Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6399
Gene name Gene Name - the full gene name approved by the HGNC.
Trafficking protein particle complex subunit 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TRAPPC2
Synonyms (NCBI Gene) Gene synonyms aliases
MIP2A, SEDL, SEDT, TRAPPC2P1, TRS20, ZNF547L, hYP38334
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SEDT
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp22.2
Summary Summary of gene provided in NCBI Entrez 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-
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0001501 Process Skeletal system development IMP 10431248
GO:0005515 Function Protein binding IPI 11134351, 21525244, 25416956, 25918224
GO:0005634 Component Nucleus IBA 21873635
GO:0005634 Component Nucleus IDA 25918224
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300202 23068 ENSG00000196459
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Melnick-needles syndrome Melnick-Needles Syndrome rs28935472, rs28935473
Multiple epiphyseal dysplasia Multiple Epiphyseal Dysplasia rs786200881, rs104893915, rs104893919, rs104893916, rs386833492, rs104893924, rs104893645, rs104893637, rs28939677, rs104893641, rs137852654, rs193922900, rs137852655, rs869320730, rs28936368
View all (58 more)
Osteochondrodysplasia Osteochondrodysplasias rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Schwartz-jampel syndrome Schwartz-Jampel Syndrome rs886039909, rs927473035, rs1572304438, rs1572356343
Associations from Text Mining
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