NUF2

Chr 1

NUF2 component of NDC80 kinetochore complex

Also known as: CDCA1, CT106, NUF2R

NCBI Gene: 83540ENSG00000143228UniProt: Q9BZD4

This gene encodes a protein that is highly similar to yeast Nuf2, a component of a conserved protein complex associated with the centromere. Yeast Nuf2 disappears from the centromere during meiotic prophase when centromeres lose their connection to the spindle pole body, and plays a regulatory role in chromosome segregation. The encoded protein is found to be associated with centromeres of mitotic HeLa cells, which suggests that this protein is a functional homolog of yeast Nuf2. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
1
Active trials
42
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.71
LOEUF
DN
Mechanism· predicted
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?
0.71LOEUF
pLI 0.000
Z-score 2.71
OE 0.44 (0.28–0.71)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.37Z-score
OE missense 0.75 (0.66–0.85)
173 obs / 231.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.44 (0.28–0.71)
0≤0.351.4
Missense OE?0.75 (0.66–0.85)
0≤0.61.4
Synonymous OE?0.88
0≤1.21.6
LoF obs/exp: 12 / 27.3Missense obs/exp: 173 / 231.7Syn Z: 0.86

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NUF2 · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients