CEP41

Chr 7AR

centrosomal protein 41

Also known as: JBTS15, TSGA14

NCBI Gene: 95681 ENSG00000106477 UniProt: Q9BYV8 OMIM: 610523

The protein is required for ciliogenesis and facilitates tubulin glutamylation in cilia by participating in the transport of TTLL6 tubulin polyglutamylase between the basal body and cilium. Mutations cause Joubert syndrome 15, an autosomal recessive ciliopathy characterized by neurological abnormalities. This gene shows high constraint against loss-of-function variants, indicating its critical role in normal development.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Joubert syndrome 15MIM #614464

Clinical highlights

Gene–disease validity (ClinGen)

Definitive · ciliopathy · AR · ClinGen 2025

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.92

LOEUF

LOF

Mechanism· G2P

📖

GeneReview available — CEP41

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.92LOEUF

pLI 0.000

Z-score 1.83

OE 0.57 (0.36–0.92)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.35Z-score

OE missense 0.93 (0.83–1.05)

188 obs / 201.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.57 (0.36–0.92)

0≤0.351.4

Missense OE?0.93 (0.83–1.05)

0≤0.61.4

Synonymous OE?0.95

0≤1.21.6

LoF obs/exp: 12 / 21.1Missense obs/exp: 188 / 201.9Syn Z: 0.33

Background carrier burden — how many people carry a rare variant somewhere in CEP41?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 46

736 rare PASS variants

Rare truncating (LoF)

1 in 110

224 rare PASS variants

Rare synonymous (reference)

1 in 140

269 rare PASS variants

Rare missense and truncating variants are carried at similar rates in CEP41; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 58	1 in 120
South Asian	~43k	1 in 56	1 in 120
Remaining (unassigned)	~30k	1 in 49	1 in 110
European (Finnish)	~27k	1 in 86	1 in 100
Admixed American	~22k	1 in 46	1 in 140
African / African American	~21k	1 in 45	1 in 120
East Asian	~20k	1 in 41	1 in 81
Ashkenazi Jewish	~13k	1 in 93	1 in 210
Middle Eastern	~2,884	1 in 61	1 in 130

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 7 of 11 coding exons well covered in gnomAD exomes; exons 2, 3, 4, 8 marginal. Genomes: all 11.? see exons ↓