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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.
TRAPPC4
trafficking protein particle complex subunit 4
Chromosome 11 Β· 11q23.3
NCBI Gene: 51399Ensembl: ENSG00000196655.12HGNC: HGNC:19943UniProt: B4DF86
48PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingendoplasmic reticulum to Golgi vesicle-mediated transportautophagyTRAPP complexneurodevelopmental disorder with epilepsy, spasticity, and brain atrophyGlycogen storage disease due to glucose-6-phosphatase deficiencyGlycogen storage disease due to glucose-6-phosphatase deficiency type bcongenital disorder of glycosylation, type IIw
✦AI Summary

TRAPPC4 is a core component of the TRAPP complexes that functions as a guanine nucleotide exchange factor for Rab1 GTPase 1. Primary functions include mediating vesicular transport from the endoplasmic reticulum to the Golgi apparatus and regulating autophagy 1. Beyond canonical trafficking roles, TRAPPC4 regulates PD-L1 recycling by scaffolding interactions between PD-L1 and RAB11 in recycling endosomes, promoting tumor cell surface expression of this immunosuppressive ligand 2. TRAPPC4 also interacts with kalirin at recycling endosomes as part of a dual GEF complex coordinating Rab11 and Rac1 signaling 3. In colorectal cancer, TRAPPC4 interacts with ERK2 to promote its activation and nuclear translocation, enhancing cell proliferation 45. Clinically, biallelic loss-of-function variants in TRAPPC4 cause a neurodevelopmental disorder characterized by early-infantile onset, developmental regression, refractory seizures, progressive spasticity, microcephaly, and brain atrophy 678. The recurrent c.454+3A>G splice variant results in exon skipping, nonsense-mediated decay, and protein deficiency 6. TRAPPC4 represents a potential therapeutic target for enhancing anti-tumor immunity through PD-L1 modulation 2.

Sources cited
1
TRAPPC4 is a core TRAPP complex component with GEF activity for Rab1, regulating ER-to-Golgi transport and autophagy
PMID: 31794024
2
TRAPPC4 scaffolds PD-L1 and RAB11 interaction in recycling endosomes to promote PD-L1 surface expression
PMID: 34518538
3
TRAPPC4 interacts with kalirin to form a dual GEF complex regulating Rab11 and Rac1 at recycling endosomes
PMID: 32375403
4
TRAPPC4 interacts with ERK2 to promote ERK1/2 activation and nuclear translocation in colorectal cancer
PMID: 21826244
5
TRAPPC4-ERK2 interaction regulates cell cycle progression and colorectal cancer cell proliferation
PMID: 23625650
6
Homozygous TRAPPC4 c.454+3A>G variant causes early-infantile neurodegenerative syndrome with seizures, spasticity, and brain atrophy
PMID: 32901138
7
TRAPPC4 splice site variants cause reduced protein levels and neurodevelopmental disorder with seizures and intellectual disability
PMID: 39787667
8
TRAPPC4-related neurodevelopmental disorder presents with developmental delay, seizures, spasticity, microcephaly, and muscle involvement
PMID: 34878169
Disease Associationsβ“˜21
neurodevelopmental disorder with epilepsy, spasticity, and brain atrophyOpen Targets
0.70Strong
Glycogen storage disease due to glucose-6-phosphatase deficiencyOpen Targets
0.57Moderate
Glycogen storage disease due to glucose-6-phosphatase deficiency type bOpen Targets
0.57Moderate
congenital disorder of glycosylation, type IIwOpen Targets
0.53Moderate
glycogen storage disease IOpen Targets
0.46Moderate
disorder of glycogen metabolismOpen Targets
0.45Moderate
genetic disorderOpen Targets
0.41Moderate
complex neurodevelopmental disorderOpen Targets
0.37Weak
neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomaliesOpen Targets
0.34Weak
congenital disorder of glycosylationOpen Targets
0.26Weak
glycogen storage disease type 1 due to SLC37A4 mutationOpen Targets
0.12Weak
neoplasmOpen Targets
0.08Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
intellectual developmental disorder, X-linked 110Open Targets
0.04Suggestive
atopic eczemaOpen Targets
0.03Suggestive
colorectal cancerOpen Targets
0.03Suggestive
gastric cancerOpen Targets
0.03Suggestive
asthmaOpen Targets
0.03Suggestive
colorectal carcinomaOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophyUniProt
Pathogenic Variants4
NM_016146.6(TRAPPC4):c.454+3A>GPathogenic
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy|Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies|not provided
β˜…β˜…β˜†β˜†2025
NM_016146.6(TRAPPC4):c.23_24del (p.Val8fs)Likely pathogenic
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
β˜…β˜†β˜†β˜†2024β†’ Residue 8
NM_016146.6(TRAPPC4):c.374T>C (p.Leu125Pro)Likely pathogenic
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
β˜…β˜†β˜†β˜†β†’ Residue 125
NM_016146.6(TRAPPC4):c.638_*4del (p.Gly213_Ter220delinsXaa)Likely pathogenic
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
β˜†β˜†β˜†β˜†2020β†’ Residue 213
View on ClinVar β†—
Related Genes
RAB1AProtein interaction100%TRAPPC10Protein interaction100%TRAPPC8Protein interaction100%TRAPPC12Protein interaction100%SDC1Protein interaction98%SDC2Protein interaction97%
Tissue Expression6 tissues
Lung
100%
Liver
95%
Bone Marrow
94%
Brain
92%
Ovary
92%
Heart
89%
Gene Interaction Network
Click a node to explore
TRAPPC4RAB1ATRAPPC10TRAPPC8TRAPPC12SDC1SDC2
PROTEIN STRUCTURE
Preparing viewer…
PDB2J3T Β· 2.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.69LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.23 [0.91–1.69]
RankingsWhere TRAPPC4 stands among ~20K protein-coding genes
  • #9,150of 20,598
    Most Researched48
  • #3,799of 5,498
    Most Pathogenic Variants4
  • #16,065of 17,882
    Most Constrained (LOEUF)1.69
Genes detectedTRAPPC4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
TRAPPC4 regulates the intracellular trafficking of PD-L1 and antitumor immunity.
PMID: 34518538
Nat Commun Β· 2021
1.00
2
Generation and heterozygous repair of human iPSC lines from two individuals with the neurodevelopmental disorder, TRAPPC4 deficiency.
PMID: 39787667
Stem Cell Res Β· 2025
0.90
3
Synbindin restrains proinflammatory macrophage activation against microbiota and mucosal inflammation during colitis.
PMID: 33441378
Gut Β· 2021
0.80
4
Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy.
PMID: 34878169
Ann Hum Genet Β· 2022
0.70
5
Kalirin Interacts with TRAPP and Regulates Rab11 and Endosomal Recycling.
PMID: 32375403
Cells Β· 2020
0.60