Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51693
Gene name	Trafficking protein particle complex subunit 2L
Gene symbol	TRAPPC2L
Synonyms (NCBI Gene)	HSPC176PERRB
Chromosome	16
Chromosome location	16q24.3
Summary	This gene encodes a protein that interacts with the tethering factor trafficking protein particle (TRAPP complex). TRAPP complexes mediate the contact between vescicles and target membranes, and thus, are involved in vescicle-mediated transport of protein

Show/Hide all (34)

miRTarBase ID	miRNA	Experiments	Reference
MIRT648290	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT648289	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT648288	hsa-miR-4457	HITS-CLIP	23824327
MIRT648287	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT648286	hsa-miR-3183	HITS-CLIP	23824327
MIRT648285	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT648284	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT648283	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT648282	hsa-miR-1252-5p	HITS-CLIP	23824327
MIRT648281	hsa-miR-3148	HITS-CLIP	23824327
MIRT648280	hsa-miR-4533	HITS-CLIP	23824327
MIRT648279	hsa-miR-513b-5p	HITS-CLIP	23824327
MIRT648278	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT648277	hsa-miR-4279	HITS-CLIP	23824327
MIRT648290	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT648289	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT648288	hsa-miR-4457	HITS-CLIP	23824327
MIRT648287	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT648286	hsa-miR-3183	HITS-CLIP	23824327
MIRT648285	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT648284	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT648283	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT648282	hsa-miR-1252-5p	HITS-CLIP	23824327
MIRT648281	hsa-miR-3148	HITS-CLIP	23824327
MIRT648280	hsa-miR-4533	HITS-CLIP	23824327
MIRT648279	hsa-miR-513b-5p	HITS-CLIP	23824327
MIRT648278	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT648277	hsa-miR-4279	HITS-CLIP	23824327
MIRT1452039	hsa-miR-146b-3p	CLIP-seq
MIRT1452040	hsa-miR-22	CLIP-seq
MIRT1452041	hsa-miR-3173-5p	CLIP-seq
MIRT1452042	hsa-miR-4763-5p	CLIP-seq
MIRT1452043	hsa-miR-4766-5p	CLIP-seq
MIRT1452044	hsa-miR-874	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 21453443, 21525244, 21827752, 25416956, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	27066478
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IBA
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IEA
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	NAS	27066478
GO:0006901	Process	Vesicle coating	NAS	27066478
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0030008	Component	TRAPP complex	IBA
GO:0030008	Component	TRAPP complex	IDA	21525244
GO:0048208	Process	COPII vesicle coating	NAS	27066478
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0099022	Process	Vesicle tethering	NAS	27066478
GO:1990071	Component	TRAPPII protein complex	NAS	27066478
GO:1990072	Component	TRAPPIII protein complex	NAS	27066478

MIM	HGNC	e!Ensembl
610970	30887	ENSG00000167515

Q9UL33

Protein name

Trafficking protein particle complex subunit 2-like protein

Protein function

Plays a role in vesicular transport from endoplasmic reticulum to Golgi.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04628	Sedlin_N	7 → 138	Sedlin, N-terminal conserved region	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in testis, liver, bladder, lung, spleen and brain, several cell lines and primary chondrocytes cell line. {ECO:0000269|PubMed:19416478}.

Sequence

MAVCIAVIAKENYPLYIRSTPTENELKFHYMVHTSLDVVDEKISAMGKALVDQRELYLGL
LYPTEDYKVYGYVTNSKVKFVMVVDSSNTALRDNEIRSMFRKLHNSYTDVMCNPFYNPGD
RIQSSRAFDNMVTSMMIQVC

Sequence length

140

Interactions

View interactions

	Reactome
			COPII-mediated vesicle transport RAB GEFs exchange GTP for GDP on RABs

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Colon adenocarcinoma	Likely pathogenic	rs766956834	RCV005927096
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	Likely pathogenic; Pathogenic	rs766956834, rs2543679001, rs766510287, rs1597453026, rs1597455532	RCV003148328 RCV003391175 RCV000757972 RCV000989661 RCV000989662

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Likely benign	rs114835271	RCV005929442
Intellectual disability	Conflicting classifications of pathogenicity	rs751046231	RCV001267720
Nonpapillary renal cell carcinoma	Likely benign	rs114835271	RCV005929441
Sarcoma	Likely benign	rs114835271	RCV005929443
Thyroid cancer, nonmedullary, 1	Likely benign	rs114835271	RCV005929444
TRAPPC2L-related disorder	Uncertain significance; Likely benign; Benign	rs756746301, rs2543694245, rs114835271, rs3784874, rs1467887329, rs71395334, rs894376468, rs77686150, rs139655373, rs138888513, rs112109570, rs111674366, rs3784873, rs3826063	RCV003954058 RCV003414191 RCV003929077 RCV003974338 RCV003911959 RCV003973966 RCV003899450 RCV003952054 RCV003961748 RCV003927144 RCV003921963 RCV003964344 RCV003974783 RCV003981856

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Developmental Disabilities	Associate	32843486
Hypersensitivity Delayed	Associate	32843486
Intellectual Disability	Associate	32843486
Melanoma	Associate	31845298
Parkinson Disease	Associate	31845298
Post Infectious Disorders	Associate	32843486
Quadriplegia	Associate	32843486
Rhabdomyolysis	Associate	32843486
Wounds and Injuries	Associate	36266402

TRAPPC2L (trafficking protein particle complex subunit 2L)