NDC80

Chr 18

NDC80 kinetochore complex component

Also known as: HEC, HEC1, HsHec1, KNTC2, TID3, hsNDC80

NCBI Gene: 10403ENSG00000080986UniProt: O14777OMIM: 607272

This gene encodes a component of the NDC80 kinetochore complex. The encoded protein consists of an N-terminal microtubule binding domain and a C-terminal coiled-coiled domain that interacts with other components of the complex. This protein functions to organize and stabilize microtubule-kinetochore interactions and is required for proper chromosome segregation. [provided by RefSeq, Oct 2011]

OMIMResearchGenerating clinical summary…
1
Active trials
53
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.70
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.70LOEUF
pLI 0.000
Z-score 3.03
OE 0.47 (0.33–0.70)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.84Z-score
OE missense 0.71 (0.64–0.79)
224 obs / 315.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.47 (0.33–0.70)
0≤0.351.4
Missense OE?0.71 (0.64–0.79)
0≤0.61.4
Synonymous OE?0.87
0≤1.21.6
LoF obs/exp: 18 / 38.2Missense obs/exp: 224 / 315.9Syn Z: 1.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NDC80 · 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