ZNF808

protein-coding

zinc finger protein 808, the group of Zinc fingers C2H2-type

Gene summary

Enables transcription cis-regulatory region binding activity. Involved in cell differentiation; negative regulation of gene expression; and pancreas development. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001039886.4

Inheritance

ClinVar variants

P:10U:150B:23

Top phenotype

Pancreatic agenesis 3

gnomAD constraint

pLI —, LoF o/e 0.26

Max pathogenic AF

—

Genomic locus

chr19:52,527,652-52,564,464

External References & Databases

Ensembl (ENSG00000198482)

Transcript & Mutation Effects

hg38 • Region Span ~36.8 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

pancreatic agenesis 3STRONG

Inheritance Pattern: AR

Disease ID:MONDO:0975839

Submitter: PanelApp Australia

Clinical Genomic Database (CGD)

Pancreatic agenesis 3AR

Manifestation: Endocrine

Intervention: Endocrine

Rationale: The condition can manifest with neonatal diabetes mellitus and exocrine pancreatic insufficiency, and awareness may allow prompt medical management

Refs: 37308312; 7973953

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ZNF808 variants in ClinVar

6 Conditions Cataloged

not specifiedTotal: 165

not providedTotal: 7

Pancreatic agenesis 3Total: 7

Permanent neonatal diabetes mellitusTotal: 1

See casesTotal: 1

Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophyTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001039886.4. 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				1 clinvar	2 clinvar	3
missense			148 clinvar	18 clinvar	2 clinvar	168
nonsense	1 clinvar	2 clinvar	1 clinvar			4
start loss						0
frameshift	4 clinvar	3 clinvar	1 clinvar			8
splice donor/acceptor (+/-2bp)						0
Total	5	5	150	19	4	183

Highest pathogenic variant AF is 6.84061e-7

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 25 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001039886.4	RefSeq	NP_001034975.2	3	MANE Select
ENST00000359798.9	Ensembl	ENSP00000352846.4	3	MANE Select
NM_001321424.2	RefSeq	NP_001308353.1	3	Standard
NM_001321425.2	RefSeq	NP_001308354.1	3	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: ENST00000359798
Coding exons: 3
Length: 36813
Individuals with no LoFs: 125541
Homozygous LoFs: 0
Heterozygous LoFs: 3
Defined: 125544
p: 0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.962	539	480	1.12	0.0000268	5982
Missense (PolyPhen)		188	193.18	0.97318		2609
Synonymous	-2.76	206	161	1.28	0.00000811	1616
Loss of Function	1.35	1	3.85	0.260	1.63e-7	48

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000026	0.000026	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

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

Intolerance Scores

LoFtool: 0.855
RVIS EVS: 0.67
RVIS percentile EVS: 84.74

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0746

Gene Damage Prediction

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