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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	60684
Gene name Gene Name - the full gene name approved by the HGNC.	Trafficking protein particle complex subunit 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TRAPPC11
Synonyms (NCBI Gene) Gene synonyms aliases	C4orf41, FOIGR, GRY, LGMD2S, LGMDR18
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q35.1
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alte

Show/Hide all(27)

SNP ID	Visualize variation	Clinical significance	Consequence
rs140403642	C>T	Likely-pathogenic, pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs143990563	C>A,G	Likely-pathogenic, benign-likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs146441514	C>G	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs148833310	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs150331292	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs150593522	T>-,TT	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs151021715	A>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs200466260	C>G,T	Conflicting-interpretations-of-pathogenicity	Downstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs201868142	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs397509417	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs397509418	G>A	Pathogenic, pathogenic-likely-pathogenic	Intron variant
rs569565392	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs750976634	C>G,T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs758227044	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs769785004	TCAG>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs778742385	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs780139133	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs868721699	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs886041052	G>T	Pathogenic	Splice acceptor variant
rs886041053	A>G	Pathogenic	Intron variant
rs1180079162	G>A,C	Likely-pathogenic	Splice acceptor variant
rs1186858080	G>A,T	Likely-pathogenic	Splice donor variant
rs1483190866	C>T	Likely-pathogenic	5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant
rs1554008865	->A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554008866	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554009901	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1579207748	AT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT049471	hsa-miR-92a-3p	CLASH	23622248
MIRT037147	hsa-miR-877-3p	CLASH	23622248

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21525244
GO:0005737	Component	Cytoplasm	NAS	27066478
GO:0005794	Component	Golgi apparatus	IDA	27862579
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IMP	21525244
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	NAS	27066478
GO:0007030	Process	Golgi organization	IMP	21525244
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0030008	Component	TRAPP complex	IMP	21525244
GO:0045054	Process	Constitutive secretory pathway	IMP	19942856
GO:0048208	Process	COPII vesicle coating	NAS	27066478
GO:0061635	Process	Regulation of protein complex stability	IMP	21525244
GO:0099022	Process	Vesicle tethering	NAS	27066478
GO:1990072	Component	TRAPPIII protein complex	NAS	27066478

MIM	HGNC	e!Ensembl
614138	25751	ENSG00000168538

Protein

UniProt ID

Q7Z392

Protein name

Trafficking protein particle complex subunit 11

Protein function

Involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11817	Foie-gras_1	263 → 522	Foie gras liver health family 1	Family
PF12742	Gryzun-like	1036 → 1095	Gryzun, putative Golgi trafficking	Domain

Sequence

MSPTQWDFPVELCCRPMAFVTLTGLDVVYNAVHRAVWDAFCANRRADRVPISFKVLPGDH
EYPKCRPKRTSYEWYIPKGILKTGWMNKHLNLVPALVVVFYELDWDEPQWKEKQSECATR
VEIVRQSLQGRNTKVAVVLIQKKTPLPPGEDVIASERAAALCNACELSGKSLFVLPHTDH
LVGYIIRLENAFYEHAQTYYYTEIRRVKSHKEFLNKTTHQLLFVRHQFKIAFFSELKQDT
QNALKNYRTAYNLVHELRAHETNILEIKTMAGFINYKICRLCFQHNTPLDAIAQFRKHID
LCKKKIGSAELSFEHDAWMSKQFQAFGDLFDEAIKLGLTAIQTQNPGFYYQQAAYYAQER
KQLAKTLCNHEASVMYPNPDPLETQTGVLDFYGQRSWRQGILSFDLSDPEKEKVGILAIQ
LKERNVVHSEIIITLLSNAVAQFKKYKCPRMKSHLMVQMGEEYYYAKDYTKALKLLDYVM
CDYRSEGWWTLLTSVLTTALKCSYLMAQLKDYITYSLELLGRASTLKDDQKSRIEKNLIN
VLMNESPDPEPDCDILAVKTAQKLWADRISLAGSNIFTIGVQDFVPFVQCKAKFHAPSFH
VDVPVQFDIYLKADCPHPIRFSKLCVSFNNQEYNQFCVIEEASKANEVLENLTQGKMCLV
PGKTRKLLFKFVAKTEDVGKKIEITSVDLALGNETGRCVVLNWQGGGGDAASSQEALQAA
RSFKRRPKLPDNEVHWDSIIIQASTMIISRVPNISVHLLHEPPALTNEMYCLVVTVQSHE
KTQIRDVKLTAGLKPGQDANLTQKTHVTLHGTELCDESYPALLTDIPVGDLHPGEQLEKM
LYVRCGTVGSRMFLVYVSYLINTTVEEKEIVCKCHKDETVTIETVFPFDVAVKFVSTKFE
HLERVYADIPFLLMTDLLSASPWALTIVSSELQLAPSMTTVDQLESQVDNVILQTGESAS
ECFCLQCPSLGNIEGGVATGHYIISWKRTSAMENIPIITTVITLPHVIVENIPLHVNADL
PSFGRVRESLPVKYHLQNKTDLVQDVEISVEPSDAFMFSGLKQIRLRILPGTEQEMLYNF
YPLMAGYQQLPSLNINLLRFPNFTNQLLRRFIPTSIFVKPQGRLMDDTSIAAA

Sequence length

1133

Interactions

View interactions

	Reactome
			RAB GEFs exchange GTP for GDP on RABs

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy, Limb-girdle muscular dystrophy	rs1180079162, rs886041052, rs569565392, rs886041053, rs1483190866, rs150331292, rs750976634, rs769785004, rs1554009901, rs1186858080, rs397509417, rs140403642, rs397509418, rs1554007706	N/A
Muscular dystrophy	muscular dystrophy	rs397509417	N/A
Limb-Girdle Muscular Dystrophy	muscular dystrophy, limb-girdle, autosomal recessive 23	rs397509418	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Androgenetic Alopecia	Androgenetic alopecia	N/A	N/A	GWAS
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	intellectual disability-hyperkinetic movement-truncal ataxia syndrome	N/A	N/A	GenCC
Sarcoidosis	Sarcoidosis	N/A	N/A	GWAS
Systemic lupus erythematosus	Systemic lupus erythematosus	N/A	N/A	GWAS

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Ataxia	Associate	23830518
Cerebral Infarction	Associate	32912094
Cerebral Small Vessel Diseases	Associate	32912094
Developmental Disabilities	Associate	29391579
Diabetes Mellitus	Associate	37974208
Epilepsy	Associate	29855340
Fatty Liver	Associate	37974208
Fractures Spontaneous	Associate	31575891
Hyperkinesis	Associate	23830518
Infections	Associate	37197784
Intellectual Disability	Associate	23830518, 29391579, 37197784
Limb girdle muscular dystrophy type 2A	Associate	37974208
Movement Disorders	Associate	23830518, 37197784
Muscle Weakness	Associate	37197784, 37974208
Muscular Diseases	Associate	23830518, 29855340
Muscular Dystrophies	Associate	29855340
Muscular Dystrophies Limb Girdle	Associate	23830518, 29855340, 37197784
Musculoskeletal Abnormalities	Associate	29391579
Pathological Conditions Anatomical	Associate	37197784
Speech Disorders	Associate	29391579
Status Asthmaticus	Associate	37197784

TRAPPC11 (trafficking protein particle complex subunit 11)