CEP44

Chr 4

centrosomal protein 44

Also known as: KIAA1712, PS1TP3

NCBI Gene: 80817ENSG00000164118UniProt: Q9C0F1

Enables microtubule binding activity. Involved in centriole replication and centriole-centriole cohesion. Located in cytosol and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
68
Pathogenic / LP
119
ClinVar variants
3
Pubs (1 yr)
0.5
Missense Z
1.16
LOEUF
Clinical Summary— CEP44
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
68 Pathogenic / Likely Pathogenic· 45 VUS of 119 total submissions
Some data sources returned errors (1)

pubtator: TypeError: fetch failed

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.16LOEUF
pLI 0.000
Z-score 1.06
OE 0.73 (0.47–1.16)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.49Z-score
OE missense 0.90 (0.80–1.02)
184 obs / 203.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.73 (0.47–1.16)
0≤0.351.4
Missense OE0.90 (0.80–1.02)
0≤0.61.4
Synonymous OE0.92
0≤1.21.6
LoF obs/exp: 13 / 17.8Missense obs/exp: 184 / 203.8Syn Z: 0.55
DN
DN
0.6936th %ile
GOF
0.5759th %ile
LOF
0.3163th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

119 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic66
Likely Pathogenic2
VUS45
Likely Benign6
66
Pathogenic
2
Likely Pathogenic
45
VUS
6
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
66
0
66
Likely Pathogenic
0
0
2
0
2
VUS
0
38
7
0
45
Likely Benign
0
5
0
1
6
Benign
0
0
0
0
0
Total043751119

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

View in ClinVar →

CEP44 · 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
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
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