NUDCD3

Chr 7

NudC domain containing 3

Also known as: NudCL

NCBI Gene: 23386ENSG00000015676UniProt: Q8IVD9

The product of this gene functions to maintain the stability of dynein intermediate chain. Depletion of this gene product results in aggregation and degradation of dynein intermediate chain, mislocalization of the dynein complex from kinetochores, spindle microtubules, and spindle poles, and loss of gamma-tubulin from spindle poles. The protein localizes to the Golgi apparatus during interphase, and levels of the protein increase after the G1/S transition. [provided by RefSeq, Jul 2008]

0
Active trials
0
Pathogenic / LP
0
ClinVar variants
1
Pubs (1 yr)
0.9
Missense Z
0.49
LOEUF
Clinical Summary— NUDCD3
🧬
Gene-Disease Validity (ClinGen)
severe combined immunodeficiency · ARLimited

Limited evidence — not for standalone diagnostic reporting

⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.21) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.49LOEUF
pLI 0.448
Z-score 3.14
OE 0.21 (0.10–0.49)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.85Z-score
OE missense 0.83 (0.73–0.95)
172 obs / 206.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.21 (0.10–0.49)
0≤0.351.4
Missense OE0.83 (0.73–0.95)
0≤0.61.4
Synonymous OE1.03
0≤1.21.6
LoF obs/exp: 4 / 18.6Missense obs/exp: 172 / 206.4Syn Z: -0.23

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

NUDCD3 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Gene Expression Profiles of Long-Chain Acyl-Coenzyme A Dehydrogenase, Nuclear Distribution C-Containing Protein 3, and Receptor Tyrosine Kinase Tie-1 in Swimming Larva of Sea Cucumber Apostichopus japonicus
Kim S et al.·Dev Reprod
2023
A paediatric dysembryoplastic neuroepithelial tumour (DNET) with deregulated stem cell markers: a case report
Hussein D et al.·Transl Pediatr
2022Case report
Mutations in Hsp90 Cochaperones Result in a Wide Variety of Human Disorders
Johnson JL·Front Mol Biosci
2021
Distinct DNA methylation signatures associated with blood lipids as exposures or outcomes among survivors of childhood cancer: a report from the St. Jude lifetime cohort
Dong Q et al.·Clin Epigenetics
2023Cohort
Identifying key m6A-methylated lncRNAs and genes associated with neural tube defects via integrative MeRIP and RNA sequencing analyses
Yang J et al.·Front Genet
2022
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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