TRAPPC2
Trafficking protein particle complex subunit 2
Also known as: hYP38334, MIP-2A, SEDL, SEDT, TPC2A_HUMAN, TRS20, ZNF547L
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P0DI81
- Gene
- TRAPPC2
- Ensembl
- ENSG00000196459
- Chromosome
- X
- Canonical length
- 140 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Endoplasmic reticulum,Vesicles
- Quaternary structure
- Homodimer
OverviewNCBI Gene
The protein encoded by this gene is thought to be part of a large multi-subunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind c-myc promoter-binding protein 1 and block its transcriptional repression capability. Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene of this gene is located on chromosome 19, and other pseudogenes are found on chromosomes 8 and Y. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]
Canonical amino-acid sequenceUniProt
140 residues, UniProt reviewed canonical sequence.
>P0DI81|TRAPPC2
1 MSGSFYFVIV GHHDNPVFEM EFLPAGKAES KDDHRHLNQF IAHAALDLVD ENMWLSNNMY
61 LKTVDKFNEW FVSAFVTAGH MRFIMLHDIR QEDGIKNFFT DVYDLYIKFS MNPFYEPNSP
121 IRSSAFDRKV QFLGKKHLLSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TRAPPC2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 17 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 17 nTPM
- cerebral cortex: 11 nTPM
- hypothalamus: 11 nTPM
- basal ganglia: 11 nTPM
- lymph node: 11 nTPM
- hippocampal formation: 11 nTPM
Single-cell type
- platelets: 133 nCPM
- cardiomyocytes: 68 nCPM
- nk-cells: 63 nCPM
- esophageal apical cells: 58 nCPM
- parietal cells: 51 nCPM
- epicardial cells: 48 nCPM
Immune cell
- NK-cell: 22 nTPM
- basophil: 19 nTPM
- gdT-cell: 17 nTPM
- MAIT T-cell: 17 nTPM
- T-reg: 16 nTPM
- memory CD8 T-cell: 16 nTPM
Brain region
- hypothalamus: 27 nTPM
- cerebral cortex: 24 nTPM
- hippocampal formation: 23 nTPM
- basal ganglia: 23 nTPM
- cerebellum: 22 nTPM
- amygdala: 21 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TRAPPC2.
Disease | AllUniProt
Conditions TRAPPC2 is implicated in, by any mechanism.
- Spondyloepiphyseal dysplasia tarda (SEDT) MIM:313400
Disease | GeneticClinVar
36 pathogenic / likely-pathogenic of 173 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spondyloepiphyseal dysplasia tarda
- Spondyloepiphyseal dysplasia tarda, X-linked
- Hereditary spastic paraplegia 4
- Inborn genetic diseases
- Connective tissue disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.75
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.53
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- COPII vesicle coating
- endoplasmic reticulum to Golgi vesicle-mediated transport
- skeletal system development
- vesicle coating
- vesicle tethering
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TRAPPC2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TRAPPC2 as an antibody target. Whether an autoantibody or antibody against TRAPPC2 could matter depends on whether native TRAPPC2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TRAPPC2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TRAPPC2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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