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TRAPPC2 (trafficking protein particle complex subunit 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6399
Gene nameGene Name - the full gene name approved by the HGNC.
Trafficking protein particle complex subunit 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TRAPPC2
SynonymsGene synonyms aliases
MIP2A, SEDL, SEDT, TRAPPC2P1, TRS20, ZNF547L, hYP38334
ChromosomeChromosome number
X
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp22.2
SummarySummary 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-
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 140
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    COPII-mediated vesicle transport
RAB GEFs exchange GTP for GDP on RABs
Associated diseases
Causal
Disease name Disease term 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, rs752248403, rs312262900, rs386833495, rs386833497, rs386833499, rs200963884, rs149551600, rs397515546, rs786204675, rs886039282, rs1057517523, rs1057517496, rs1057517462, rs1057517504, rs763198695, rs1057517483, rs1057517461, rs1057517524, rs1057517514, rs1057517526, rs1057517495, rs1057517532, rs1057517471, rs1057517502, rs1057517511, rs1057517482, rs1057517530, rs1057517474, rs762137330, rs1057517513, rs1014317450, rs1554095084, rs769859976, rs1554095145, rs1554095356, rs1554095374, rs1554095137, rs1554095156, rs745774620, rs1554095364, rs1481910744, rs1554095097, rs1554095125, rs1554095154, rs769657401, rs1554095381, rs1554095167, rs1554095266, rs1225601391, rs1554095296, rs1554095395, rs1235928535, rs1568554988, rs1561822760, rs1601054002, rs1601057167, rs1601054715, rs2055184939
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
Unknown
Disease name Disease term dbSNP ID References
Chondrodystrophic myotonia Schwartz-Jampel Syndrome, Type 1
Dyschondroplasias Dyschondroplasias
Osteoarthritis of hip Osteoarthritis of hip
Van buchem disease Van Buchem disease

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