ZNF804B

protein-coding

zinc finger protein 804B, the group of Zinc fingers C2H2-type

Gene summary

Predicted to enable zinc ion binding activity. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_181646.5

Inheritance

—

ClinVar variants

U:173B:30

Top phenotype

Normal pregnancy

gnomAD constraint

pLI —, LoF o/e 0.75

Max pathogenic AF

—

Genomic locus

chr7:88,759,700-89,338,528

External References & Databases

Ensembl (ENSG00000182348)

Transcript & Mutation Effects

hg38 • Region Span ~578.8 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 ZNF804B variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 187

not providedTotal: 17

Normal pregnancyTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_181646.5. 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				2 clinvar	4 clinvar	6
missense			173 clinvar	14 clinvar	10 clinvar	197
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	173	16	14	203

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 4 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_181646.5	RefSeq	NP_857597.1	4	MANE Select
ENST00000333190.5	Ensembl	ENSP00000329638.4	4	MANE Select
ENST00000611114.1	Ensembl	ENSP00000478506.1	2	Standard
ENST00000611114.2	Ensembl	ENSP00000478506.1	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

Molecular Function

nucleic acid binding
metal ion binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000333190
Coding exons: 4
Length: 577665
Individuals with no LoFs: 125649
Homozygous LoFs: 0
Heterozygous LoFs: 99
Defined: 125748
p: 0.000394

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.751	726	671	1.08	0.0000322	8949
Missense (PolyPhen)		168	161.32	1.0414		2233
Synonymous	-1.72	286	251	1.14	0.0000127	2484
Loss of Function	1.55	33	44.1	0.749	0.00000217	632

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.00070	0.00069	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00049	0.00049	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00041	0.00040	rare
South Asian	0.00036	0.00036	rare
Other	0.00049	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.872
RVIS EVS: 3.37
RVIS percentile EVS: 99.44

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0373

Gene Damage Prediction

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