ZNF276

Chr 16

zinc finger protein 276

Also known as: CENP-Z, CENPZ, ZADT, ZFP276, ZNF477

NCBI Gene: 92822 ENSG00000158805 UniProt: Q8N554

ZNF276 encodes a transcription factor that binds to specific DNA sequences and regulates gene expression by RNA polymerase II, with additional localization to the kinetochore during cell division. Mutations cause autosomal recessive neurodevelopmental disorder with seizures, microcephaly, and developmental delay. The gene is highly constrained against loss-of-function variants in the general population.

ResearchSummary from RefSeq, UniProt

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in kinetochore. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

LOEUF 0.75

Clinical Summary— ZNF276

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

160 unique Pathogenic / Likely Pathogenic· 563 VUS of 1168 total submissions

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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.75LOEUF

pLI 0.000

Z-score 2.56

OE 0.47 (0.31–0.75)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

-1.77Z-score

OE missense 1.27 (1.17–1.37)

439 obs / 346.5 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.47 (0.31–0.75)

0≤0.351.4

Missense OE?1.27 (1.17–1.37)

0≤0.61.4

Synonymous OE?1.48

0≤1.21.6

LoF obs/exp: 13 / 27.5Missense obs/exp: 439 / 346.5Syn Z: -4.62

ClinVar Variant Classifications

1168 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic102

Likely Pathogenic58

VUS563

Likely Benign329

Benign25

Conflicting56

102

Pathogenic

Likely Pathogenic

563

VUS

329

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	56	9	37	0	102
Likely Pathogenic	49	7	2	0	58
VUS	15	486	57	5	563
Likely Benign	1	40	133	155	329
Benign	0	2	22	1	25
Conflicting	—				56
Total	121	544	251	161	1,133

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

44 pathogenic / likely-pathogenic (of 81) ClinVar copy-number / structural variants overlap ZNF276 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →