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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	27095
Gene name	Trafficking protein particle complex subunit 3
Gene symbol	TRAPPC3
Synonyms (NCBI Gene)	BET3
Chromosome	1
Chromosome location	1p34.3
Summary	This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. The encoded protein participates in the regulation of transport from the endoplasmic reticulum to the Golgi apparatus. A

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SNP ID	Visualize variation	Clinical significance	Consequence
rs751375244	G>A	Likely-pathogenic	Coding sequence variant, intron variant, missense variant

127

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miRTarBase ID	miRNA	Experiments	Reference
MIRT002767	hsa-miR-1-3p	Microarray	15685193
MIRT002767	hsa-miR-1-3p	Microarray;Other	15685193
MIRT030205	hsa-miR-26b-5p	Microarray	19088304
MIRT1452045	hsa-miR-1265	CLIP-seq
MIRT1452046	hsa-miR-1299	CLIP-seq
MIRT1452047	hsa-miR-2467-3p	CLIP-seq
MIRT1452048	hsa-miR-3140-5p	CLIP-seq
MIRT1452049	hsa-miR-3607-3p	CLIP-seq
MIRT1452050	hsa-miR-3616-3p	CLIP-seq
MIRT1452051	hsa-miR-3686	CLIP-seq
MIRT1452052	hsa-miR-370	CLIP-seq
MIRT1452053	hsa-miR-410	CLIP-seq
MIRT1452054	hsa-miR-4419a	CLIP-seq
MIRT1452055	hsa-miR-4436b-3p	CLIP-seq
MIRT1452056	hsa-miR-4510	CLIP-seq
MIRT1452057	hsa-miR-4643	CLIP-seq
MIRT1452058	hsa-miR-4694-3p	CLIP-seq
MIRT1452059	hsa-miR-4716-5p	CLIP-seq
MIRT1452060	hsa-miR-4717-3p	CLIP-seq
MIRT1452061	hsa-miR-4782-5p	CLIP-seq
MIRT1452062	hsa-miR-516b	CLIP-seq
MIRT1452063	hsa-miR-522	CLIP-seq
MIRT1452064	hsa-miR-583	CLIP-seq
MIRT1452065	hsa-miR-622	CLIP-seq
MIRT1452066	hsa-miR-767-3p	CLIP-seq
MIRT1452046	hsa-miR-1299	CLIP-seq
MIRT1452047	hsa-miR-2467-3p	CLIP-seq
MIRT1452050	hsa-miR-3616-3p	CLIP-seq
MIRT1452052	hsa-miR-370	CLIP-seq
MIRT1452054	hsa-miR-4419a	CLIP-seq
MIRT1452055	hsa-miR-4436b-3p	CLIP-seq
MIRT1452056	hsa-miR-4510	CLIP-seq
MIRT1452061	hsa-miR-4782-5p	CLIP-seq
MIRT1452062	hsa-miR-516b	CLIP-seq
MIRT2356412	hsa-miR-4749-3p	CLIP-seq
MIRT2649988	hsa-miR-1227	CLIP-seq
MIRT2649989	hsa-miR-1293	CLIP-seq
MIRT2649990	hsa-miR-129-3p	CLIP-seq
MIRT2649991	hsa-miR-1304	CLIP-seq
MIRT2649992	hsa-miR-1343	CLIP-seq
MIRT2649993	hsa-miR-135a	CLIP-seq
MIRT2649994	hsa-miR-135b	CLIP-seq
MIRT2649995	hsa-miR-1470	CLIP-seq
MIRT2649996	hsa-miR-1827	CLIP-seq
MIRT2649997	hsa-miR-1915	CLIP-seq
MIRT2649998	hsa-miR-3074-5p	CLIP-seq
MIRT2649999	hsa-miR-3119	CLIP-seq
MIRT2650000	hsa-miR-3124-3p	CLIP-seq
MIRT2650001	hsa-miR-3128	CLIP-seq
MIRT1452048	hsa-miR-3140-5p	CLIP-seq
MIRT2650002	hsa-miR-3160-5p	CLIP-seq
MIRT2650003	hsa-miR-3651	CLIP-seq
MIRT2650004	hsa-miR-3661	CLIP-seq
MIRT2650005	hsa-miR-3667-3p	CLIP-seq
MIRT2650006	hsa-miR-3908	CLIP-seq
MIRT2650007	hsa-miR-3942-5p	CLIP-seq
MIRT2650008	hsa-miR-4263	CLIP-seq
MIRT2650009	hsa-miR-4286	CLIP-seq
MIRT2650010	hsa-miR-4448	CLIP-seq
MIRT2650011	hsa-miR-4469	CLIP-seq
MIRT2650012	hsa-miR-4470	CLIP-seq
MIRT2650013	hsa-miR-4483	CLIP-seq
MIRT2650014	hsa-miR-4484	CLIP-seq
MIRT2650015	hsa-miR-4509	CLIP-seq
MIRT2650016	hsa-miR-455-5p	CLIP-seq
MIRT1452057	hsa-miR-4643	CLIP-seq
MIRT2650017	hsa-miR-4667-3p	CLIP-seq
MIRT2650018	hsa-miR-4691-5p	CLIP-seq
MIRT1452058	hsa-miR-4694-3p	CLIP-seq
MIRT2650019	hsa-miR-4703-5p	CLIP-seq
MIRT1452060	hsa-miR-4717-3p	CLIP-seq
MIRT2650020	hsa-miR-4744	CLIP-seq
MIRT2650021	hsa-miR-4766-3p	CLIP-seq
MIRT2650022	hsa-miR-4799-5p	CLIP-seq
MIRT1452063	hsa-miR-522	CLIP-seq
MIRT2650023	hsa-miR-548an	CLIP-seq
MIRT2650024	hsa-miR-576-3p	CLIP-seq
MIRT2650025	hsa-miR-576-5p	CLIP-seq
