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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CEP19
centrosomal protein 19
Chromosome 3 Β· 3q29
NCBI Gene: 84984Ensembl: ENSG00000174007.10HGNC: HGNC:28209UniProt: A8MX07
22PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmicrotubule anchoring at centrosomecilium assemblyvesicle targeting, trans-Golgi to periciliary membrane compartmentmorbid obesityobesity due to CEP19 deficiencyBardet-Biedl syndromeoptic atrophy
✦AI Summary

CEP19 is a centrosomal and ciliary protein essential for cilia assembly and intraflagellar transport (IFT). Mechanistically, CEP19 recruits the activated GTP-bound RABL2 GTPase to the ciliary base, and the CEP19-RABL2 complex subsequently captures IFT complex B to trigger its entry into developing cilia 12. CEP19 also cooperates with FOP and CEP350 to recruit ciliary vesicles to the mother centriole's distal end, initiating cilium assembly 3. Additionally, CEP19 participates in microtubule anchoring at centrosomes and controls BBSome-mediated ciliary GPCR export through its role in the CEP19-RABL2-IFT-B axis 4. CEP19 mutations cause early-onset severe obesity and metabolic syndrome; homozygous null variants produce morbidly obese, hyperphagic, and insulin-resistant mice 5. Clinical presentations include severe obesity with diabetic ketoacidosis, metabolic syndrome, and variable ciliopathy features such as situs inversus abdominalis and polysplenia 6. These findings establish CEP19 as a critical ciliary protein whose dysfunction impairs ciliogenesis and metabolic regulation, implicating defective cilia assembly in monogenic obesity and ciliopathy phenotypes.

Sources cited
1
CEP19 recruits RABL2 GTPase to ciliary base and interacts with IFT-B complex to trigger ciliary assembly
PMID: 28428259
2
CEP19 cooperates with FOP and CEP350 to recruit ciliary vesicles and enable ciliogenesis; C-terminus mediates these interactions
PMID: 28659385
3
CEP19-RABL2-IFT-B axis controls BBSome-mediated ciliary GPCR export
PMID: 36074075
4
Homozygous CEP19 mutations cause autosomal-recessive morbid obesity; knockout mice are obese, hyperphagic, glucose intolerant, and insulin resistant
PMID: 24268657
5
Novel homozygous CEP19 nonsense variant causes early-onset severe obesity, metabolic syndrome, diabetic ketoacidosis, and ciliopathy features including situs inversus
PMID: 38585545
Disease Associationsβ“˜21
morbid obesityOpen Targets
0.50Moderate
obesity due to CEP19 deficiencyOpen Targets
0.50Moderate
Bardet-Biedl syndromeOpen Targets
0.45Moderate
optic atrophyOpen Targets
0.11Weak
allergic diseaseOpen Targets
0.10Suggestive
obesity due to melanocortin 4 receptor deficiencyOpen Targets
0.07Suggestive
MODYOpen Targets
0.07Suggestive
hypoinsulinemic hypoglycemia and body hemihypertrophyOpen Targets
0.05Suggestive
LIPE-related familial partial lipodystrophyOpen Targets
0.04Suggestive
metabolic syndromeOpen Targets
0.04Suggestive
type 2 diabetes mellitusOpen Targets
0.04Suggestive
diabetes mellitusOpen Targets
0.04Suggestive
short stature due to primary acid-labile subunit deficiencyOpen Targets
0.04Suggestive
PLIN1-related familial partial lipodystrophyOpen Targets
0.04Suggestive
lipodystrophy, congenital generalized, type 5Open Targets
0.04Suggestive
coronary artery diseaseOpen Targets
0.04Suggestive
coronary artery disease, autosomal dominant 2Open Targets
0.04Suggestive
transient neonatal diabetes mellitusOpen Targets
0.04Suggestive
diabetes mellitus, permanent neonatal 4Open Targets
0.04Suggestive
intracranial hemorrhageOpen Targets
0.04Suggestive
Morbid obesity and spermatogenic failureUniProt
Pathogenic Variants1
NM_032898.5(CEP19):c.182dup (p.Tyr61Ter)Pathogenic
Bardet-Biedl syndrome
β˜†β˜†β˜†β˜†2017β†’ Residue 61
View on ClinVar β†—
Related Genes
CEP43Protein interaction95%RABL2BProtein interaction95%RABL2AProtein interaction95%CEP350Protein interaction74%NINLShared pathway50%CIBAR2Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Ovary
33%
Lung
32%
Heart
26%
Bone Marrow
25%
Liver
16%
Gene Interaction Network
Click a node to explore
CEP19CEP43RABL2BRABL2ACEP350NINLCIBAR2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96LK0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.21LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.77 [0.51–1.21]
RankingsWhere CEP19 stands among ~20K protein-coding genes
  • #13,617of 20,598
    Most Researched22
  • #5,347of 5,498
    Most Pathogenic Variants1
  • #12,700of 17,882
    Most Constrained (LOEUF)1.21
Genes detectedCEP19
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant in
PMID: 38585545
Mol Syndromol Β· 2024
1.00
2
Gating Ciliary Transport.
PMID: 28697332
Dev Cell Β· 2017
0.90
3
Architecture of RabL2-associated complexes at the ciliary base: A structural modeling perspective: Deciphering the structural organization of ciliary RabL2 complexes.
PMID: 38991980
Bioessays Β· 2024
0.80
4
The IFT81-IFT74 complex acts as an unconventional RabL2 GTPase-activating protein during intraflagellar transport.
PMID: 37606072
EMBO J Β· 2023
0.70
5
RABL2 interacts with the intraflagellar transport-B complex and CEP19 and participates in ciliary assembly.
PMID: 28428259
Mol Biol Cell Β· 2017
0.60