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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.
TRAPPC12
trafficking protein particle complex subunit 12
Chromosome 2 Β· 2p25.3
NCBI Gene: 51112Ensembl: ENSG00000171853.17HGNC: HGNC:24284UniProt: A0A0J9YXQ9
38PubMed Papers
21Diseases
0Drugs
24Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endoplasmic reticulum-Golgi intermediate compartmentperinuclear region of cytoplasmprotein bindingendoplasmic reticulum to Golgi vesicle-mediated transportearly-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndromeneurodegenerative diseasegenetic disorderHydrocephalus
✦AI Summary

TRAPPC12 is a core component of the TRAPPIII protein complex that functions in two distinct cellular processes: membrane trafficking and mitosis. In the secretory pathway, TRAPPC12 localizes to ER exit sites and the ER-Golgi intermediate compartment (ERGIC), where it positively modulates COPII vesicle coat assembly by binding to Sec13/Sec31A tetramers to facilitate ER-to-Golgi transport 1. TRAPPC12 is part of the TRAPPIII complex, which exhibits GEF activity specifically toward Rab1 and Rab43 GTPases, distinguishing it from TRAPPII 2. Beyond trafficking, TRAPPC12 (also called TRAMM) has a moonlighting mitotic function: it regulates chromosome 2 and kinetochore stability by controlling CENP-E recruitment to kinetochores in a phosphorylation-dependent manner 3. Biallelic TRAPPC12 mutations cause progressive early-onset encephalopathy with brain atrophy and spasticity (PEBAS), though phenotypic severity varies 45. Patient fibroblasts display fragmented Golgi morphology and delayed ER-to-Golgi transport 5. Additionally, TRAPPC12-AS1 (an antisense RNA) expression is associated with levodopa-induced dyskinesia susceptibility in Parkinson's disease patients 6. TRAPPC12 may also influence neurodegenerative disease pathology, with associations observed in Alzheimer's neuropathological trait analysis 7.

Sources cited
1
TRAPPC12 localizes to ER exit sites and ERGIC; positively modulates COPII outer coat assembly and binds Sec13/Sec31A tetramers
PMID: 28240221
2
TRAPPIII complex containing TRAPPC12 exhibits GEF activity toward Rab1 and Rab43 with distinct specificity from TRAPPII
PMID: 34229011
3
TRAPPC12/TRAMM regulates chromosome congression, kinetochore stability, and CENP-E recruitment through phosphorylation-dependent interactions
PMID: 25918224
4
Biallelic TRAPPC12 mutations cause progressive early-onset encephalopathy with variable phenotypic severity including brain atrophy and spasticity
PMID: 32369837
5
TRAPPC12 variants result in progressive childhood encephalopathy; patient cells show fragmented Golgi and delayed ER-to-Golgi transport
PMID: 28777934
6
TRAPPC12-AS1 expression is causally associated with levodopa-induced dyskinesia susceptibility in Parkinson's disease
PMID: 40299300
7
TRAPPC12 and adjacent genes show genome-wide significant associations with Alzheimer's disease neuropathological traits
PMID: 29458411
Disease Associationsβ“˜21
early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndromeOpen Targets
0.80Strong
neurodegenerative diseaseOpen Targets
0.52Moderate
genetic disorderOpen Targets
0.50Moderate
HydrocephalusOpen Targets
0.37Weak
Severe hydrocephalusOpen Targets
0.26Weak
bronchial diseaseOpen Targets
0.25Weak
mixed connective tissue diseaseOpen Targets
0.25Weak
obesityOpen Targets
0.22Weak
laryngeal carcinomaOpen Targets
0.21Weak
nephritisOpen Targets
0.21Weak
nutritional deficiency diseaseOpen Targets
0.21Weak
myopathyOpen Targets
0.20Weak
fungal infectious diseaseOpen Targets
0.19Weak
polycystic ovary syndromeOpen Targets
0.19Weak
NephropathyOpen Targets
0.19Weak
ApneaOpen Targets
0.17Weak
thrombophiliaOpen Targets
0.17Weak
ovarian dysfunctionOpen Targets
0.17Weak
dyshidrosisOpen Targets
0.16Weak
angina pectorisOpen Targets
0.16Weak
