ZNF618

protein-coding

zinc finger protein 618, the group of Zinc fingers C2H2-type

Gene summary

Enables chromatin-protein adaptor activity; identical protein binding activity; and transcription coregulator binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in pericentric heterochromatin. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001318042.2

Inheritance

—

ClinVar variants

U:130B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.12

Max pathogenic AF

—

Genomic locus

chr9:113,876,282-114,056,593

External References & Databases

Ensembl (ENSG00000157657)

Transcript & Mutation Effects

hg38 • Region Span ~180.3 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 ZNF618 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 123

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001318042.2. 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.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	2 clinvar	1 clinvar	5
missense			123 clinvar	1 clinvar		124
nonsense			3 clinvar			3
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	130	3	1	134

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 157 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001318042.2	RefSeq	NP_001304971.1	15	MANE Select
ENST00000374126.10	Ensembl	ENSP00000363241.5	15	MANE Select
NM_001318040.2	RefSeq	NP_001304969.1	14	Standard
NM_001318041.2	RefSeq	NP_001304970.1	14	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

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: ENST00000288466
Coding exons: 14
Length: 180310
Individuals with no LoFs: 124646
Homozygous LoFs: 0
Heterozygous LoFs: 8
Defined: 124654
p: 0.0000321

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.50	379	543	0.698	0.0000360	5648
Missense (PolyPhen)		144	262.07	0.54948		2715
Synonymous	0.00295	244	244	1.00	0.0000193	1639
Loss of Function	5.20	5	40.8	0.122	0.00000192	475

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00013	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000056	0.000056	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000018	0.000018	rare
South Asian	0.000066	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

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

Recessive Scores

pRec: 0.111

Intolerance Scores

LoFtool: 0.452
RVIS EVS: -2.48
RVIS percentile EVS: 0.96

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.214

Gene Damage Prediction

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