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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Colon adenocarcinoma	Likely pathogenic	rs766956834	RCV005927096	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	Likely pathogenic; Pathogenic	rs766956834, rs2543679001, rs766510287, rs1597453026, rs1597455532	RCV003148328 RCV003391175 RCV000757972 RCV000989661 RCV000989662	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Adrenocortical carcinoma, hereditary	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MUCOPOLYSACCHARIDOSIS IV	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS, MPS-IV-A	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRAPPC2L-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32843486	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	32843486	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	32843486	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
melanoma	Melanoma	BEFREE	31845298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	31845298	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis, MPS-IV-A	Mucopolysaccharidosis	CLINVAR_DG	16287098, 24726177, 25252036, 9375852		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	31845298		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	31845298	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Quadriplegia	Quadriplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyolysis	Rhabdomyolysis	Pubtator	32843486	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

TRAPPC2L (trafficking protein particle complex subunit 2L)