Gene Gene information from NCBI Gene database.
Entrez ID 6399
Gene name Trafficking protein particle complex subunit 2
Gene symbol TRAPPC2
Synonyms (NCBI Gene)
MIP2ASEDLSEDTTRAPPC2P1TRS20ZNF547LhYP38334
Chromosome X
Chromosome location Xp22.2
Summary 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-
SNPs SNP information provided by dbSNP.
14
SNP ID Visualize variation Clinical significance Consequence
rs104894948 A>G Pathogenic Coding sequence variant, missense variant
rs104894949 G>T Pathogenic Coding sequence variant, stop gained
rs122460156 G>A Pathogenic Coding sequence variant, stop gained
rs587776748 AA>- Pathogenic Stop gained, coding sequence variant
rs587776749 CA>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
928
miRTarBase ID miRNA Experiments Reference
MIRT030856 hsa-miR-21-5p Microarray 18591254
MIRT050252 hsa-miR-25-3p CLASH 23622248
MIRT049775 hsa-miR-92a-3p CLASH 23622248
MIRT049775 hsa-miR-92a-3p CLASH 23622248
MIRT690538 hsa-miR-4797-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IMP 10431248
GO:0005515 Function Protein binding IPI 21525244, 25416956, 25918224, 32296183
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 25918224
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300202 23068 ENSG00000196459
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0DI81
Protein name Trafficking protein particle complex subunit 2 (Sedlin)
Protein function Prevents transcriptional repression and induction of cell death by ENO1 (By similarity). May play a role in vesicular transport from endoplasmic reticulum to Golgi.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04628 Sedlin_N 9 136 Sedlin, N-terminal conserved region Family
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, heart, kidney, liver, lung, pancreas, placenta, skeletal muscle, fetal cartilage, fibroblasts, placenta and lymphocytes. {ECO:0000269|PubMed:10431248}.
Sequence
Sequence length 140
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    COPII-mediated vesicle transport
RAB GEFs exchange GTP for GDP on RABs
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
94
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Connective tissue disorder Likely pathogenic rs104894948 RCV002276543
Hereditary spastic paraplegia 4 Pathogenic rs587776751 RCV002286695
Spondyloepiphyseal dysplasia tarda Pathogenic; Likely pathogenic rs587777330, rs587776748, rs587776749, rs587776750, rs587776751, rs587776752, rs104894948, rs122460156, rs104894949, rs587776753, rs587776754, rs1602717698, rs1602717625, rs2046290303, rs1602708047
View all (1 more)
RCV000114971
RCV000012263
RCV000012264
RCV000012265
RCV000128610
RCV000012268
RCV000012269
RCV000012270
RCV000012271
RCV000012272
RCV000012273
RCV000850249
RCV000850250
RCV001089481
RCV000991315
RCV001293672
Spondyloepiphyseal dysplasia tarda, X-linked Pathogenic rs2518619830, rs587776752, rs2518618741 RCV002465374
RCV001807724
RCV003325299
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Spondyloepiphyseal dysplasia congenita Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs199924403, rs35590746, rs200158505, rs1057515790, rs57103709, rs1057515794, rs1057515793 RCV000307330
RCV000304571
RCV000310808
RCV000263655
RCV000294745
RCV000332587
RCV000329819
RCV000275094
RCV000386686
TRAPPC2-related disorder Conflicting classifications of pathogenicity; Benign rs2146773091, rs1291714037 RCV003401727
RCV003963698
Uterine carcinosarcoma Benign rs5979953 RCV005915498
Uterine corpus endometrial carcinoma Benign rs5979953 RCV005915499
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Developmental Disabilities Associate 29391579
Disease Associate 11760838
Growth Disorders Associate 33726005
Intellectual Disability Associate 29391579
Musculoskeletal Abnormalities Associate 29391579
Myotonia with Skeletal Abnormalities and Mental Retardation Associate 19416478
Neoplasms Inhibit 30576442
Osteochondrodysplasias Associate 11760838, 19002213, 20498720, 22563562, 31053099, 33726005
Speech Disorders Associate 29391579
Spondyloepiphyseal Dysplasia Tarda Autosomal Recessive Associate 11760838, 19416478, 20498720, 23019651, 32471379