Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
122553
Gene name Gene Name - the full gene name approved by the HGNC.
Trafficking protein particle complex subunit 6B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TRAPPC6B
Synonyms (NCBI Gene) Gene synonyms aliases
NEDMEBA, TPC6
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NEDMEBA
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
TRAPPC6B is a component of TRAPP complexes, which are tethering complexes involved in vesicle transport (Kummel et al., 2005 [PubMed 16025134]).[supplied by OMIM, Mar 2008]
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs377626365 G>A Pathogenic Coding sequence variant, stop gained
rs1347223331 T>C Pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT718381 hsa-miR-8485 HITS-CLIP 19536157
MIRT718380 hsa-miR-208a-5p HITS-CLIP 19536157
MIRT718379 hsa-miR-208b-5p HITS-CLIP 19536157
MIRT718378 hsa-miR-377-3p HITS-CLIP 19536157
MIRT718377 hsa-miR-5096 HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005515 Function Protein binding IPI 16908848, 18930054
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005801 Component Cis-Golgi network IBA 21873635
GO:0005802 Component Trans-Golgi network IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610397 23066 ENSG00000182400
Protein
UniProt ID Q86SZ2
Protein name Trafficking protein particle complex subunit 6B (TRAPP complex subunit 6B)
Protein function Component of a transport protein particle (TRAPP) complex that may function in specific stages of inter-organelle traffic (PubMed:16025134, PubMed:16828797). Specifically involved in the early development of neural circuitry, likely by controlli
PDB 2BJN , 2CFH , 3KXC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04051 TRAPP 7 156 Transport protein particle (TRAPP) component Family
Tissue specificity TISSUE SPECIFICITY: Both isoforms are expressed ubiquitously (at transcript level), isoform 1 being the most predominant (PubMed:28626029). Expressed in the fetal brain and different regions of the adult brain and spinal cord (PubMed:28626029). {ECO:00002
Sequence
Sequence length 158
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mental retardation Severe intellectual disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Distal hereditary motor neuronopathy NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY rs104894345, rs104894351, rs137852970, rs137852972, rs267607143, rs267607145, rs28939680, rs29001571, rs28937568, rs28937569, rs104894020, rs121909112, rs121909113, rs121909342, rs786205090
View all (57 more)
1693664, 28397838
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896