rare
European (Non-Finnish)	0.00051	0.00046	rare
South Asian	0.0016	0.0016	notable
Other	0.0012	0.0012	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in transcriptional regulation.;

Intolerance Scores

LoFtool: 0.666
RVIS EVS: -0.84
RVIS percentile EVS: 11.36

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.531

Gene Damage Prediction

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