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	60684
Gene name	Trafficking protein particle complex subunit 11
Gene symbol	TRAPPC11
Synonyms (NCBI Gene)	C4orf41FOIGRGRYLGMD2SLGMDR18
Chromosome	4
Chromosome location	4q35.1
Summary	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

Show/Hide all (2)

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

Show/Hide all (15)

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

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

856

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive limb-girdle muscular dystrophy	Pathogenic; Likely pathogenic	rs1414226750, rs1480951752, rs150331292	RCV005238115 RCV003226840 RCV003401410
Autosomal recessive limb-girdle muscular dystrophy type R18	Likely pathogenic; Pathogenic	rs771717941, rs1180079162, rs1736442342, rs1216637259, rs759415592, rs2111348918, rs2111068286, rs1735877322, rs2111067026, rs1414226750, rs1735328958, rs2111348673, rs2111363477, rs1400419850, rs2111068100 View all (32 more)	RCV001336555 RCV001336033 RCV001336034 RCV001785081 RCV001783900 RCV001783901 RCV001783903 RCV002037649 RCV001999917 RCV001953797 RCV001927055 RCV001942047 RCV001967137 RCV001972821 RCV001956478 RCV003056872 RCV003112145 RCV002730698 RCV002851950 RCV002902895 RCV002933253 RCV003019843 RCV003059680 RCV000258796 RCV000258806 RCV003581927 RCV003581282 RCV003581447 RCV003582954 RCV003741707 RCV003742175 RCV003742284 RCV003740837 RCV003855591 RCV000416446 RCV003741194 RCV001055785 RCV000539818 RCV000554957 RCV000651606 RCV000754740 RCV002533849 RCV001784373 RCV003768286 RCV000054408 RCV000054409 RCV001223573 RCV001233161
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs140403642	RCV005897022
Limb-girdle muscular dystrophy	Likely pathogenic; Pathogenic	rs771717941, rs140403642	RCV004017819 RCV000825637
Muscular dystrophy	Likely pathogenic; Pathogenic	rs397509417	RCV004798763
Muscular dystrophy, limb-girdle, autosomal recessive 23	Likely pathogenic; Pathogenic	rs397509418	RCV001254697
TRAPPC11-related disorder	Likely pathogenic	rs1561063218	RCV003420743

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Uncertain significance	rs62358033, rs113851701, rs373713956	RCV005922984 RCV005925307 RCV005897023
Cholangiocarcinoma	Benign	rs62358033, rs113851701	RCV005922988 RCV005925310
Familial cancer of breast	Benign; Likely benign	rs72691592, rs372102247	RCV005924954 RCV005907141
Gastric cancer	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs6842945, rs62358033, rs113851701, rs374203755, rs753626996, rs148833310	RCV005919865 RCV005922986 RCV005925309 RCV005920737 RCV005921324 RCV005901161
Lung cancer	Likely benign; Benign	rs73872659, rs73872656	RCV005919269 RCV005916969
Malignant lymphoma, large B-cell, diffuse	Benign	rs6842945	RCV005919864
Malignant tumor of esophagus	Benign	rs11938175, rs73872656, rs62358033	RCV005916584 RCV005916968 RCV005922985
Myopathy	Uncertain significance	rs1736339881	RCV001541907
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	rs62358033, rs141588557	RCV005922987 RCV005897024
Sarcoma	Likely benign; Benign	rs73872659, rs11938175, rs113851701	RCV005919268 RCV005916585 RCV005925308

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)