Encephalopathy, progressive, early-onset, with brain atrophy and spasticityUniProt
Pathogenic Variants24
NM_016030.6(TRAPPC12):c.1880C>T (p.Ala627Val)Pathogenic
Progressive childhood encephalopathy|Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 627
NM_016030.6(TRAPPC12):c.145del (p.Glu49fs)Likely pathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 49
NM_016030.6(TRAPPC12):c.1966-1G>APathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
β˜…β˜†β˜†β˜†2025
NM_016030.6(TRAPPC12):c.979C>T (p.Gln327Ter)Pathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 327
NM_016030.6(TRAPPC12):c.1966-2A>GLikely pathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
β˜…β˜†β˜†β˜†2025
NM_016030.6(TRAPPC12):c.249_268del (p.Asp84fs)Likely pathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 84
NM_016030.6(TRAPPC12):c.1164+1G>TLikely pathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
β˜…β˜†β˜†β˜†2023
NM_016030.6(TRAPPC12):c.1127C>G (p.Ser376Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 376
NM_016030.6(TRAPPC12):c.1822A>T (p.Lys608Ter)Pathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 608
NM_016030.6(TRAPPC12):c.94del (p.Gln32fs)Pathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 32
NM_016030.6(TRAPPC12):c.445C>T (p.Gln149Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2023β†’ Residue 149
NM_016030.6(TRAPPC12):c.678dup (p.Phe227fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2023β†’ Residue 227
NM_016030.6(TRAPPC12):c.1530+1G>ALikely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2022
NM_016030.6(TRAPPC12):c.1677+5G>APathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome|not provided|Gastric cancer
β˜…β˜†β˜†β˜†2022
NM_016030.6(TRAPPC12):c.850C>T (p.Gln284Ter)Likely pathogenic
TRAPPC12-related disorder
β˜…β˜†β˜†β˜†2022β†’ Residue 284
NM_016030.6(TRAPPC12):c.722del (p.Gly241fs)Likely pathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
β˜…β˜†β˜†β˜†2020β†’ Residue 241
NM_016030.6(TRAPPC12):c.1965+4A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2020
NM_016030.6(TRAPPC12):c.1604-1G>TLikely pathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
β˜…β˜†β˜†β˜†2019
NM_016030.6(TRAPPC12):c.360dup (p.Glu121fs)Pathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome|Progressive childhood encephalopathy|TRAPPC12-related disorder
β˜…β˜†β˜†β˜†2017β†’ Residue 121
NM_016030.6(TRAPPC12):c.1776+16C>APathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
β˜…β˜†β˜†β˜†
View on ClinVar β†—
Related Genes
TRAPPC4Protein interaction100%TRAPPC14Protein interaction100%TRAPPC9Protein interaction100%TRAPPC10Protein interaction99%TBC1D14Protein interaction95%TRAPPC3LProtein interaction94%
Tissue Expression6 tissues
Ovary
100%
Liver
93%
Heart
86%
Lung
73%
Brain
55%
Bone Marrow
38%
Gene Interaction Network
Click a node to explore
TRAPPC12TRAPPC4TRAPPC14TRAPPC9TRAPPC10TBC1D14TRAPPC3L
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8WVT3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.19LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.94 [0.75–1.19]
RankingsWhere TRAPPC12 stands among ~20K protein-coding genes
  • #10,561of 20,598
    Most Researched38
  • #2,026of 5,498
    Most Pathogenic Variants24
  • #12,517of 17,882
    Most Constrained (LOEUF)1.19
Genes detectedTRAPPC12
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mammalian TRAPPIII Complex positively modulates the recruitment of Sec13/31 onto COPII vesicles.
PMID: 28240221
Sci Rep Β· 2017
1.00
2
Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature.
PMID: 32369837
Neuropediatrics Β· 2020
0.90
3
Integrative Approaches Identify Genetic Determinants of Levodopa Induced Dyskinesia.
PMID: 40299300
Mol Neurobiol Β· 2025
0.80
4
Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer's disease.
PMID: 29458411
Alzheimers Res Ther Β· 2018
0.70
5
Mitotic transformation of TRAMM/TrappC12.
PMID: 26257002
Oncotarget Β· 2015
0.60