ZNF764

protein-coding

zinc finger protein 764, the group of Zinc fingers C2H2-type

Gene summary

Enables transcription coregulator activity. Involved in cellular response to glucocorticoid stimulus. Is active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001172679.2

Inheritance

—

ClinVar variants

U:79B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.65

Max pathogenic AF

—

Genomic locus

chr16:30,553,764-30,558,374

External References & Databases

Ensembl (ENSG00000169951)

Transcript & Mutation Effects

hg38 • Region Span ~4.6 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 ZNF764 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 85

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001172679.2. 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						0
missense			79 clinvar	6 clinvar		85
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	79	6	0	85

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 8 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001172679.2	RefSeq	NP_001166150.1	3	MANE Select
ENST00000395091.3	Ensembl	ENSP00000378526.2	3	MANE Select
NM_033410.4	RefSeq	NP_219363.2	3	Standard
ENST00000252797.6	Ensembl	ENSP00000252797.2	3	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
protein binding
metal ion binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000252797
Coding exons: 3
Length: 4735
Individuals with no LoFs: 125663
Homozygous LoFs: 1
Heterozygous LoFs: 83
Defined: 125747
p: 0.000334

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.447	288	267	1.08	0.0000184	2556
Missense (PolyPhen)		104	97.765	1.0638		1036
Synonymous	-0.510	126	119	1.06	0.00000867	856
Loss of Function	1.14	8	12.3	0.649	5.29e-7	139

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00041	0.00037	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0024	0.0023	notable
Finnish	0.00011	0.000092	rare
European (Non-Finnish)	0.00026	0.00024	rare
South Asian	0.00010	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

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

Recessive Scores

pRec: 0.101

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.923

Gene Damage Prediction

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