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	51112
Gene name	Trafficking protein particle complex subunit 12
Gene symbol	TRAPPC12
Synonyms (NCBI Gene)	CGI-87PEBASTTC-15TTC15
Chromosome	2
Chromosome location	2p25.3

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs768950892	C>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1135401749	->C	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant, upstream transcript variant
rs1553309983	G>-	Likely-pathogenic	Upstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant

Show/Hide all (3)

miRTarBase ID	miRNA	Experiments	Reference
MIRT047738	hsa-miR-10a-5p	CLASH	23622248
MIRT037652	hsa-miR-744-5p	CLASH	23622248
MIRT035795	hsa-miR-1914-5p	CLASH	23622248

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000776	Component	Kinetochore	IDA	25918224
GO:0005515	Function	Protein binding	IPI	21525244, 25918224, 32296183
GO:0005634	Component	Nucleus	IDA	25918224
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	NAS	27066478
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IEA
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IMP	21525244
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA
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	IBA
GO:0030008	Component	TRAPP complex	IDA	21525244
GO:0048208	Process	COPII vesicle coating	NAS	27066478
GO:0048471	Component	Perinuclear region of cytoplasm	IMP	21525244
GO:0051310	Process	Metaphase chromosome alignment	IMP	25918224
GO:0090234	Process	Regulation of kinetochore assembly	IMP	25918224
GO:0099022	Process	Vesicle tethering	NAS	27066478
GO:1905342	Process	Positive regulation of protein localization to kinetochore	IMP	25918224
GO:1990072	Component	TRAPPIII protein complex	NAS	27066478

MIM	HGNC	e!Ensembl
614139	24284	ENSG00000171853

Q8WVT3

Protein name

Trafficking protein particle complex subunit 12 (Tetratricopeptide repeat protein 15) (TPR repeat protein 15) (TTC-15) (Trafficking of membranes and mitosis)

Protein function

Component of the TRAPP complex, which is involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage (PubMed:21525244, PubMed:28777934). Also plays a role in chromosome congression, kinetochore assembly and stability a

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14559	TPR_19	630 → 694		Domain

Sequence

MEDAGGGEETPAPEAPHPPQLAPPEEQGLLFQEETIDLGGDEFGSEENETASEGSSPLAD
KLNEHMMESVLISDSPNSEGDAGDLGRVRDEAEPGGEGDPGPEPAGTPSPSGEADGDCAP
EDAAPSSGGAPRQDAAREVPGSEAARPEQEPPVAEPVPVCTIFSQRAPPASGDGFEPQMV
KSPSFGGASEASARTPPQVVQPSPSLSTFFGDTAASHSLASDFFDSFTTSAFISVSNPGA
GSPAPASPPPLAVPGTEGRPEPVAMRGPQAAAPPASPEPFAHIQAVFAGSDDPFATALSM
SEMDRRNDAWLPGEATRGVLRAVATQQRGAVFVDKENLTMPGLRFDNIQGDAVKDLMLRF
LGEKAAAKRQVLNADSVEQSFVGLKQLISCRNWRAAVDLCGRLLTAHGQGYGKSGLLTSH
TTDSLQLWFVRLALLVKLGLFQNAEMEFEPFGNLDQPDLYYEYYPHVYPGRRGSMVPFSM
RILHAELQQYLGNPQESLDRLHKVKTVCSKILANLEQGLAEDGGMSSVTQEGRQASIRLW
RSRLGRVMYSMANCLLLMKDYVLAVEAYHSVIKYYPEQEPQLLSGIGRISLQIGDIKTAE
KYFQDVEKVTQKLDGLQGKIMVLMNSAFLHLGQNNFAEAHRFFTEILRMDPRNAVANNNA
AVCLLYLGKLKDSLRQLEAMVQQDPRHYLHESVLFNLTTMYELESSRSMQKKQALLEAVA
GKEGDSFNTQCLKLA

Sequence length

735

Interactions

View interactions

	Reactome
			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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	Likely pathogenic; Pathogenic	rs375354960, rs1553326322, rs772333765, rs757636155, rs2528802018, rs1200912683, rs755967000, rs2528226967, rs756361030, rs764323391, rs2528224626, rs1135401749, rs768950892, rs1553309983	RCV001330896 RCV002227924 RCV002291107 RCV003335883 RCV003340967 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer	Pathogenic	rs772333765	RCV005931693	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive childhood encephalopathy	Pathogenic; Likely pathogenic	rs1135401749, rs768950892	RCV000496091 RCV000496094	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe hydrocephalus	Likely pathogenic	rs371884821	RCV001328497	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRAPPC12-related disorder	Likely pathogenic; Pathogenic	rs779358370, rs1135401749	RCV003402925 RCV003900033	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

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.
CEREBRAL AMYLOID ANGIOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET PROGRESSIVE ENCEPHALOPATHY, HEARING LOSS, PONS HYPOPLASIA, BRAIN ATROPHY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (21)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	29458411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	28777934	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	GWASCAT_DG	29458411		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Encephalopathies	Epileptic encephalopathy	BEFREE	28777934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY	Encephalopathy	ORPHANET_DG	28777934		★★★★★ ★☆☆☆☆ Found in Text Mining only
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY	Encephalopathy	GENOMICS_ENGLAND_DG	28777934		★★★★★ ★☆☆☆☆ Found in Text Mining only
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY	Encephalopathy	UNIPROT_DG	28777934		★★★★★ ★☆☆☆☆ Found in Text Mining only
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY	Encephalopathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	28777934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	28777934	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

TRAPPC12 (trafficking protein particle complex subunit 12)