TRAPPC2 Chromosome X
Trafficking protein particle complex subunit 2
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What This Gene Does
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]
Gene Info
Gene Group
Trafficking protein particle complex subunits
Locus Type
gene with protein product
Location
Xp22.2
Ensembl
ENSG00000196459
Associated Conditions (6)
Spondyloepiphyseal dysplasia tarda
X-linked
TRAPPC2-related disorder
Connective tissue disorder
Hereditary spastic paraplegia 4
Inborn genetic diseases
Key Variants
RS2146773091
Conflicting classifications of pathogenicity
Spondyloepiphyseal dysplasia tarda, X-linked, TRAPPC2-related disorder
Health Risk
RS377210137
Conflicting classifications of pathogenicity
Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda
Health Risk
RS746032983
Conflicting classifications of pathogenicity
Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda
Health Risk
RS104894948
Likely pathogenic
Spondyloepiphyseal dysplasia tarda, Connective tissue disorder, Spondyloepiphyseal dysplasia tarda
Health Risk
RS2146765756
Likely pathogenic
Health Risk
RS2146775487
Likely pathogenic
Health Risk
RS2146776296
Likely pathogenic
Health Risk
RS104894949
Pathogenic
Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda
Health Risk
RS122460156
Pathogenic
Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda
Health Risk
RS1602708047
Pathogenic
Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda
Health Risk
RS1602717625
Pathogenic
Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda
Health Risk
RS1602717698
Pathogenic
Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2146773091 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepiphyseal dysplasia tarda, X-linked, TRAPPC2-related disorder |
| RS377210137 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda |
| RS746032983 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda |
| RS104894948 | Health Risk | Likely pathogenic | Spondyloepiphyseal dysplasia tarda, Connective tissue disorder, Spondyloepiphyseal dysplasia tarda |
| RS2146765756 | Health Risk | Likely pathogenic | — |
| RS2146775487 | Health Risk | Likely pathogenic | — |
| RS2146776296 | Health Risk | Likely pathogenic | — |
| RS104894949 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda |
| RS122460156 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda |
| RS1602708047 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda |
| RS1602717625 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda |
| RS1602717698 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda |
| RS2046258303 | Health Risk | Pathogenic | — |
| RS2046279070 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda |
| RS2046281324 | Health Risk | Pathogenic | — |
| RS2046290303 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda |
| RS2518613150 | Health Risk | Pathogenic | — |
| RS2518613178 | Health Risk | Pathogenic | — |
| RS2518618741 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia tarda, X-linked, Spondyloepiphyseal dysplasia tarda |
| RS2518619830 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia tarda, X-linked, Spondyloepiphyseal dysplasia tarda |
| RS2518644198 | Health Risk | Pathogenic | — |
| RS587776748 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda |
| RS587776749 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda |
| RS587776750 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda |
| RS587776751 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia tarda, Hereditary spastic paraplegia 4, Spondyloepiphyseal dysplasia tarda |
| RS587776752 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia tarda, X-linked, Inborn genetic diseases |
| RS587776753 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda |
| RS587776754 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda |
| RS587777330 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda |
| RS1312555296 | Health Risk | Pathogenic/Likely pathogenic | — |