ZNF527

protein-coding

zinc finger protein 527, the group of Zinc fingers C2H2-type

Gene summary

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_032453.2

Inheritance

—

ClinVar variants

U:58B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.4

Max pathogenic AF

—

Genomic locus

chr19:37,371,061-37,393,066

External References & Databases

Ensembl (ENSG00000189164)

Transcript & Mutation Effects

hg38 • Region Span ~22.0 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 ZNF527 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 57

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032453.2. 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			57 clinvar	2 clinvar		59
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	58	2	0	60

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 19 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032453.2	RefSeq	NP_115829.1	4	MANE Select
ENST00000436120.7	Ensembl	ENSP00000390179.2	4	MANE Select
ENST00000356178.8	Ensembl	ENSP00000348501.4	3	Standard
ENST00000483919.5	Ensembl	ENSP00000468344.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of transcription, DNA-templated

Molecular Function

DNA binding
metal ion binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000436120
Coding exons: 4
Length: 22006
Individuals with no LoFs: 118240
Homozygous LoFs: 860
Heterozygous LoFs: 6294
Defined: 125394
p: 0.0289

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.02	271	323	0.840	0.0000154	4097
Missense (PolyPhen)		67	100.33	0.66777		1263
Synonymous	1.17	99	115	0.861	0.00000612	1030
Loss of Function	2.68	9	22.8	0.395	0.00000102	320

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0094	0.0053	notable
Latino/Admixed American	0.022	0.012	notable
Ashkenazi Jewish	0.096	0.041	notable
East Asian	0.024	0.013	notable
Finnish	0.060	0.026	notable
European (Non-Finnish)	0.095	0.042	notable
South Asian	0.044	0.022	notable
Other	0.053	0.025	notable

dbNSFP Gene Annotations

Source: dbNSFP

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

Intolerance Scores

LoFtool: 0.767
RVIS EVS: -0.2
RVIS percentile EVS: 38.98

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.200

Gene Damage Prediction

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