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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TRAPPC2
trafficking protein particle complex subunit 2
Chromosome X Β· Xp22.2
NCBI Gene: 6399Ensembl: ENSG00000196459.16HGNC: HGNC:10710UniProt: P0DI81
67PubMed Papers
21Diseases
0Drugs
36Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingtransmembrane transporter bindingskeletal system developmentnucleusFuchs endothelial corneal dystrophycongenital hereditary endothelial dystrophy of corneasnowflake vitreoretinal degenerationcorneal endothelial dystrophy
✦AI Summary

TRAPPC2 encodes Sedlin, a critical component of the trafficking protein particle (TRAPP) complex that regulates vesicular transport from the endoplasmic reticulum to the Golgi apparatus. TRAPPC2 functions as an adaptor protein, binding to TRAPPII-specific subunit TRAPPC9 and TRAPPIII-specific subunit TRAPPC8 to facilitate formation of mammalian TRAPPII and TRAPPIII complexes 1. The protein is essential for proper export of type II collagen (COL2A1) from the endoplasmic reticulum, with TRAPPC2 deficiency leading to decreased COL2A1 expression and impaired collagen II secretion 23. Loss-of-function mutations in TRAPPC2 cause X-linked spondyloepiphyseal dysplasia tarda (SEDT), a skeletal disorder characterized by defective vertebral bodies and epiphyses of long bones, resulting in short stature and early joint degeneration 43. Disease-causing variants include missense mutations, deletions, and splice site mutations that disrupt protein function and membrane trafficking 145. TRAPPC2 knockdown in cellular models causes Golgi fragmentation, demonstrating its importance in maintaining normal Golgi dynamics and membrane trafficking processes 6.

Sources cited
1
TRAPPC2 serves as an adaptor for TRAPPII and TRAPPIII complex formation by binding to TRAPPC9 and TRAPPC8
PMID: 21858081
2
TRAPPC2 is required for type II collagen export from the endoplasmic reticulum and proper skeletal development
PMID: 37963679
3
TRAPPC2 knockdown decreases COL2A1 expression and collagen II secretion
PMID: 37693308
4
Loss-of-function TRAPPC2 variants cause X-linked spondyloepiphyseal dysplasia tarda
PMID: 31053099
5
Splice site mutations in TRAPPC2 are associated with X-linked spondyloepiphyseal dysplasia tarda
PMID: 26252088
6
TRAPPC2 knockdown leads to Golgi fragmentation and affects membrane trafficking
PMID: 19416478
Disease Associationsβ“˜21
Fuchs endothelial corneal dystrophyOpen Targets
0.05Suggestive
congenital hereditary endothelial dystrophy of corneaOpen Targets
0.05Suggestive
snowflake vitreoretinal degenerationOpen Targets
0.04Suggestive
corneal endothelial dystrophyOpen Targets
0.04Suggestive
benign neoplasm of eyeOpen Targets
0.04Suggestive
isolated congenital megalocorneaOpen Targets
0.04Suggestive
megalocorneaOpen Targets
0.04Suggestive
early-onset non-syndromic cataractOpen Targets
0.04Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.04Suggestive
keratoconus 9Open Targets
0.04Suggestive
keratoconus 1Open Targets
0.04Suggestive
Leber congenital amaurosis 8Open Targets
0.03Suggestive
macular corneal dystrophyOpen Targets
0.03Suggestive
Testicular regression syndromeOpen Targets
0.03Suggestive
keratoconus 5Open Targets
0.03Suggestive
46,XX ovotesticular disorder of sex developmentOpen Targets
0.03Suggestive
congenital stromal corneal dystrophyOpen Targets
0.03Suggestive
cornea plana 2Open Targets
0.03Suggestive
congenital primary aphakiaOpen Targets
0.03Suggestive
Leber congenital amaurosis 4Open Targets
0.03Suggestive
Spondyloepiphyseal dysplasia tardaUniProt