MIRT2650026	hsa-miR-592	CLIP-seq
MIRT2650027	hsa-miR-597	CLIP-seq
MIRT2650028	hsa-miR-621	CLIP-seq
MIRT1452065	hsa-miR-622	CLIP-seq
MIRT2650029	hsa-miR-631	CLIP-seq
MIRT1452066	hsa-miR-767-3p	CLIP-seq
MIRT2650030	hsa-miR-769-5p	CLIP-seq
MIRT2649989	hsa-miR-1293	CLIP-seq
MIRT2649990	hsa-miR-129-3p	CLIP-seq
MIRT2649991	hsa-miR-1304	CLIP-seq
MIRT2649992	hsa-miR-1343	CLIP-seq
MIRT2649993	hsa-miR-135a	CLIP-seq
MIRT2649994	hsa-miR-135b	CLIP-seq
MIRT2649995	hsa-miR-1470	CLIP-seq
MIRT2649996	hsa-miR-1827	CLIP-seq
MIRT2649998	hsa-miR-3074-5p	CLIP-seq
MIRT2649999	hsa-miR-3119	CLIP-seq
MIRT2650000	hsa-miR-3124-3p	CLIP-seq
MIRT2650001	hsa-miR-3128	CLIP-seq
MIRT2650002	hsa-miR-3160-5p	CLIP-seq
MIRT2650003	hsa-miR-3651	CLIP-seq
MIRT2650004	hsa-miR-3661	CLIP-seq
MIRT2650005	hsa-miR-3667-3p	CLIP-seq
MIRT2650006	hsa-miR-3908	CLIP-seq
MIRT2650007	hsa-miR-3942-5p	CLIP-seq
MIRT2650008	hsa-miR-4263	CLIP-seq
MIRT2650009	hsa-miR-4286	CLIP-seq
MIRT2694102	hsa-miR-4302	CLIP-seq
MIRT2650010	hsa-miR-4448	CLIP-seq
MIRT2650011	hsa-miR-4469	CLIP-seq
MIRT2650012	hsa-miR-4470	CLIP-seq
MIRT2650013	hsa-miR-4483	CLIP-seq
MIRT2650015	hsa-miR-4509	CLIP-seq
MIRT2650017	hsa-miR-4667-3p	CLIP-seq
MIRT2650018	hsa-miR-4691-5p	CLIP-seq
MIRT2694103	hsa-miR-4697-3p	CLIP-seq
MIRT2650019	hsa-miR-4703-5p	CLIP-seq
MIRT2650020	hsa-miR-4744	CLIP-seq
MIRT2650021	hsa-miR-4766-3p	CLIP-seq
MIRT2694104	hsa-miR-4786-5p	CLIP-seq
MIRT2650022	hsa-miR-4799-5p	CLIP-seq
MIRT2650025	hsa-miR-576-5p	CLIP-seq
MIRT2650026	hsa-miR-592	CLIP-seq
MIRT2650027	hsa-miR-597	CLIP-seq
MIRT2650028	hsa-miR-621	CLIP-seq
MIRT1452065	hsa-miR-622	CLIP-seq
MIRT2650029	hsa-miR-631	CLIP-seq
MIRT1452066	hsa-miR-767-3p	CLIP-seq
MIRT2650030	hsa-miR-769-5p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 16828797, 16908848, 18930054, 21453443, 21525244, 21827752, 25416956, 28514442, 31515488, 32296183, 33961781, 35271311
GO:0005737	Component	Cytoplasm	NAS	27066478
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
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:0006891	Process	Intra-Golgi vesicle-mediated transport	IBA
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:0030008	Component	TRAPP complex	IEA
GO:0033106	Component	Cis-Golgi network membrane	IBA
GO:0048193	Process	Golgi vesicle transport	IEA
GO:0048208	Process	COPII vesicle coating	NAS	27066478
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
610955	19942	ENSG00000054116

O43617

Protein name

Trafficking protein particle complex subunit 3 (BET3 homolog)

Protein function

May play a role in vesicular transport from endoplasmic reticulum to Golgi.

PDB

1SZ7 , 2C0J , 2CFH , 3KXC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04051	TRAPP	19 → 166	Transport protein particle (TRAPP) component	Family

Sequence

MSRQANRGTESKKMSSELFTLTYGALVTQLCKDYENDEDVNKQLDKMGFNIGVRLIEDFL
ARSNVGRCHDFRETADVIAKVAFKMYLGITPSITNWSPAGDEFSLILENNPLVDFVELPD
NHSSLIYSNLLCGVLRGALEMVQMAVEAKFVQDTLKGDGVTEIRMRFIRRIEDNLPAGEE

Sequence length

180

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bardet-Biedl syndrome	Likely pathogenic	rs751375244	RCV000256478	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

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.
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ciliopathies	Ciliopathy	Pubtator	27894351	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic Dysplasia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratosis Follicularis	Keratosis Follicularis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

TRAPPC3 (trafficking protein particle complex subunit 3)