HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TRAPPC2L
trafficking protein particle complex subunit 2L
Chromosome 16 Β· 16q24.3
NCBI Gene: 51693Ensembl: ENSG00000167515.11HGNC: HGNC:30887UniProt: A0A0B4J294
39PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytosolprotein bindingTRAPP complexcytoplasmmucopolysaccharidosis type 4Aencephalopathy, progressive, early-onset, with episodic rhabdomyolysismucopolysaccharidosis type 4neurodegenerative disease
✦AI Summary

TRAPPC2L is a core subunit of the TRAPP (trafficking protein particle) complexes, multisubunit tethering factors conserved across eukaryotes 1. The protein functions as a stable mammalian TRAPP component involved in early-stage endoplasmic reticulum-to-Golgi vesicle transport 1. TRAPPC2L interacts with other TRAPP subunits, including TRAPPC6a, where it acts as a putative adaptor for complex assembly and membrane trafficking 2. Functionally, TRAPPC2L regulates intracellular vesicle trafficking and autophagy processes essential for cellular secretion 3. Pathogenic variants in TRAPPC2L cause a rare autosomal recessive disorder characterized by early-onset progressive encephalopathy with episodic rhabdomyolysis 4. The disease presents as severe neurodevelopmental disorder with variable muscle involvement, classified among congenital muscular dystrophies 4. Clinical features include developmental delay, seizures, postnatal microcephaly, and hyperCKaemia 4. Pathogenic missense and protein-truncating variants disrupt TRAPPC2L protein function, impair TRAPP complex assembly, and cause membrane trafficking delays with Golgi morphology alterations 25. Additionally, TRAPPC2L dysregulation has been identified as a transcriptional driver of metastatic heterogeneity in prostate cancer progression 6.

Sources cited
1
TRAPPC2L is a stable component of mammalian TRAPP complexes with role in ER-to-Golgi trafficking
PMID: 21525244
2
TRAPPC2L interacts with TRAPPC6a as a putative adaptor and affects TRAPP complex assembly
PMID: 32843486
3
TRAPPC2L variants cause early-onset progressive encephalopathy with rhabdomyolysis, classified as congenital muscular dystrophy
PMID: 36849228
4
TRAPPC2L p.Asp37Tyr variant disrupts TRAPP function, causes membrane trafficking delays, and affects RAB11 activation
PMID: 30120216
5
TRAPPC2L functions in membrane trafficking and autophagy; variants cause neurodevelopmental disorders and myopathy
PMID: 39273027
6
TRAPPC2L acts as core transcriptional regulator driving metastatic heterogeneity in prostate cancer progression
PMID: 40345286
Disease Associationsβ“˜21
mucopolysaccharidosis type 4AOpen Targets
0.56Moderate
encephalopathy, progressive, early-onset, with episodic rhabdomyolysisOpen Targets
0.53Moderate
mucopolysaccharidosis type 4Open Targets
0.41Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
genetic disorderOpen Targets
0.16Weak
Intellectual disabilityOpen Targets
0.12Weak
sweat gland diseaseOpen Targets
0.11Weak
hemoglobin D diseaseOpen Targets
0.04Suggestive
beta thalassemiaOpen Targets
0.04Suggestive
Beta-thalassemiaOpen Targets
0.04Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.03Suggestive
hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeOpen Targets
0.03Suggestive
hemoglobin E diseaseOpen Targets
0.03Suggestive
severe congenital hypochromic anemia with ringed sideroblastsOpen Targets
0.03Suggestive
dominant beta-thalassemiaOpen Targets
0.03Suggestive
beta-thalassemia intermediaOpen Targets
0.03Suggestive
congenital dyserythropoietic anemia type 4Open Targets
0.03Suggestive
Congenital dyserythropoietic anemia type IVOpen Targets
0.03Suggestive
VertigoOpen Targets
0.03Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.03Suggestive
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysisUniProt
Pathogenic Variants5
NM_001318525.2(TRAPPC2L):c.164A>T (p.Glu55Val)Likely pathogenic
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
β˜…β˜†β˜†β˜†2023β†’ Residue 55
NM_001318525.2(TRAPPC2L):c.33+2T>GLikely pathogenic
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis|Colon adenocarcinoma
β˜…β˜†β˜†β˜†2021
NC_000016.10:g.89282397dupPathogenic
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
β˜…β˜†β˜†β˜†2019
NC_000016.10:g.89282939dupPathogenic
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
β˜…β˜†β˜†β˜†2019
NM_001318525.2(TRAPPC2L):c.109G>T (p.Asp37Tyr)Pathogenic
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
β˜†β˜†β˜†β˜†2019β†’ Residue 37
View on ClinVar β†—
Related Genes
RAB1AProtein interaction100%TBC1D14Protein interaction95%TRAPPC3LProtein interaction94%TRAPPC1Protein interaction92%TRAPPC5Protein interaction92%TRAPPC2BProtein interaction92%
Tissue Expression6 tissues
Heart
100%
Ovary
92%
Bone Marrow
79%
Liver
79%
Brain
72%
Lung
64%
Gene Interaction Network
Click a node to explore
TRAPPC2LRAB1ATBC1D14TRAPPC3LTRAPPC1TRAPPC5TRAPPC2B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9UL33
View on AlphaFold β†—
RankingsWhere TRAPPC2L stands among ~20K protein-coding genes
  • #10,409of 20,598
    Most Researched39
  • #3,601of 5,498
    Most Pathogenic Variants5
Genes detectedTRAPPC2L
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Proteomic hub proteins CDKN2B, TRAPPC2L, WFS1, and ARPP19 drive biochemical recurrence and metastatic progression in prostate cancer: Protein macromolecule action.
PMID: 40345286
Int J Biol Macromol Β· 2025
1.00
2
KBG syndrome: report and follow-up on three unrelated patients observed at different ages.
PMID: 39985057
Ital J Pediatr Β· 2025
0.90
3
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype.
PMID: 36849228
J Med Genet Β· 2023
0.80
4
A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a
PMID: 39273027
Cells Β· 2024
0.70
5
C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking.
PMID: 21525244
Mol Biol Cell Β· 2011
0.60