CEP19

Chr 3q29

centrosomal protein 19

Aliases:: MGC14126
MANE:: ENST00000409690.5

OMIM: 615586 ↗NCBI: 84984 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CEP19 · Q96LK0

v62025-08-01

Predicted Aligned Error matrix for CEP19 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.8/ 100

Confident

163 residues

Confidence breakdown

Very high(≥ 90)32%
Confident(70–90)56%
Low(50–70)12%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Severe early-onset obesity
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders

Disease associations (Open Targets)

obesity due to CEP19 deficiency
0.50
Bardet-Biedl syndrome
0.45
morbid obesity
0.37
optic atrophy
0.11
obesity due to melanocortin 4 receptor deficiency
0.08
allergic disease
0.07
MODY
0.07
coronary artery disease, autosomal dominant 2
0.05
familial multiple lipomatosis
0.05
hypoinsulinemic hypoglycemia and body hemihypertrophy
0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Centrosomal protein of 19 kDa

Required for ciliation (PubMed:28428259, PubMed:28625565, PubMed:28659385). Recruits the RABL2B GTPase to the ciliary base to initiate ciliation. After specifically capturing the activated GTP-bound RABL2B, the CEP19-RABL2B complex binds intraflagellar transport (IFT) complex B from the large pool pre-docked at the base of the cilium and thus triggers its entry into the cilia (PubMed:28428259, PubMed:28625565). Involved in the early steps in cilia formation by recruiting the ciliary vesicles (CVs) to the distal end of the mother centriole where they fuse to initiate cilium assembly. Involved in microtubule (MT) anchoring to the centrosomes (PubMed:28659385)