ZNF276

Chr 16

zinc finger protein 276

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

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.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.75
Clinical SummaryZNF276
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.75LOEUF
pLI 0.000
Z-score 2.56
OE 0.47 (0.310.75)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-1.77Z-score
OE missense 1.27 (1.171.37)
439 obs / 346.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.47 (0.310.75)
00.351.4
Missense OE1.27 (1.171.37)
00.61.4
Synonymous OE1.48
01.21.6
LoF obs/exp: 13 / 27.5Missense obs/exp: 439 / 346.5Syn Z: -4.62

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ZNF276 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC