ZBTB10

protein-coding

zinc finger and BTB domain containing 10, the group of Zinc fingers C2H2-type|BTB domain containing

Gene summary

Enables telomeric repeat DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Located in chromosome, telomeric region and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001105539.3

Inheritance

—

ClinVar variants

U:133B:4

Top phenotype

See cases

gnomAD constraint

pLI —, LoF o/e 0.13

Max pathogenic AF

—

Genomic locus

chr8:80,485,619-80,526,265

External References & Databases

Ensembl (ENSG00000205189)

Transcript & Mutation Effects

hg38 • Region Span ~40.6 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 ZBTB10 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 124

not providedTotal: 6

See casesTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001105539.3. 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
missense			123 clinvar	4 clinvar		127
nonsense			5 clinvar			5
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	133	4	0	137

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 17 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001105539.3	RefSeq	NP_001099009.1	6	MANE Select
ENST00000455036.8	Ensembl	ENSP00000412036.3	6	MANE Select
NM_001277145.2	RefSeq	NP_001264074.1	6	Standard
NM_023929.5	RefSeq	NP_076418.3	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

DNA binding
protein binding
metal ion binding

Cellular Component

nucleoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000430430
Coding exons: 6
Length: 40647
Individuals with no LoFs: 124612
Homozygous LoFs: 0
Heterozygous LoFs: 3
Defined: 124615
p: 0.0000120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.02	316	434	0.728	0.0000207	5654
Missense (PolyPhen)		69	149.42	0.46178		1964
Synonymous	-2.15	201	166	1.21	0.00000814	1676
Loss of Function	4.56	4	31.7	0.126	0.00000174	393

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000089	0.0000089	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

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

Recessive Scores

pRec: 0.0978

Intolerance Scores

LoFtool: 0.229
RVIS EVS: -0.16
RVIS percentile EVS: 41.91

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.261

Gene Damage Prediction

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