Pathogenic Variants36
NM_001011658.4(TRAPPC2):c.239-20_239-12delinsAATGAALikely pathogenic
Spondyloepiphyseal dysplasia tarda, X-linked
β˜…β˜…β˜†β˜†2026
NM_001011658.4(TRAPPC2):c.191_192del (p.Val64fs)Pathogenic
Spondyloepiphyseal dysplasia tarda|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 64
NM_001011658.4(TRAPPC2):c.364C>T (p.Arg122Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 122
NM_001011658.4(TRAPPC2):c.325-1G>CPathogenic
not provided
β˜…β˜…β˜†β˜†2025
NM_001011658.4(TRAPPC2):c.93+5G>APathogenic
Spondyloepiphyseal dysplasia tarda|not provided|Spondyloepiphyseal dysplasia tarda, X-linked|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025
NM_001011658.4(TRAPPC2):c.241_242del (p.Met81fs)Pathogenic
Spondyloepiphyseal dysplasia tarda|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 81
NM_001011658.4(TRAPPC2):c.271_275del (p.Gln91fs)Pathogenic
Spondyloepiphyseal dysplasia tarda|not provided|Hereditary spastic paraplegia 4
β˜…β˜…β˜†β˜†2022β†’ Residue 91
NM_001011658.4(TRAPPC2):c.325-2A>GPathogenic
not provided|Nonpapillary renal cell carcinoma
β˜…β˜†β˜†β˜†2024
NM_001011658.4(TRAPPC2):c.238+2T>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001011658.4(TRAPPC2):c.391_392del (p.Gln131fs)Likely pathogenic
Spondyloepiphyseal dysplasia tarda
β˜…β˜†β˜†β˜†2024β†’ Residue 131
NM_001011658.4(TRAPPC2):c.262_266del (p.Asp88fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 88
NM_001011658.4(TRAPPC2):c.218C>T (p.Ser73Leu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 73
NM_001011658.4(TRAPPC2):c.324+1G>APathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001011658.4(TRAPPC2):c.47_48del (p.Pro16fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 16
NM_001011658.4(TRAPPC2):c.320dup (p.Phe109fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 109
NM_001011658.4(TRAPPC2):c.137_138del (p.Leu46fs)Pathogenic
Spondyloepiphyseal dysplasia tarda, X-linked
β˜…β˜†β˜†β˜†2022β†’ Residue 46
NM_001011658.4(TRAPPC2):c.318T>A (p.Tyr106Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 106
NM_001011658.4(TRAPPC2):c.329C>G (p.Ser110Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 110
NM_001011658.4(TRAPPC2):c.382A>T (p.Arg128Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 128
NM_001011658.4(TRAPPC2):c.107del (p.His36fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 36
View on ClinVar β†—
Related Genes
RAB1AProtein interaction100%SEC24BProtein interaction100%TRAPPC14Protein interaction100%SEC22BProtein interaction100%SCFD1Protein interaction100%TRAPPC10Protein interaction99%
Tissue Expression6 tissues
Brain
100%
Heart
95%
Bone Marrow
70%
Ovary
67%
Lung
59%
Liver
45%
Gene Interaction Network
Click a node to explore
TRAPPC2RAB1ASEC24BTRAPPC14SEC22BSCFD1TRAPPC10
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P0DI81
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.25LoF Tolerant
pLIβ“˜
0.06Tolerant
Observed/Expected LoF0.59 [0.31–1.25]
RankingsWhere TRAPPC2 stands among ~20K protein-coding genes
  • #7,025of 20,598
    Most Researched67
  • #1,653of 5,498
    Most Pathogenic Variants36
  • #13,161of 17,882
    Most Constrained (LOEUF)1.25
Genes detectedTRAPPC2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability.
PMID: 21858081
PLoS One Β· 2011
1.00
2
Role of trafficking protein particle complex 2 in medaka development.
PMID: 37963679
Traffic Β· 2024
0.90
3
Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases.
PMID: 31053099
BMC Med Genet Β· 2019
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
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
PMID: 24188901
Gene Β· 2014
0.60