Gene Gene information from NCBI Gene database.
Entrez ID 79090
Gene name Trafficking protein particle complex subunit 6A
Gene symbol TRAPPC6A
Synonyms (NCBI Gene)
TRS33
Chromosome 19
Chromosome location 19q13.32
Summary This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. Loss of expression of the related gene in mouse affects coat and eye pigmentation, suggesting that the encoded protein m
miRNA miRNA information provided by mirtarbase database.
72
miRTarBase ID miRNA Experiments Reference
MIRT030324 hsa-miR-26b-5p Microarray 19088304
MIRT617112 hsa-miR-8485 HITS-CLIP 23824327
MIRT617111 hsa-miR-4461 HITS-CLIP 23824327
MIRT617109 hsa-miR-3692-3p HITS-CLIP 23824327
MIRT617112 hsa-miR-8485 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 16828797, 18930054, 21273506, 23088713, 25416956, 31515488, 32296183
GO:0005737 Component Cytoplasm NAS 27066478
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005794 Component Golgi apparatus IEA
GO:0005801 Component Cis-Golgi network IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610396 23069 ENSG00000007255
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75865
Protein name Trafficking protein particle complex subunit 6A (TRAPP complex subunit 6A)
Protein function May play a role in vesicular transport during the biogenesis of melanosomes.
PDB 2C0J , 2J3T
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04051 TRAPP 7 157 Transport protein particle (TRAPP) component Family
Sequence
Sequence length 159
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    COPII-mediated vesicle transport
RAB GEFs exchange GTP for GDP on RABs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TRAPPC6A-related disorder Benign; Likely benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Congenital Abnormalities Congenital abnormalities Pubtator 29391579 Associate
★☆☆☆☆
Found in Text Mining only
Dysmorphic features Dysmorphic Features BEFREE 29391579
★☆☆☆☆
Found in Text Mining only
Dysmorphic features Dysmorphic Features GENOMICS_ENGLAND_DG 29391579
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation GENOMICS_ENGLAND_DG 29391579
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Intellectual developmental disorder Pubtator 29391579 Associate
★☆☆☆☆
Found in Text Mining only