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.
TRAPPC10
trafficking protein particle complex subunit 10
Chromosome 21 Β· 21q22.3
NCBI Gene: 7109Ensembl: ENSG00000160218.14HGNC: HGNC:11868UniProt: P48553
47PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
intra-Golgi vesicle-mediated transportTRAPP complexprotein bindingTRAPPII protein complexneurodevelopmental disorder with microcephaly, short stature, and speech delayneurodegenerative diseaseautosomal recessive primary microcephalyIntellectual disability
✦AI Summary

TRAPPC10 is a specific subunit of the TRAPP (transport protein particle) II complex that functions in intracellular vesicle trafficking and membrane tethering 1. The protein contains a Longin domain that may contribute to the Rab11-GEF activity ascribed to TRAPP-II 2. TRAPPC10 interacts with TRAPPC9, another key TRAPP II component, and this interaction is essential for complex stability - studies show that TRAPPC10 deficiency leads to concomitant reduction of TRAPPC9 levels 1. Loss of TRAPPC10 function causes membrane trafficking defects that can be rescued by wild-type but not mutant constructs 1. Biallelic loss-of-function variants in TRAPPC10 cause a severe microcephalic neurodevelopmental disorder characterized by developmental delay, intellectual disability, microcephaly, and behavioral abnormalities including autistic traits 31. The mechanism involves premature protein termination leading to nonsense-mediated decay and loss of functional TRAPPC10 protein 3. Knockout mouse models recapitulate the human phenotype, showing neuroanatomical brain defects and microcephaly similar to findings in TRAPPC9 knockout mice 1. These findings establish TRAPPC10 as critical for normal brain development and highlight the importance of TRAPP II complex function in neurodevelopmental processes.

Sources cited
1
Novel TRAPPC10 variant causes severe developmental delay, microcephaly, and behavioral abnormalities through premature protein termination
PMID: 39560797
2
TRAPPC10 is a TRAPP II complex component that interacts with TRAPPC9; biallelic variants cause microcephalic neurodevelopmental disorder
PMID: 35298461
3
TRAPPC10 contains a Longin domain that may contribute to Rab11-GEF activity of TRAPP-II complex
PMID: 23511850
4
TRAPPC10 identified as candidate gene for autosomal recessive intellectual disability in consanguineous families
PMID: 30167849
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
neurodevelopmental disorder with microcephaly, short stature, and speech delayOpen Targets
0.56Moderate
neurodegenerative diseaseOpen Targets
0.44Moderate
autosomal recessive primary microcephalyOpen Targets
0.37Weak
Intellectual disabilityOpen Targets
0.26Weak
ocular hypotensionOpen Targets
0.15Weak
Crohn's diseaseOpen Targets
0.13Weak
generalised epilepsyOpen Targets
0.12Weak
inherited retinal dystrophyOpen Targets
0.06Suggestive
atrioventricular septal defect 5Open Targets
0.05Suggestive
isolated Pierre-Robin syndromeOpen Targets
0.05Suggestive
ventricular septal defect 1Open Targets
0.05Suggestive
dysraphism-cleft lip/palate-limb reduction defects syndromeOpen Targets
0.05Suggestive
Medeira-Dennis-Donnai syndromeOpen Targets
0.05Suggestive
MMEP syndromeOpen Targets
0.04Suggestive
congenital heart defects, multiple types, 4Open Targets
0.04Suggestive
congenital heart diseaseOpen Targets
0.04Suggestive
cleft palateOpen Targets
0.04Suggestive
microphthalmia, syndromic 12Open Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
Meckel syndrome, type 4Open Targets
0.04Suggestive
Neurodevelopmental disorder with microcephaly, short stature, and speech delayUniProt
Pathogenic Variants6
NM_003274.5(TRAPPC10):c.1300+1G>ALikely pathogenic
Neurodevelopmental disorder with microcephaly, short stature, and speech delay
β˜…β˜†β˜†β˜†2024
NM_003274.5(TRAPPC10):c.1512_1513insAA (p.Ala505fs)Likely pathogenic
Neurodevelopmental disorder with microcephaly, short stature, and speech delay
β˜…β˜†β˜†β˜†2023β†’ Residue 505
NM_003274.5(TRAPPC10):c.940C>T (p.Gln314Ter)Likely pathogenic
Neurodevelopmental disorder with microcephaly, short stature, and speech delay
β˜…β˜†β˜†β˜†2023β†’ Residue 314
NM_003274.5(TRAPPC10):c.2786C>T (p.Pro929Leu)Pathogenic
Intellectual disability|Neurodevelopmental disorder with microcephaly, short stature, and speech delay
β˜†β˜†β˜†β˜†2022β†’ Residue 929
NM_003274.5(TRAPPC10):c.3392del (p.Gly1131fs)Pathogenic
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, SPEECH DELAY, AND BEHAVIORAL ABNORMALITIES
β˜†β˜†β˜†β˜†2022β†’ Residue 1131
NM_003274.5(TRAPPC10):c.3222C>A (p.Cys1074Ter)Likely pathogenic
TRAPPopathy microcephalic
β˜†β˜†β˜†β˜†2021β†’ Residue 1074
View on ClinVar β†—
Related Genes
TRAPPC4Protein interaction100%RAB1AProtein interaction99%TRAPPC2Protein interaction99%TRAPPC12Protein interaction99%TRAPPC11Protein interaction97%PWP2Protein interaction94%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
27%
Lung
24%
Heart
21%
Liver
17%
Ovary
15%
Gene Interaction Network
Click a node to explore
TRAPPC10TRAPPC4RAB1ATRAPPC2TRAPPC12TRAPPC11PWP2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P48553
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.27Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.19 [0.14–0.27]
RankingsWhere TRAPPC10 stands among ~20K protein-coding genes
  • #9,282of 20,598
    Most Researched47
  • #3,403of 5,498
    Most Pathogenic Variants6
  • #937of 17,882
    Most Constrained (LOEUF)0.27 Β· top 10%
Genes detectedTRAPPC10
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Introducing a novel TRAPPC10 gene variant as a potential cause of developmental delay and intellectual disability in an Iranian family.
PMID: 39560797
Neurogenetics Β· 2024
1.00
2
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.
PMID: 35298461
PLoS Genet Β· 2022
0.90
3
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
PMID: 37713627
Brain Β· 2024
0.80
4
Discovery of new Longin and Roadblock domains that form platforms for small GTPases in Ragulator and TRAPP-II.
PMID: 23511850
Small GTPases Β· 2013
0.70
5
Biochemical Insight into Novel Rab-GEF Activity of the Mammalian TRAPPIII Complex.
PMID: 34229011
J Mol Biol Β· 2021
0.60